{ "uniprot_canonical_ac": "O95319-1", "uniprot_ac": "O95319", "uniprot_id": "CELF2_HUMAN", "mass": { "chemical_mass": 54285.0, "monoisotopic_mass": 54285.0 }, "refseq": { "ac": "NP_001020247", "name": "CUGBP Elav-like family member 2 isoform 1", "summary": "Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247" }, "gene_names": [ { "name": "CELF2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95319", "id": "O95319" }, { "name": "BRUNOL3; CELF-2; CUG-BP2; CUGBP2; DEE97; ETR-3; ETR3; NAPOR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247", "id": "NP_001020247" }, { "name": "BRUNOL3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95319", "id": "O95319" }, { "name": "CELF2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247", "id": "NP_001020247" }, { "name": "CUGBP2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95319", "id": "O95319" }, { "name": "ETR3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95319", "id": "O95319" }, { "name": "NAPOR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95319", "id": "O95319" } ], "protein_names": [ { "name": "CUGBP Elav-like family member 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95319" }, { "name": "Bruno-like protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95319" }, { "name": "CELF-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95319" }, { "name": "CUG triplet repeat RNA-binding protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95319" }, { "name": "CUG-BP- and ETR-3-like factor 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95319" }, { "name": "CUG-BP2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95319" }, { "name": "CUGBP Elav-like family member 2 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247", "id": "NP_001020247" }, { "name": "ELAV-type RNA-binding protein 3; CUG-BP- and ETR-3-like factor 2; neuroblastoma apoptosis-related RNA-binding protein; bruno-like protein 3; RNA-binding protein BRUNOL-3; CUG triplet repeat RNA-binding protein 2; KDM2B/CELF2 fusion", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247", "id": "NP_001020247" }, { "name": "ELAV-type RNA-binding protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95319" }, { "name": "ETR-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95319" }, { "name": "Neuroblastoma apoptosis-related RNA-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95319" }, { "name": "RNA-binding protein BRUNOL-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95319" }, { "name": "hNAPOR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95319" } ], "function": [ { "annotation": "CircLIFR Inhibits Non-small Cell Lung Cancer Progression by Acting as a miR-429 Sponge to Enhance CELF2 Expression.", "evidence": [ { "database": "RefSeq", "id": "NP_001020247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247" }, { "database": "PubMed", "id": "36104590", "url": "https://glygen.org/publication/PubMed/36104590" } ] }, { "annotation": "Data demonstrate that cells expressing CUGBP2 variant 1 undergo apoptosis during mitosis, suggesting mitotic catastrophe.", "evidence": [ { "database": "RefSeq", "id": "NP_001020247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247" }, { "database": "PubMed", "id": "18258790", "url": "https://glygen.org/publication/PubMed/18258790" } ] }, { "annotation": "Hypoxia-induced lncRNA MRVI1-AS1 accelerates hepatocellular carcinoma progression by recruiting RNA-binding protein CELF2 to stabilize SKA1 mRNA. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001020247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247" }, { "database": "PubMed", "id": "36973749", "url": "https://glygen.org/publication/PubMed/36973749" } ] }, { "annotation": "Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001020247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247" } ] }, { "annotation": "Natural Antisense Long Noncoding RNA HHIP-AS1 Suppresses Non-Small-Cell Lung Cancer Progression by Increasing HHIP Stability via Interaction with CELF2.", "evidence": [ { "database": "RefSeq", "id": "NP_001020247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247" }, { "database": "PubMed", "id": "36374812", "url": "https://glygen.org/publication/PubMed/36374812" } ] }, { "annotation": "RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle. Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB. Acts both as an activator and as a repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Promotes inclusion of exonS 21 and exclusion of exon 5 of the NMDA receptor R1 pre-mRNA. Involved in the apoB RNA editing activity. Increases COX2 mRNA stability and inhibits COX2 mRNA translation in epithelial cells after radiation injury (By similarity). Modulates the cellular apoptosis program by regulating COX2-mediated prostaglandin E2 (PGE2) expression (By similarity). Binds to (CUG)n triplet repeats in the 3'-UTR of transcripts such as DMPK. Binds to the muscle-specific splicing enhancer (MSE) intronic sites flanking the TNNT2 alternative exon 5. Binds preferentially to UG-rich sequences, in particular UG repeat and UGUU motifs. Binds to apoB mRNA, specifically to AU-rich sequences located immediately upstream of the edited cytidine. Binds AU-rich sequences in the 3'-UTR of COX2 mRNA (By similarity). Binds to an intronic RNA element