{ "uniprot_canonical_ac": "O95996-1", "uniprot_ac": "O95996", "uniprot_id": "APCL_HUMAN", "mass": { "chemical_mass": 243949.0, "monoisotopic_mass": 243949.0 }, "refseq": { "ac": "NP_005874", "name": "adenomatous polyposis coli protein 2 isoform 1", "summary": "This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phosphorylates the Wnt effector beta-catenin and targets beta-catenin for ubiquitylation and proteasomal degradation. This protein therefore plays a role in the reduction of cytoplasmic levels of beta-catenin which in turn reduces activation of Wnt target genes that play a pivotal role in the pathogenesis of various human cancers. The protein encoded by this gene is closely related to the adenomatous polyposis coli (APC) tumor-suppressor protein and has similar tumor-suppressor effects. This gene also plays a role in actin assembly, cell-cell adhesion, and microtubule network formation through its interaction with cytoskeletal proteins. This gene has its highest expression in the central nervous system and is involved in brain development through cytoskeletal regulation in neurons. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874" }, "gene_names": [ { "name": "APC2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95996", "id": "O95996" }, { "name": "APC2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874", "id": "NP_005874" }, { "name": "APCL; MRT74", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874", "id": "NP_005874" }, { "name": "APCL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95996", "id": "O95996" } ], "protein_names": [ { "name": "Adenomatous polyposis coli protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95996" }, { "name": "APC-like", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95996" }, { "name": "Adenomatous polyposis coli protein-like", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95996" }, { "name": "adenomatous polyposis coli like; adenomatous polyposis coli protein 2; APC2, WNT signaling pathway regulator; adenomatosis polyposis coli 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874", "id": "NP_005874" }, { "name": "adenomatous polyposis coli protein 2 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874", "id": "NP_005874" } ], "function": [ { "annotation": "High miR-3648 expression and low APC2 expression are associated with shorter survival and tumor progression in NSCLC.", "evidence": [ { "database": "RefSeq", "id": "NP_005874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874" }, { "database": "PubMed", "id": "34927228", "url": "https://glygen.org/publication/PubMed/34927228" } ] }, { "annotation": "METTL3 promotes tumour development by decreasing APC expression mediated by APC mRNA N(6)-methyladenosine-dependent YTHDF binding. Erratum:[Nat Commun. 2021 Jul 20;12(1):4529. PMID: 34285242] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874" }, { "database": "PubMed", "id": "34155197", "url": "https://glygen.org/publication/PubMed/34155197" } ] }, { "annotation": "Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.", "evidence": [ { "database": "RefSeq", "id": "NP_005874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874" }, { "database": "PubMed", "id": "37657306", "url": "https://glygen.org/publication/PubMed/37657306" } ] }, { "annotation": "Stabilizes microtubules and may regulate actin fiber dynamics through the activation of Rho family GTPases (PubMed:25753423). May also function in Wnt signaling by promoting the rapid degradation of CTNNB1 (PubMed:10021369, PubMed:11691822, PubMed:9823329).", "evidence": [ { "database": "UniProtKB", "id": "O95996", "url": "https://www.uniprot.org/uniprot/O95996#function" }, { "database": "PubMed", "id": "9823329", "url": "https://glygen.org/publication/PubMed/9823329" }, { "database": "PubMed", "id": "11691822", "url": "https://glygen.org/publication/PubMed/11691822" }, { "database": "PubMed", "id": "10021369", "url": "https://glygen.org/publication/PubMed/10021369" }, { "database": "PubMed", "id": "25753423", "url": "https://glygen.org/publication/PubMed/25753423" } ] }, { "annotation": "This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phosphorylates the Wnt effector beta-catenin and targets beta-catenin for ubiquitylation and proteasomal degradation. This protein therefore plays a role in the reduction of cytoplasmic levels of beta-catenin which in turn reduces activation of Wnt target genes that play a pivotal role in the pathogenesis of various human cancers. The protein encoded by this gene is closely related to the adenomatous polyposis coli (APC) tumor-suppressor protein and has similar tumor-suppressor effects. This gene also plays a role in actin assembly, cell-cell adhesion, and microtubule network formation through its interaction with cytoskeletal proteins. This gene has its highest expression in the central nervous system and is involved in brain development through cytoskeletal regulation in neurons. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_005874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874" } ] }, { "annotation": "What are the roles of global DNA and APC 2 gene promotor hypermethylation in multiple myeloma?", "evidence": [ { "database": "RefSeq", "id": "NP_005874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874" }, { "database": "PubMed", "id": "34637096", "url": "https://glygen.org/publication/PubMed/34637096" } ] } ], "disease": [ { "disease_id": "DOID:0081218", "recommended_name": { "id": "DOID:0081218", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081218", "name": "autosomal recessive intellectual developmental disorder 74", "description": "An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported." }, "synonyms": [ { "id": "MONDO:0014951", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014951", "name": "intellectual developmental disorder, autosomal recessive 74", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene." }, { "id": "MONDO:0014951", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014951", "name": "APC2 Sotos syndrome", "description": "" }, { "id": "MONDO:0014951", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014951", "name": "SOTOS3", "description": "" }, { "id": "MONDO:0014951", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014951", "name": "Sotos syndrome 3", "description": "" }, { "id": "MONDO:0014951", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014951", "name": "Sotos syndrome caused by mutation in APC2", "description": "" }, { "id": "MONDO:0014951", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014951", "name": "Sotos syndrome type 3", "description": "" }, { "id": "MONDO:0014951", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014951", "name": "intellectual developmental disorder, autosomal recessive 74", "description": "" }, { "id": "MIM:617169", "resource": "MIM", "url": "https://www.omim.org/entry/617169", "name": "Intellectual developmental disorder, autosomal recessive 74", "description": "Intellectual developmental disorder, autosomal recessive 74" } ], "evidence": [ { "id": "617169", "database": "MIM", "url": "https://www.omim.org/entry/617169" } ] }, { "disease_id": "MONDO:0032866", "recommended_name": { "id": "MONDO:0032866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032866", "name": "cortical dysplasia, complex, with other brain malformations 10", "description": "" }, "synonyms": [ { "id": "MONDO:0032866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032866", "name": "CDCBM10", "description": "" }, { "id": "MONDO:0032866", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032866", "name": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10", "description": "" }, { "id": "MIM:618677", "resource": "MIM", "url": "https://www.omim.org/entry/618677", "name": "Cortical dysplasia, complex, with other brain malformations 10", "description": "Cortical dysplasia, complex, with other brain malformations 10" } ], "evidence": [ { "id": "618677", "database": "MIM", "url": "https://www.omim.org/entry/618677" } ] } ], "snv": [ { "evidence": [ { "id": "O95996", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95996" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1035, "end_pos": 1035, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HLS->NLS).", "chr_id": "19", "chr_pos": "1466404", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H1035", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1315182003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315182003" }, { "id": "rs1315182003", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1315182003#frequency_tab" }, { "id": "rs1315182003", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1315182003" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1091, "end_pos": 1091, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "19", "chr_pos": "1466572", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1091", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95996", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95996" }, { "id": "rs1338821004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1338821004" }, { "id": "rs1338821004", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1338821004#frequency_tab" }, { "id": "rs1338821004", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1338821004" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1146, "end_pos": 1146, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "19", "chr_pos": "1466738", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1146", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1240868761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1240868761" }, { "id": "rs1240868761", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1240868761" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1209, "end_pos": 1209, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "19", "chr_pos": "1466927", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1461369269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1461369269" }, { "id": "rs1461369269", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1461369269#frequency_tab" }, { "id": "rs1461369269", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1461369269" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1211, "end_pos": 1211, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SKT->NKT).", "chr_id": "19", "chr_pos": "1466933", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs113816766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113816766" }, { "id": "rs113816766", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs113816766" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1277, "end_pos": 1277, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "19", "chr_pos": "1467131", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1277", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs977847550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs977847550" }, { "id": "rs977847550", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs977847550#frequency_tab" }, { "id": "rs977847550", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs977847550" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1455, "end_pos": 