responsible for the silencing of exon 21 splicing (By similarity). Binds to (CUG)n repeats (By similarity). May be a specific regulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF1, negatively regulates the processing to mature miRNA (PubMed:28431233).", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319#function" }, { "database": "PubMed", "id": "12649496", "url": "https://glygen.org/publication/PubMed/12649496" }, { "database": "PubMed", "id": "14973222", "url": "https://glygen.org/publication/PubMed/14973222" }, { "database": "UniProtKB", "id": "Q9Z0H4", "url": "https://www.uniprot.org/uniprot/Q9Z0H4#function" }, { "database": "PubMed", "id": "28431233", "url": "https://glygen.org/publication/PubMed/28431233" }, { "database": "PubMed", "id": "15894795", "url": "https://glygen.org/publication/PubMed/15894795" }, { "database": "PubMed", "id": "11931771", "url": "https://glygen.org/publication/PubMed/11931771" }, { "database": "PubMed", "id": "11577082", "url": "https://glygen.org/publication/PubMed/11577082" }, { "database": "PubMed", "id": "15657417", "url": "https://glygen.org/publication/PubMed/15657417" }, { "database": "PubMed", "id": "11158314", "url": "https://glygen.org/publication/PubMed/11158314" } ] }, { "annotation": "Role of CELF2 in ferroptosis: Potential targets for cancer therapy (Review). Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001020247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247" }, { "database": "PubMed", "id": "37594127", "url": "https://glygen.org/publication/PubMed/37594127" } ] } ], "disease": [ { "disease_id": "DOID:0070383", "recommended_name": { "id": "DOID:0070383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070383", "name": "developmental and epileptic encephalopathy 97", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14." }, "synonyms": [ { "id": "DOID:0070383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070383", "name": "DEE97", "description": "" }, { "id": "DOID:0070383", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070383", "name": "early infantile epileptic encephalopathy 97", "description": "" }, { "id": "MONDO:0030453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030453", "name": "developmental and epileptic encephalopathy 97", "description": "" }, { "id": "MONDO:0030453", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030453", "name": "DEE97", "description": "" }, { "id": "MIM:619561", "resource": "MIM", "url": "https://www.omim.org/entry/619561", "name": "Developmental and epileptic encephalopathy 97", "description": "Developmental and epileptic encephalopathy 97" } ], "evidence": [ { "id": "619561", "database": "MIM", "url": "https://www.omim.org/entry/619561" } ] } ], "snv": [ { "evidence": [ { "id": "rs71491569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs71491569" }, { "id": "rs71491569", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs71491569" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 264, "end_pos": 264, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLG->NLS).", "chr_id": "10", "chr_pos": "11275090", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G264", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778728931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778728931" }, { "id": "rs778728931", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778728931" }, { "id": "rs778728931", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778728931" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 284, "end_pos": 284, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "10", "chr_pos": "11288447", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A284", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199984870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199984870" }, { "id": "rs199984870", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199984870" }, { "id": "rs199984870", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199984870#frequency_tab" }, { "id": "rs199984870", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199984870" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 306, "end_pos": 306, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STT->NTT).", "chr_id": "10", "chr_pos": "11288493", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S306", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs922460916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs922460916" }, { "id": "rs922460916", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs922460916#frequency_tab" }, { "id": "rs922460916", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs922460916" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 74, "end_pos": 74, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DRS->NRS).", "chr_id": "10", "chr_pos": "11165652", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D74", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000048740", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000048740" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000048740", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000048740" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000048740", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000048740" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "96.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000048740", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000048740" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000048740", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000048740" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000048740", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000048740" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "94.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000048740", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000048740" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000048740", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000048740" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "81.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000048740", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000048740" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "97.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000048740", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000048740" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "82.11", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000048740", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000048740" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "79.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000048740", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000048740" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000048740", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000048740" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95319", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95319" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95319", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95319" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "common_name": "Human" } ], "gene": [ { "name": "CELF2", "url": "https://www.uniprot.org/uniprot/O95319", "locus": { "chromosome": "10", "start_pos": 11336675, "end_pos": 10798397, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000048740", "url": "https://www.ensembl.org/id/ENSG00000048740" } ] } } ], "crossref": [ { "id": "ENSG00000048740", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000048740", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd12631", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd12631", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd12634", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd12634", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd12638", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd12638", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CELF2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10659", "url": "https://www.ncbi.nlm.nih.gov/gene/10659", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2550", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2550", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95319", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95319*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000504", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000504", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002343", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002343", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012677", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012677", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR034196", "url": "https://www.ebi.ac.uk/interpro/entry/IPR034196", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR034198", "url": "https://www.ebi.ac.uk/interpro/entry/IPR034198", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR034199", "url": "https://www.ebi.ac.uk/interpro/entry/IPR034199", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035979", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035979", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "602538", "url": "http://www.omim.org/entry/602538", "database": "MIM", "categories": [ "Other" ] }, { "id": "619561", "url": "http://www.omim.org/entry/619561", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95319", "url": "https://www.nextprot.org/entry/NX_O95319", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95319", "url": "https://oglcnac.org/atlas/detail/O95319", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O95319", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95319", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "QWHKPRK", "url": "https://omabrowser.org/oma/group/QWHKPRK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "406581at2759", "url": "http://www.orthodb.org/?query=406581at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24012", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24012", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24012:SF699", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24012:SF699", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2MY7", "url": "https://www.rcsb.org/structure/2MY7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2MY8", "url": "https://www.rcsb.org/structure/2MY8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4LJM", "url": "https://www.rcsb.org/structure/4LJM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4LMZ", "url": "https://www.rcsb.org/structure/4LMZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TLQ", "url": "https://www.rcsb.org/structure/4TLQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5M8I", "url": "https://www.rcsb.org/structure/5M8I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00076", "url": "http://pfam.xfam.org/family/PF00076", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95319", "url": "https://pharos.nih.gov/targets/O95319", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95319", "url": "http://purl.obolibrary.org/obo/PR_O95319", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001020247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0J9YX66", "url": "https://www.uniprot.org/uniprot/A0A0J9YX66", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YX66-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YX66-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YXJ0", "url": "https://www.uniprot.org/uniprot/A0A0J9YXJ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YXJ0-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YXJ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YXK1", "url": "https://www.uniprot.org/uniprot/A0A0J9YXK1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YXK1-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YXK1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GU44", "url": "https://www.uniprot.org/uniprot/A0A1B0GU44", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GU44-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GU44-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GUN8", "url": "https://www.uniprot.org/uniprot/A0A1B0GUN8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GUN8-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GUN8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PC62", "url": "https://www.uniprot.org/uniprot/E9PC62", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PC62-1", "url": "https://www.uniprot.org/uniprot/E9PC62-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95319-1", "url": "https://www.uniprot.org/uniprot/O95319-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95319-2", "url": "https://www.uniprot.org/uniprot/O95319-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95319-3", "url": "https://www.uniprot.org/uniprot/O95319-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95319-4", "url": "https://www.uniprot.org/uniprot/O95319-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95319-5", "url": "https://www.uniprot.org/uniprot/O95319-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5VZZ6", "url": "https://www.uniprot.org/uniprot/Q5VZZ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5VZZ6-1", "url": "https://www.uniprot.org/uniprot/Q5VZZ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GY47", "url": "https://www.uniprot.org/uniprot/V9GY47", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GY47-1", "url": "https://www.uniprot.org/uniprot/V9GY47-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYD9", "url": "https://www.uniprot.org/uniprot/V9GYD9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "V9GYD9-1", "url": "https://www.uniprot.org/uniprot/V9GYD9-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRCPKSAVTMRNEELLLSNGTANKMNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRVMFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQLAQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATSTNANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAGMAALNGGLGATGLTNGTAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGPEGANLFIYHLPQEFGDQDILQMFMPFGNVISAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY", "length": 508, "header": "sp|O95319-1|CELF2_HUMAN Isoform 1 of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=1 CANONICAL=O95319-1" }, "isoforms": [ { "isoform_ac": "A0A0J9YX66-1", "url": "", "sequence": { "sequence": "MRCPKSAVTMRNEELLLSNGTANKMNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRVMFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQLAQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATSTNANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAVAQMLSGMAALNGGLGATGLTNGTAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGPEGANLFIYHLPQEFGDQDILQMFMPFGNVISAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY", "length": 514, "header": "tr|A0A0J9YX66-1|CELF2_HUMAN Computationally mapped isoform of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=1 CANONICAL=O95319-1" }, "locus": { "chromosome": "10", "start_pos": 11329050, "end_pos": 11005388, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000631816.1", "url": "https://www.ensembl.org/id/ENST00000631816.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488268.1", "url": "https://www.ensembl.org/id/ENSP00000488268.1" } ] } }, { "isoform_ac": "A0A0J9YXJ0-1", "url": "", "sequence": { "sequence": "MTSAFKLDFLPDMMVEGRLLVPDRINGTANKMNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRVMFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQLAQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATSTNANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAGTINTPRSKRLLLPKDNNGMAALNGGLGATGLTNGTAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGPEGANLFIYHLPQEFGDQDILQMFMPFGNVISAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY", "length": 533, "header": "tr|A0A0J9YXJ0-1|CELF2_HUMAN Computationally mapped isoform of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=1 CANONICAL=O95319-1" }, "locus": { "chromosome": "10", "start_pos": 11329050, "end_pos": 11018090, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000632065.1", "url": "https://www.ensembl.org/id/ENST00000632065.