1455, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "19", "chr_pos": "1467665", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1455", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759422783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759422783" }, { "id": "rs759422783", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759422783" }, { "id": "rs759422783", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759422783" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 145, "end_pos": 145, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEI->NET).", "chr_id": "19", "chr_pos": "1455169", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I145", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757934822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757934822" }, { "id": "rs757934822", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757934822" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1463, "end_pos": 1463, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRA->NRS).", "chr_id": "19", "chr_pos": "1467688", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1463", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372563885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372563885" }, { "id": "rs372563885", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372563885" }, { "id": "rs372563885", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372563885#frequency_tab" }, { "id": "rs372563885", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372563885" } ], "glycoeffect": [ 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"database": "BioXpress", "id": "O95996", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95996" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"categories": [ "Protein" ] } ], "sequence": { "sequence": "MASSVAPYEQLVRQVEALKAENSHLRQELRDNSSHLSKLETETSGMKEVLKHLQGKLEQEARVLVSSGQTEVLEQLKALQMDITSLYNLKFQPPTLGPEPAARTPEGSPVHGSGPSKDSFGELSRATIRLLEELDRERCFLLNEIEKEEKEKLWYYSQLQGLSKRLDELPHVETQFSMQMDLIRQQLEFEAQHIRSLMEERFGTSDEMVQRAQIRASRLEQIDKELLEAQDRVQQTEPQALLAVKSVPVDEDPETEVPTHPEDGTPQPGNSKVEVVFWLLSMLATRDQEDTARTLLAMSSSPESCVAMRRSGCLPLLLQILHGTEAAAGGRAGAPGAPGAKDARMRANAALHNIVFSQPDQGLARKEMRVLHVLEQIRAYCETCWDWLQARDGGPEGGGAGSAPIPIEPQICQATCAVMKLSFDEEYRRAMNELGGLQAVAELLQVDYEMHKMTRDPLNLALRRYAGMTLTNLTFGDVANKATLCARRGCMEAIVAQLASDSEELHQVVSSILRNLSWRADINSKKVLREAGSVTALVQCVLRATKESTLKSVLSALWNLSAHSTENKAAICQVDGALGFLVSTLTYKCQSNSLAIIESGGGILRNVSSLVATREDYRQVLRDHNCLQTLLQHLTSHSLTIVSNACGTLWNLSARSARDQELLWDLGAVGMLRNLVHSKHKMIAMGSAAALRNLLAHRPAKHQAAATAVSPGSCVPSLYVRKQRALEAELDARHLAQALEHLEKQGPPAAEAATKKPLPPLRHLDGLAQDYASDSGCFDDDDAPSSLAAAAATGEPASPAALSLFLGSPFLQGQALARTPPTRRGGKEAEKDTSGEAAVAAKAKAKLALAVARIDQLVEDISALHTSSDDSFSLSSGDPGQEAPREGRAQSCSPCRGPEGGRREAGSRAHPLLRLKAAHASLSNDSLNSGSASDGYCPREHMLPCPLAALASRREDPRCGQPRPSRLDLDLPGCQAEPPAREATSADARVRTIKLSPTYQHVPLLEGASRAGAEPLAGPGISPGARKQAWLPADHLSKVPEKLAAAPLSVASKALQKLAAQEGPLSLSRCSSLSSLSSAGRPGPSEGGDLDDSDSSLEGLEEAGPSEAELDSTWRAPGATSLPVAIPAPRRNRGRGLGVEDATPSSSSENYVQETPLVLSRCSSVSSLGSFESPSIASSIPSEPCSGQGSGTISPSELPDSPGQTMPPSRSKTPPLAPAPQGPPEATQFSLQWESYVKRFLDIADCRERCRLPSELDAGSVRFTVEKPDENFSCASSLSALALHEHYVQQDVELRLLPSACPERGGGAGGAGLHFAGHRRREEGPAPTGSRPRGAADQELELLRECLGAAVPARLRKVASALVPGRRALPVPVYMLVPAPAPAQEDDSCTDSAEGTPVNFSSAASLSDETLQGPPRDQPGGPAGRQRPTGRPTSARQAMGHRHKAGGAGRSAEQSRGAGKNRAGLELPLGRPPSAPADKDGSKPGRTRGDGALQSLCLTTPTEEAVYCFYGNDSDEEPPAAAPTPTHRRTSAIPRAFTRERPQGRKEAPAPSKAAPAAPPPARTQPSLIADETPPCYSLSSSASSLSEPEPSEPPAVHPRGREPAVTKDPGPGGGRDSSPSPRAAEELLQRCISSALPRRRPPVSGLRRRKPRATRLDERPAEGSRERGEEAAGSDRASDLDSVEWRAIQEGANSIVTWLHQAAAATREASSESDSILSFVSGLSVGSTLQPPKHRKGRQAEGEMGSARRPEKRGAASVKTSGSPRSPAGPEKPRGTQKTTPGVPAVLRGRTVIYVPSPAPRAQPKGTPGPRATPRKVAPPCLAQPAAPAKVPSPGQQRSRSLHRPAKTSELATLSQPPRSATPPARLAKTPSSSSSQTSPASQPLPRKRPPVTQAAGALPGPGASPVPKTPARTLLAKQHKTQRSPVRIPFMQRPARRGPPPLARAVPEPGPRGRAGTEAGPGARGGRLGLVRVASALSSGSESSDRSGFRRQLTFIKESPGLRRRRSELSSAESAASAPQGASPRRGRPALPAVFLCSSRCEELRAAPRQGPAPARQRPPAARPSPGERPARRTTSESPSRLPVRAPAARPETVKRYASLPHISVARRPDGAVPAAPASADAARRSSDGEPRPLPRVAAPGTTWRRIRDEDVPHILRSTLPATALPLRGSTPEDAPAGPPPRKTSDAVVQTEEVAAPKTNSSTSPSLETREPPGAPAGGQLSLLGSDVDGPSLAKAPISAPFVHEGLGVAVGGFPASRHGSPSRSARVPPFNYVPSPMVVAATTDSAAEKAPATASATLLE", "length": 