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488422.1", "url": "https://www.ensembl.org/id/ENSP00000488422.1" } ] } }, { "isoform_ac": "A0A0J9YXK1-1", "url": "", "sequence": { "sequence": "MRCPKSAVTMRNEELLLSNGTANKMNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKDASSHSDETCR", "length": 94, "header": "tr|A0A0J9YXK1-1|CELF2_HUMAN Computationally mapped isoform of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=1 CANONICAL=O95319-1" }, "locus": { "chromosome": "10", "start_pos": 11249184, "end_pos": 11005388, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000633200.1", "url": "https://www.ensembl.org/id/ENST00000633200.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488438.1", "url": "https://www.ensembl.org/id/ENSP00000488438.1" } ] } }, { "isoform_ac": "A0A1B0GU44-1", "url": "", "sequence": { "sequence": "MVSLVSDLDPLKNWKVLRETATELAGSLPSNGTANKMNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRVMFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQLAQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATSTNANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAGMAALNGGLGATGLTNGTAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGPEGANLFIYHLPQEFGDQDILQMFMPFGNVISAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY", "length": 520, "header": "tr|A0A1B0GU44-1|A0A1B0GU44_HUMAN Computationally mapped isoform of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=1 CANONICAL=O95319-1" }, "locus": { "chromosome": "10", "start_pos": 11329050, "end_pos": 10798765, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636488.1", "url": "https://www.ensembl.org/id/ENST00000636488.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489955.1", "url": "https://www.ensembl.org/id/ENSP00000489955.1" } ] } }, { "isoform_ac": "A0A1B0GUN8-1", "url": "", "sequence": { "sequence": "MVSLVSDLDPLKNWKVLRETATELAGSLPSNGTANKMNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRVMFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQLAQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATSTNANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAVAQMLSGMAALNGGLGATGLTNGTAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGPEGANLFIYHLPQEFGDQDILQMFMPFGNVISAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY", "length": 526, "header": "tr|A0A1B0GUN8-1|CELF2_HUMAN Computationally mapped isoform of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=1 CANONICAL=O95319-1" }, "locus": { "chromosome": "10", "start_pos": 11329050, "end_pos": 10798765, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637215.1", "url": "https://www.ensembl.org/id/ENST00000637215.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490185.1", "url": "https://www.ensembl.org/id/ENSP00000490185.1" } ] } }, { "isoform_ac": "E9PC62-1", "url": "", "sequence": { "sequence": "MTSAFKLDFLPDMMVEGRLLVPDRINGTANKMNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRVMFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQLAQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATSTNANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAVAQMLSGMAALNGGLGATGLTNGTAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGPEGANLFIYHLPQEFGDQDILQMFMPFGNVISAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY", "length": 521, "header": "tr|E9PC62-1|CELF2_HUMAN Computationally mapped isoform of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=1 CANONICAL=O95319-1" }, "locus": { "chromosome": "10", "start_pos": 11329050, "end_pos": 11018090, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542579.5", "url": "https://www.ensembl.org/id/ENST00000542579.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000443926.1", "url": "https://www.ensembl.org/id/ENSP00000443926.1" } ] } }, { "isoform_ac": "O95319-1", "url": "", "sequence": { "sequence": "MRCPKSAVTMRNEELLLSNGTANKMNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRVMFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQLAQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATSTNANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAGMAALNGGLGATGLTNGTAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGPEGANLFIYHLPQEFGDQDILQMFMPFGNVISAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY", "length": 508, "header": "sp|O95319-1|CELF2_HUMAN Isoform 1 of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=1 CANONICAL=O95319-1" }, "locus": { "chromosome": "10", "start_pos": 11329050, "end_pos": 11005388, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416382.6", "url": "https://www.ensembl.org/id/ENST00000416382.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000406451.2", "url": "https://www.ensembl.org/id/ENSP00000406451.2" } ] } }, { "isoform_ac": "O95319-2", "url": "", "sequence": { "sequence": "MNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRVMFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQLAQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATSTNANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAVAQMLSGMAALNGGLGATGLTNGTAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGPEGANLFIYHLPQEFGDQDILQMFMPFGNVISAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY", "length": 490, "header": "sp|O95319-2|CELF2_HUMAN Isoform 2 of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=1 CANONICAL=O95319-1" }, "locus": { "chromosome": "10", "start_pos": 11329050, "end_pos": 11165505, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638035.1", "url": "https://www.ensembl.org/id/ENST00000638035.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490401.1", "url": "https://www.ensembl.org/id/ENSP00000490401.1" } ] } }, { "isoform_ac": "O95319-3", "url": "", "sequence": { "sequence": "MMVEGRLLVPDRINGTANKMNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRVMFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQLAQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATSTNANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAGTINTPRSKRLLLPKDNNGMAALNGGLGATGLTNGTAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGPEGANLFIYHLPQEFGDQDILQMFMPFGNVISAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY", "length": 521, "header": "sp|O95319-3|CELF2_HUMAN Isoform 3 of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=1 CANONICAL=O95319-1" }, "locus": {} }, { "isoform_ac": "O95319-4", "url": "", "sequence": { "sequence": "MMVEGRLLVPDRINGTANKMNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRVMFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQLAQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATSTNANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAVAQMLSGMAALNGGLGATGLTNGTAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGPEGANLFIYHLPQEFGDQDILQMFMPFGNVISAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY", "length": 509, "header": "sp|O95319-4|CELF2_HUMAN Isoform 4 of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=1 CANONICAL=O95319-1" }, "locus": {} }, { "isoform_ac": "O95319-5", "url": "", "sequence": { "sequence": "MNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRVMFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQLAQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATSTNANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAGTINSMAALNGGLGATGLTNGTAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGPEGANLFIYHLPQEFGDQDILQMFMPFGNVISAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY", "length": 488, "header": "sp|O95319-5|CELF2_HUMAN Isoform 5 of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=1 CANONICAL=O95319-1" }, "locus": { "chromosome": "10", "start_pos": 11329050, "end_pos": 11165505, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000608830.5", "url": "https://www.ensembl.org/id/ENST00000608830.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000476999.1", "url": "https://www.ensembl.org/id/ENSP00000476999.1" } ] } }, { "isoform_ac": "Q5VZZ6-1", "url": "", "sequence": { "sequence": "MNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRVMFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQLAQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATSTNANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAGTINTPRSKRLLLPKDNNGMAALNGGLGATGLTNGTAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGPEGANLFIYHLPQEFGDQDILQMFMPFGNVISAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY", "length": 502, "header": "tr|Q5VZZ6-1|CELF2_HUMAN Computationally mapped isoform of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=2 CANONICAL=O95319-1" }, "locus": { "chromosome": "10", "start_pos": 11329050, "end_pos": 11165505, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354897.3", "url": "https://www.ensembl.org/id/ENST00000354897.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000346971.3", "url": "https://www.ensembl.org/id/ENSP00000346971.3" } ] } }, { "isoform_ac": "V9GY47-1", "url": "", "sequence": { "sequence": "MNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKDASSHSDETCR", "length": 70, "header": "tr|V9GY47-1|CELF2_HUMAN Computationally mapped isoform of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=1 CANONICAL=O95319-1" }, "locus": { "chromosome": "10", "start_pos": 11249184, "end_pos": 11165505, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000609870.5", "url": "https://www.ensembl.org/id/ENST00000609870.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000476392.1", "url": "https://www.ensembl.org/id/ENSP00000476392.1" } ] } }, { "isoform_ac": "V9GYD9-1", "url": "", "sequence": { "sequence": "MNGALDHSDQPDPDAIKMFVGQIPRSWSEKELKELFEPYGAVYQINVLRDRSQNPPQSKGCCFVTFYTRKAALEAQNALHNIKTLPGMHHPIQMKPADSEKSNAVEDRKLFIGMVSKKCNENDIRVMFSPFGQIEECRILRGPDGLSRGCAFVTFSTRAMAQNAIKAMHQSQTMEGCSSPIVVKFADTQKDKEQRRLQQQLAQQMQQLNTATWGNLTGLGGLTPQYLALLQQATSSSNLGAFSGIQQMAGMNALQLQNLATLAAAAAAAQTSATSTNANPLSTTSSALGALTSPVAASTPNSTAGAAMNSLTSLGTLQGLAGATVGLNNINALAGTINSMAALNGGLGATGLTNGTAGTMDALTQAYSGIQQYAAAALPTLYSQSLLQQQSAAGSQKEGFVSYDNPVSAQAAIQAMNGFQIGMKRLKVQLKRSKNDSKPY", "length": 440, "header": "tr|V9GYD9-1|V9GYD9_HUMAN Computationally mapped isoform of CUGBP Elav-like family member 2 OS=Homo sapiens OX=9606 GN=CELF2 PE=1 SV=1 CANONICAL=O95319-1" }, "locus": { "chromosome": "10", "start_pos": 11329050, "end_pos": 11165505, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000609692.5", "url": "https://www.ensembl.org/id/ENST00000609692.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000476656.1", "url": "https://www.ensembl.org/id/ENSP00000476656.