2303, "header": "sp|O95996-1|APCL_HUMAN Isoform 1 of Adenomatous polyposis coli protein 2 OS=Homo sapiens OX=9606 GN=APC2 PE=1 SV=1 CANONICAL=O95996-1" }, "isoforms": [ { "isoform_ac": "A0A0C4DGQ0-1", "url": "", "sequence": { "sequence": "MASSVAPYEQLVRQVEALKAENSHLRQELRDNSSHLSKLETETSGMKEVLKHLQGKLEQEARVLVSSGQTEVLEQLKALQMDITSLYNLKFQPPTLGPEPAARTPEGSPVHGSGPSKDSFGELSRATIRLLEELDRERCFLLNEIEKEEKEKLWYYSQLQGLSKRLDELPHVETQFSMQMDLIRQQLEFEAQHIRSLMEERFGTSDEMVQRAQIRASRLEQIDKELLEAQDRVQQTEPQALLAVKSVPVDEDPETEVPTHPEDGTPQPGNSKVEVVFWLLSMLATRDQEDTARTLLAMSSSPESCVAMRRSGCLPLLLQILHGTEAAAGGRAGAPGAPGAKDARMRANAALHNIVFSQPDQGLARKEMRVLHVLEQIRAYCETCWDWLQARDGGPEGGGAGSAPIPIEPQICQATCAVMKLSFDEEYRRAMNELGGLQAVAELLQVDYEMHKMTRDPLNLALRRYAGMTLTNLTFGDVANKATLCARRGCMEAIVAQLASDSEELHQVVSSILRNLSWRADINSKKVLREAGSVTALVQCVLRATKESTLKSVLSALWNLSAHSTENKAAICQVDGALGFLVSTLTYKCQSNSLAIIESGGGILRNVSSLVATREDYRQVLRDHNCLQTLLQHLTSHSLTIVSNACGTLWNLSARSARDQELLWDLGAVGMLRNLVHSKHKMIAMGSAAALRNLLAHRPAKH", "length": 702, "header": "tr|A0A0C4DGQ0-1|APCL_HUMAN Computationally mapped isoform of Adenomatous polyposis coli protein 2 OS=Homo sapiens OX=9606 GN=APC2 PE=1 SV=1 CANONICAL=O95996-1" }, "locus": { "chromosome": "19", "start_pos": 1470210, "end_pos": 1453002, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590469", "url": "https://www.ensembl.org/id/ENST00000590469" }, { "database": "Ensembl Peptide", "id": "ENSP00000467073", "url": "https://www.ensembl.org/id/ENSP00000467073" } ] } }, { "isoform_ac": "B5MDS5-1", "url": "", "sequence": { "sequence": "MASSVAPYEQLVRQVEALKAENSHLRQELRDNSSHLSKLETETSGMKEVLKHLQGKLEQEARVLVSSGQTEVLEQLKALQMDITSLYNLKFQPPTLGPEPAARTPEGSPVHGSGPSKDSFGELSRATIRLLEELDRERCFLLNEIEKEEKEKLWYYSQLQGLSKRLDELPHVETFSMQMDLIRQQLEFEAQHIRSLMEERFGTSDEMVQRAQIRASRLEQIDKELLEAQDRVQQTEPQALLAVKSVPVDEDPETEVPTHPEDGTPQPGNSKVEVVFWLLSMLATRDQEDTARTLLAMSSSPESCVAMRRSGCLPLLLQILHGTEAAAGGRAGAPGAPGAKDARMRANAALHNIVFSQPDQGLARKEMRVLHVLEQIRAYCETCWDWLQARDGGPEGGGAGSAPIPIEPQICQATCAVMKLSFDEEYRRAMNELGGLQAVAELLQVDYEMHKMTRDPLNLALRRYAGMTLTNLTFGDVANKATLCARRGCMEAIVAQLASDSEELHQVVSSILRNLSWRADINSKKVLREAGSVTALVQCVLRATKESTLKSVLSALWNLSAHSTENKAAICQVDGALGFLVSTLTYKCQSNSLAIIESGGGILRNVSSLVATREDYRQVLRDHNCLQTLLQHLTSHSLTIVSNACGTLWNLSARSARDQELLWDLGAVGMLRNLVHSKHKMIAMGSAAALRNLLAHRPAKHQAAATAVSPGSCVPSLYVRKQRALEAELD", "length": 730, "header": "tr|B5MDS5-1|APCL_HUMAN Computationally mapped isoform of Adenomatous polyposis coli protein 2 OS=Homo sapiens OX=9606 GN=APC2 PE=1 SV=8 CANONICAL=O95996-1" }, "locus": { "chromosome": "19", "start_pos": 1465494, "end_pos": 1453002, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000238483.5", "url": "https://www.ensembl.org/id/ENST00000238483.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000238483.5", "url": "https://www.ensembl.org/id/ENSP00000238483.5" } ] } }, { "isoform_ac": "K7ELQ3-1", "url": "", "sequence": { "sequence": "MASSVAPYEQLVRQVEALKAENSHLRQELRDNSSHLSKLETETSGMKEVLKHLQGKLEQEARVLVSSGQTEVLEQLKALQMDITSLYNLKFQPPTLGPEPAARTPEGSPVHGSGPSKDSFGELSRATIRLLEELDRERCFLLNEIEKEEKEKLWYYSQLQGLSKRLDELPHVETFSMQMDLIRQQLEFEAQHI", "length": 193, "header": "tr|K7ELQ3-1|APCL_HUMAN Computationally mapped isoform of Adenomatous polyposis coli protein 2 OS=Homo sapiens OX=9606 GN=APC2 PE=1 SV=7 CANONICAL=O95996-1" }, "locus": { "chromosome": "19", "start_pos": 1455443, "end_pos": 1453002, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590877.5", "url": "https://www.ensembl.org/id/ENST00000590877.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466173.2", "url": "https://www.ensembl.org/id/ENSP00000466173.2" } ] } }, { "isoform_ac": "K7EN62-1", "url": "", "sequence": { "sequence": "MASSVAPYEQLVRQVEALKAENSHLRQELRDNSSHLSKLETETSGMKEVLKHLQGKLEQEARVLVSSGQTEVLEQLKALQMDITSLYNLKFQPPTLGPEPAARTPEGSPVHGSGPSKDSFGELSRATIRLLEELDRERCFLLNEIEKEEKEKLWYYSQLQGLSKRLDELP", "length": 170, "header": "tr|K7EN62-1|APCL_HUMAN Computationally mapped isoform of Adenomatous polyposis coli protein 2 OS=Homo sapiens OX=9606 GN=APC2 PE=1 SV=2 CANONICAL=O95996-1" }, "locus": { "chromosome": "19", "start_pos": 1455245, "end_pos": 1453002, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587869.5", "url": "https://www.ensembl.org/id/ENST00000587869.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466803.2", "url": "https://www.ensembl.org/id/ENSP00000466803.2" } ] } }, { "isoform_ac": "K7ERC5-1", "url": "", "sequence": { "sequence": "MASSVAPYEQLVRQVEALKAENSHLRQELRDNSSHLSKLETETSGMKEVLKHLQGKLEQEARVLVSSGQTEVLEQLKALQMDITSLYNLKFQPPTLGPEPAARTPEGSPVHGSGPSKDSFGELSRATIRLLEELDRE", "length": 137, "header": "tr|K7ERC5-1|APCL_HUMAN Computationally mapped isoform of Adenomatous polyposis coli protein 2 OS=Homo sapiens OX=9606 GN=APC2 PE=1 SV=2 CANONICAL=O95996-1" }, "locus": { "chromosome": "19", "start_pos": 1453609, "end_pos": 1453002, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587149.6", "url": "https://www.ensembl.org/id/ENST00000587149.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000468199.2", "url": "https://www.ensembl.org/id/ENSP00000468199.2" } ] } }, { "isoform_ac": "O95996-1", "url": "", "sequence": { "sequence": "MASSVAPYEQLVRQVEALKAENSHLRQELRDNSSHLSKLETETSGMKEVLKHLQGKLEQEARVLVSSGQTEVLEQLKALQMDITSLYNLKFQPPTLGPEPAARTPEGSPVHGSGPSKDSFGELSRATIRLLEELDRERCFLLNEIEKEEKEKLWYYSQLQGLSKRLDELPHVETQFSMQMDLIRQQLEFEAQHIRSLMEERFGTSDEMVQRAQIRASRLEQIDKELLEAQDRVQQTEPQALLAVKSVPVDEDPETEVPTHPEDGTPQPGNSKVEVVFWLLSMLATRDQEDTARTLLAMSSSPESCVAMRRSGCLPLLLQILHGTEAAAGGRAGAPGAPGAKDARMRANAALHNIVFSQPDQGLARKEMRVLHVLEQIRAYCETCWDWLQARDGGPEGGGAGSAPIPIEPQICQATCAVMKLSFDEEYRRAMNELGGLQAVAELLQVDYEMHKMTRDPLNLALRRYAGMTLTNLTFGDVANKATLCARRGCMEAIVAQLASDSEELHQVVSSILRNLSWRADINSKKVLREAGSVTALVQCVLRATKESTLKSVLSALWNLSAHSTENKAAICQVDGALGFLVSTLTYKCQSNSLAIIESGGGILRNVSSLVATREDYRQVLRDHNCLQTLLQHLTSHSLTIVSNACGTLWNLSARSARDQELLWDLGAVGMLRNLVHSKHKMIAMGSAAALRNLLAHRPAKHQAAATAVSPGSCVPSLYVRKQRALEAELDARHLAQALEHLEKQGPPAAEAATKKPLPPLRHLDGLAQDYASDSGCFDDDDAPSSLAAAAATGEPASPAALSLFLGSPFLQGQALARTPPTRRGGKEAEKDTSGEAAVAAKAKAKLALAVARIDQLVEDISALHTSSDDSFSLSSGDPGQEAPREGRAQSCSPCRGPEGGRREAGSRAHPLLRLKAAHASLSNDSLNSGSASDGYCPREHMLPCPLAALASRREDPRCGQPRPSRLDLDLPGCQAEPPAREATSADARVRTIKLSPTYQHVPLLEGASRAGAEPLAGPGISPGARKQAWLPADHLSKVPEKLAAAPLSVASKALQKLAAQEGPLSLSRCSSLSSLSSAGRPGPSEGGDLDDSDSSLEGLEEAGPSEAELDSTWRAPGATSLPVAIPAPRRNRGRGLGVEDATPSSSSENYVQETPLVLSRCSSVSSLGSFESPSIASSIPSEPCSGQGSGTISPSELPDSPGQTMPPSRSKTPPLAPAPQGPPEATQFSLQWESYVKRFLDIADCRERCRLPSELDAGSVRFTVEKPDENFSCASSLSALALHEHYVQQDVELRLLPSACPERGGGAGGAGLHFAGHRRREEGPAPTGSRPRGAADQELELLRECLGAAVPARLRKVASALVPGRRALPVPVYMLVPAPAPAQEDDSCTDSAEGTPVNFSSAASLSDETLQGPPRDQPGGPAGRQRPTGRPTSARQAMGHRHKAGGAGRSAEQSRGAGKNRAGLELPLGRPPSAPADKDGSKPGRTRGDGALQSLCLTTPTEEAVYCFYGNDSDEEPPAAAPTPTHRRTSAIPRAFTRERPQGRKEAPAPSKAAPAAPPPARTQPSLIADETPPCYSLSSSASSLSEPEPSEPPAVHPRGREPAVTKDPGPGGGRDSSPSPRAAEELLQRCISSALPRRRPPVSGLRRRKPRATRLDERPAEGSRERGEEAAGSDRASDLDSVEWRAIQEGANSIVTWLHQAAAATREASSESDSILSFVSGLSVGSTLQPPKHRKGRQAEGEMGSARRPEKRGAASVKTSGSPRSPAGPEKPRGTQKTTPGVPAVLRGRTVIYVPSPAPRAQPKGTPGPRATPRKVAPPCLAQPAAPAKVPSPGQQRSRSLHRPAKTSELATLSQPPRSATPPARLAKTPSSSSSQTSPASQPLPRKRPPVTQAAGALPGPGASPVPKTPARTLLAKQHKTQRSPVRIPFMQRPARRGPPPLARAVPEPGPRGRAGTEAGPGARGGRLGLVRVASALSSGSESSDRSGFRRQLTFIKESPGLRRRRSELSSAESAASAPQGASPRRGRPALPAVFLCSSRCEELRAAPRQGPAPARQRPPAARPSPGERPARRTTSESPSRLPVRAPAARPETVKRYASLPHISVARRPDGAVPAAPASADAARRSSDGEPRPLPRVAAPGTTWRRIRDEDVPHILRSTLPATALPLRGSTPEDAPAGPPPRKTSDAVVQTEEVAAPKTNSSTSPSLETREPPGAPAGGQLSLLGSDVDGPSLAKAPISAPFVHEGLGVAVGGFPASRHGSPSRSARVPPFNYVPSPMVVAATTDSAAEKAPATASATLLE", "length": 