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 295, "start_aa": "Thr", "end_pos": 295, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr295", "evidence": [ { "id": "O95319", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95319" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O95319", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95319" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 296, "start_aa": "Ser", "end_pos": 296, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser296", "evidence": [ { "id": "O95319", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95319" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O95319", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95319" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 296, "start_aa": "Ser", "end_pos": 296, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser296", "evidence": [ { "id": "GLY_000142", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000142" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 298, "start_aa": "Thr", "end_pos": 298, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr298", "evidence": [ { "id": "O95319", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95319" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O95319", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95319" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Developmentally-regulated expression of mNapor encoding an apoptosis-induced ELAV-type RNA binding protein.", "journal": "Gene", "date": "1999", "authors": "Choi DK, Ito T, Tsukahara F, Hirai M, Sakaki Y", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "reference": [ { "type": "PubMed", "id": "10524244", "url": "https://glygen.org/publication/PubMed/10524244" } ] }, { "title": "A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Good P J, Chen Q, Warner S J, Herring D C", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "reference": [ { "type": "PubMed", "id": "10893231", "url": "https://glygen.org/publication/PubMed/10893231" } ] }, { "title": "The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing.", "journal": "Molecular and cellular biology", "date": "2001-02", "authors": "Ladd A N, Charlet N, Cooper T A", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "reference": [ { "type": "PubMed", "id": "11158314", "url": "https://glygen.org/publication/PubMed/11158314" } ] }, { "title": "Genomic organization and isoform-specific tissue expression of human NAPOR (CUGBP2) as a candidate gene for familial arrhythmogenic right ventricular dysplasia.", "journal": "Genomics", "date": "2001", "authors": "Li D, Bachinski LL, Roberts R", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "reference": [ { "type": "PubMed", "id": "11414768", "url": "https://glygen.org/publication/PubMed/11414768" } ] }, { "title": "Novel role for RNA-binding protein CUGBP2 in mammalian RNA editing. CUGBP2 modulates C to U editing of apolipoprotein B mRNA by interacting with apobec-1 and ACF, the apobec-1 complementation factor.", "journal": "The Journal of biological chemistry", "date": "2001-12-14", "authors": "Anant S, Henderson J O, Mukhopadhyay D, Navaratnam N, Kennedy S, Min J, Davidson N O", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "reference": [ { "type": "PubMed", "id": "11577082", "url": "https://glygen.org/publication/PubMed/11577082" } ] }, { "title": "Dynamic antagonism between ETR-3 and PTB regulates cell type-specific alternative splicing.", "journal": "Molecular cell", "date": "2002-03", "authors": "Charlet-B Nicolas, Logan Penny, Singh Gopal, Cooper Thomas A", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "reference": [ { "type": "PubMed", "id": "11931771", "url": "https://glygen.org/publication/PubMed/11931771" } ] }, { "title": "Antagonistic regulation of alpha-actinin alternative splicing by CELF proteins and polypyrimidine tract binding protein.", "journal": "RNA (New York, N.Y.)", "date": "2003-04", "authors": "Gromak Natalia, Matlin Arianne J, Cooper Thomas A, Smith Christopher W J", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "reference": [ { "type": "PubMed", "id": "12649496", "url": "https://glygen.org/publication/PubMed/12649496" } ] }, { "title": "ETR-3 and CELF4 protein domains required for RNA binding and splicing activity in vivo.", "journal": "Nucleic acids research", "date": "2004", "authors": "Singh G, Charlet-B N, Han J, Cooper TA", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "reference": [ { "type": "PubMed", "id": "14973222", "url": "https://glygen.org/publication/PubMed/14973222" } ] }, { "title": "Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment.", "journal": "Molecular and cellular biology", "date": "2005-02", "authors": "Faustino Nuno Andr\u00e9, Cooper Thomas A", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "reference": [ { "type": "PubMed", "id": "15657417", "url": "https://glygen.org/publication/PubMed/15657417" } ] }, { "title": "Identification of CELF splicing activation and repression domains in vivo.", "journal": "Nucleic acids research", "date": "2005", "authors": "Han Jin, Cooper Thomas A", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "reference": [ { "type": "PubMed", "id": "15894795", "url": "https://glygen.org/publication/PubMed/15894795" } ] }, { "title": "ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I.", "journal": "J. Neurosci. Res.", "date": "2006", "authors": "Leroy Olivier, Dhaenens Claire-Marie, Schraen-Maschke Suzanna, Belarbi Karim, Delacourte Andr\u00e9, Andreadis Athena, Sablonni\u00e8re Bernard, Bu\u00e9e Luc, Sergeant Nicolas, Caillet-Boudin Marie-Laure", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "reference": [ { "type": "PubMed", "id": "16862542", "url": "https://glygen.org/publication/PubMed/16862542" } ] }, { "title": "Novel intestinal splice variants of RNA-binding protein CUGBP2: isoform-specific effects on mitotic catastrophe.", "journal": "American journal of physiology. Gastrointestinal and liver physiology", "date": "2008", "authors": "Ramalingam S, Natarajan G, Schafer C, Subramaniam D, May R, Ramachandran I, Queimado L, Houchen CW, Anant S", "evidence": [ { "database": "RefSeq", "id": "NP_001020247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247" } ], "reference": [ { "type": "PubMed", "id": "18258790", "url": "https://glygen.org/publication/PubMed/18258790" } ] }, { "title": "A Compendium of RNA-Binding Proteins that Regulate MicroRNA Biogenesis.", "journal": "Molecular cell", "date": "2017", "authors": "Treiber T, Treiber N, Plessmann U, Harlander S, Daiss JL, Eichner N, Lehmann G, Schall K, Urlaub H, Meister G", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "reference": [ { "type": "PubMed", "id": "28431233", "url": "https://glygen.org/publication/PubMed/28431233" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95319", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95319" }, { "database": "O-GlcNAc Atlas", "id": "O95319", "url": "https://oglcnac.org/atlas/detail/O95319" }, { "database": "GlyGen", "id": "GLY_000142", "url": "https://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95319", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95319" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.", "journal": "Human mutation", "date": "2021", "authors": "Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brosse I, Ries M, Kobayashi Y, Tohyama J, Kato M, Ong WP, Chew HB, Rethanavelu K, Ranza E, Blanc X, Uchiyama Y, Tsuchida N, Fujita A, Azuma Y, Koshimizu E, Mizuguchi T, Takata A, Miyake N, Takahashi H, Miyagi E, Tsurusaki Y, Doi H, Taguri M, Antonarakis SE, Nakashima M, Saitsu H, Miyatake S, Matsumoto N", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "reference": [ { "type": "PubMed", "id": "33131106", "url": "https://glygen.org/publication/PubMed/33131106" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95319", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95319" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "CircLIFR Inhibits Non-small Cell Lung Cancer Progression by Acting as a miR-429 Sponge to Enhance CELF2 Expression.", "journal": "Biochemical genetics", "date": "2022-09-14", "authors": "Wang Junbin, Lai Xinyi, Peng Xuxing", "evidence": [ { "database": "RefSeq", "id": "NP_001020247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247" } ], "reference": [ { "type": "PubMed", "id": "36104590", "url": "https://glygen.org/publication/PubMed/36104590" } ] }, { "title": "Natural Antisense Long Noncoding RNA HHIP-AS1 Suppresses Non-Small-Cell Lung Cancer Progression by Increasing HHIP Stability via Interaction with CELF2.", "journal": "Critical reviews in eukaryotic gene expression", "date": "2022", "authors": "Yang Yan, Cheng Yue, Mou Yanfei, Tang Xianjun, Mu Xiaosong", "evidence": [ { "database": "RefSeq", "id": "NP_001020247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247" } ], "reference": [ { "type": "PubMed", "id": "36374812", "url": "https://glygen.org/publication/PubMed/36374812" } ] }, { "title": "Hypoxia-induced lncRNA MRVI1-AS1 accelerates hepatocellular carcinoma progression by recruiting RNA-binding protein CELF2 to stabilize SKA1 mRNA.", "journal": "World journal of surgical oncology", "date": "2023-03-28", "authors": "Tuo Hang, Liu Runkun, Wang Yufeng, Yang Wei, Liu Qingguang", "evidence": [ { "database": "RefSeq", "id": "NP_001020247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247" } ], "reference": [ { "type": "PubMed", "id": "36973749", "url": "https://glygen.org/publication/PubMed/36973749" } ] }, { "title": "Role of CELF2 in ferroptosis: Potential targets for cancer therapy (Review).", "journal": "International journal of molecular medicine", "date": "2023-10", "authors": "Li Jiahao, Xian Lei, Zhu Zifeng, Wang Yang, Zhang Wenlei, Zheng Ruipeng, Xue Wang, Li Jiarui", "evidence": [ { "database": "RefSeq", "id": "NP_001020247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020247" } ], "reference": [ { "type": "PubMed", "id": "37594127", "url": "https://glygen.org/publication/PubMed/37594127" } ] }, { "title": "Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy.", "journal": "Nucleic Acids Res.", "date": "1996", "authors": "Timchenko LT, Miller JW, Timchenko NA, DeVore DR, Datar KV, Lin L, Roberts R, Caskey CT, Swanson MS", "evidence": [ { "database": "UniProtKB", "id": "O95319", "url": "https://www.uniprot.org/uniprot/O95319" } ], "reference": [ { "type": "PubMed", "id": "8948631", "url": "https://glygen.org/publication/PubMed/8948631" } ] }, { 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