2303, "header": "sp|O95996-1|APCL_HUMAN Isoform 1 of Adenomatous polyposis coli protein 2 OS=Homo sapiens OX=9606 GN=APC2 PE=1 SV=1 CANONICAL=O95996-1" }, "locus": { "chromosome": "19", "start_pos": 1470210, "end_pos": 1453002, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000233607.6", "url": "https://www.ensembl.org/id/ENST00000233607.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000233607.2", "url": "https://www.ensembl.org/id/ENSP00000233607.2" } ] } }, { "isoform_ac": "O95996-2", "url": "", "sequence": { "sequence": "MASSVAPYEQLVRQVEALKAENSHLRQELRDNSSHLSKLETETSGMKEVLKHLQGKLEQEARVLVSSGQTEVLEQLKALQMDITSLYNLKFQPPTLGPEPAARTPEGSPVHGSGPSKDSFGELSRATIRLLEELDRERCFLLNEIEKEEKEKLWYYSQLQGLSKRLDELLQVDYEMHKMTRDPLNLALRRYAGMTLTNLTFGDVANKATLCARRGCMEAIVAQLASDSEELHQVVSSILRNLSWRADINSKKVLREAGSVTALVQCVLRATKESTLKSVLSALWNLSAHSTENKAAICQVDGALGFLVSTLTYKCQSNSLAIIESGGGILRNVSSLVATREDYRQVLRDHNCLQTLLQHLTSHSLTIVSNACGTLWNLSARSARDQELLWDLGAVGMLRNLVHSKHKMIAMGSAAALRNLLAHRPAKHQAAATAVSPGSCVPSLYVRKQRALEAELDARHLAQALEHLEKQGPPAAEAATKKPLPPLRHLDGLAQDYASDSGCFDDDDAPSSLAAAAATGEPASPAALSLFLGSPFLQGQALARTPPTRRGGKEAEKDTSGEAAVAAKAKAKLALAVARIDQLVEDISALHTSSDDSFSLSSGDPGQEAPREGRAQSCSPCRGPEGGRREAGSRAHPLLRLKAAHASLSNDSLNSGSASDGYCPREHMLPCPLAALASRREDPRCGQPRPSRLDLDLPGCQAEPPAREATSADARVRTIKLSPTYQHVPLLEGASRAGAEPLAGPGISPGARKQAWLPADHLSKVPEKLAAAPLSVASKALQKLAAQEGPLSLSRCSSLSSLSSAGRPGPSEGGDLDDSDSSLEGLEEAGPSEAELDSTWRAPGATSLPVAIPAPRRNRGRGLGVEDATPSSSSENYVQETPLVLSRCSSVSSLGSFESPSIASSIPSEPCSGQGSGTISPSELPDSPGQTMPPSRSKTPPLAPAPQGPPEATQFSLQWESYVKRFLDIADCRERCRLPSELDAGSVRFTVEKPDENFSCASSLSALALHEHYVQQDVELRLLPSACPERGGGAGGAGLHFAGHRRREEGPAPTGSRPRGAADQELELLRECLGAAVPARLRKVASALVPGRRALPVPVYMLVPAPAPAQEDDSCTDSAEGTPVNFSSAASLSDETLQGPPRDQPGGPAGRQRPTGRPTSARQAMGHRHKAGGAGRSAEQSRGAGKNRAGLELPLGRPPSAPADKDGSKPGRTRGDGALQSLCLTTPTEEAVYCFYGNDSDEEPPAAAPTPTHRRTSAIPRAFTRERPQGRKEAPAPSKAAPAAPPPARTQPSLIADETPPCYSLSSSASSLSEPEPSEPPAVHPRGREPAVTKDPGPGGGRDSSPSPRAAEELLQRCISSALPRRRPPVSGLRRRKPRATRLDERPAEGSRERGEEAAGSDRASDLDSVEWRAIQEGANSIVTWLHQAAAATREASSESDSILSFVSGLSVGSTLQPPKHRKGRQAEGEMGSARRPEKRGAASVKTSGSPRSPAGPEKPRGTQKTTPGVPAVLRGRTVIYVPSPAPRAQPKGTPGPRATPRKVAPPCLAQPAAPAKVPSPGQQRSRSLHRPAKTSELATLSQPPRSATPPARLAKTPSSSSSQTSPASQPLPRKRPPVTQAAGALPGPGASPVPKTPARTLLAKQHKTQRSPVRIPFMQRPARRGPPPLARAVPEPGPRGRAGTEAGPGARGGRLGLVRVASALSSGSESSDRSGFRRQLTFIKESPGLRRRRSELSSAESAASAPQGASPRRGRPALPAVFLCSSRCEELRAAPRQGPAPARQRPPAARPSPGERPARRTTSESPSRLPVRAPAARPETVKRYASLPHISVARRPDGAVPAAPASADAARRSSDGEPRPLPRVAAPGTTWRRIRDEDVPHILRSTLPATALPLRGSTPEDAPAGPPPRKTSDAVVQTEEVAAPKTNSSTSPSLETREPPGAPAGGQLSLLGSDVDGPSLAKAPISAPFVHEGLGVAVGGFPASRHGSPSRSARVPPFNYVPSPMVVAATTDSAAEKAPATASATLLE", "length": 2029, "header": "sp|O95996-2|APCL_HUMAN Isoform 2 of Adenomatous polyposis coli protein 2 OS=Homo sapiens OX=9606 GN=APC2 PE=1 SV=1 CANONICAL=O95996-1" }, "locus": {} }, { "isoform_ac": "O95996-3", "url": "", "sequence": { "sequence": "MASSVAPYEQLVRQVEALKAENSHLRQELRDNSSHLSKLETETSGMKEVLKHLQGKLEQEARVLVSSGQTEVLEQLKALQMDITSLYNLKFQPPTLGPEPAARTPEGSPVHGSGPSKDSFGELSRATIRLLEELDRERCFLLNEIEKEEKEKLWYYSQLQGLSKRLDELPHVETFSMQMDLIRQQLEFEAQHIRSLMEERFGTSDEMVQRAQIRASRLEQIDKELLEAQDRVQQTEPQALLAVKSVPVDEDPETEVPTHPEDGTPQPGNSKVEVVFWLLSMLATRDQEDTARTLLAMSSSPESCVAMRRSGCLPLLLQILHGTEAAAGGRAGAPGAPGAKDARMRANAALHNIVFSQPDQGLARKEMRVLHVLEQIRAYCETCWDWLQARDGGPEGGGAGSAPIPIEPQICQATCAVMKLSFDEEYRRAMNELGGLQAVAELLQVDYEMHKMTRDPLNLALRRYAGMTLTNLTFGDVANKATLCARRGCMEAIVAQLASDSEELHQVVSSILRNLSWRADINSKKVLREAGSVTALVQCVLRATKESTLKSVLSALWNLSAHSTENKAAICQVDGALGFLVSTLTYKCQSNSLAIIESGGGILRNVSSLVATREDYRQVLRDHNCLQTLLQHLTSHSLTIVSNACGTLWNLSARSARDQELLWDLGAVGMLRNLVHSKHKMIAMGSAAALRNLLAHRPAKHQAAATAVSPGSCVPSLYVRKQRALEAELDARHLAQALEHLEKQGPPAAEAATKKPLPPLRHLDGLAQDYASDSGCFDDDDAPSSLAAAAATGEPASPAALSLFLGSPFLQGQALARTPPTRRGGKEAEKDTSGEAAVAAKAKAKLALAVARIDQLVEDISALHTSSDDSFSLSSGDPGQEAPREGRAQSCSPCRGPEGGRREAGSRAHPLLRLKAAHASLSNDSLNSGSASDGYCPREHMLPCPLAALASRREDPRCGQPRPSRLDLDLPGCQAEPPAREATSADARVRTIKLSPTYQHVPLLEGASRAGAEPLAGPGISPGARKQAWLPADHLSKVPEKLAAAPLSVASKALQKLAAQEGPLSLSRCSSLSSLSSAGRPGPSEGGDLDDSDSSLEGLEEAGPSEAELDSTWRAPGATSLPVAIPAPRRNRGRGLGVEDATPSSSSENYVQETPLVLSRCSSVSSLGSFESPSIASSIPSEPCSGQGSGTISPSELPDSPGQTMPPSRSKTPPLAPAPQGPPEATQFSLQWESYVKRFLDIADCRERCRLPSELDAGSVRFTVEKPDENFSCASSLSALALHEHYVQQDVELRLLPSACPERGGGAGGAGLHFAGHRRREEGPAPTGSRPRGAADQELELLRECLGAAVPARLRKVASALVPGRRALPVPVYMLVPAPAPAQEDDSCTDSAEGTPVNFSSAASLSDETLQGPPRDQPGGPAGRQRPTGRPTSARQAMGHRHKAGGAGRSAEQSRGAGKNRAGLELPLGRPPSAPADKDGSKPGRTRGDGALQSLCLTTPTEEAVYCFYGNDSDEEPPAAAPTPTHRRTSAIPRAFTRERPQGRKEAPAPSKAAPAAPPPARTQPSLIADETPPCYSLSSSASSLSEPEPSEPPAVHPRGREPAVTKDPGPGGGRDSSPSPRAAEELLQRCISSALPRRRPPVSGLRRRKPRATRLDERPAEGSRERGEEAAGSDRASDLDSVEWRAIQEGANSIVTWLHQAAAATREASSESDSILSFVSGLSVGSTLQPPKHRKGRQAEGEMGSARRPEKRGAASVKTSGSPRSPAGPEKPRGTQKTTPGVPAVLRGRTVIYVPSPAPRAQPKGTPGPRATPRKVAPPCLAQPAAPAKVPSPGQQRSRSLHRPAKTSELATLSQPPRSATPPARLAKTPSSSSSQTSPASQPLPRKRPPVTQAAGALPGPGASPVPKTPARTLLAKQHKTQRSPVRIPFMQRPARRGPPPLARAVPEPGPRGRAGTEAGPGARGGRLGLVRVASALSSGSESSDRSGFRRQLTFIKESPGLRRRRSELSSAESAASAPQGASPRRGRPALPAVFLCSSRCEELRAAPRQGPAPARQRPPAARPSPGERPARRTTSESPSRLPVRAPAARPETVKRYASLPHISVARRPDGAVPAAPASADAARRSSDGEPRPLPRVAAPGTTWRRIRDEDVPHILRSTLPATALPLRGSTPEDAPAGPPPRKTSDAVVQTEEVAAPKTNSSTSPSLETREPPGAPAGGQLSLLGSDVDGPSLAKAPISAPFVHEGLGVAVGGFPASRHGSPSRSARVPPFNYVPSPMVVAATTDSAAEKAPATASATLLE", "length": 2302, "header": "sp|O95996-3|APCL_HUMAN Isoform 3 of Adenomatous polyposis coli protein 2 OS=Homo sapiens OX=9606 GN=APC2 PE=1 SV=1 CANONICAL=O95996-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1455, "start_aa": "Ser", "end_pos": 1455, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1455", "evidence": [ { "id": "O95996", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 4, "start_aa": "Ser", "end_pos": 4, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser4", "evidence": [ { "id": "O95996", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95996" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "O95996", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95996" } ] } ], "phosphorylation": [ { "start_pos": 1585, "end_pos": 1585, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95996", "url": "https://www.uniprot.org/uniprot/O95996" } ], "site_lbl": "Ser1585" }, { "start_pos": 1587, "end_pos": 1587, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95996", "url": "https://www.uniprot.org/uniprot/O95996" } ], "site_lbl": "Ser1587" }, { "start_pos": 1675, "end_pos": 1675, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95996", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95996" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser1675" }, { "start_pos": 952, "end_pos": 952, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95996", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95996" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser952" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "O95996", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "Identification of APC2, a homologue of the adenomatous polyposis coli tumour suppressor.", "journal": "Current biology : CB", "date": "1999-01-28", "authors": "van Es J H, Kirkpatrick C, van de Wetering M, Molenaar M, Miles A, Kuipers J, Destr\u00e9e O, Peifer M, Clevers H", "evidence": [ { "database": "UniProtKB", "id": "O95996", "url": "https://www.uniprot.org/uniprot/O95996" } ], "reference": [ { "type": "PubMed", "id": "10021369", "url": "https://glygen.org/publication/PubMed/10021369" } ] }, { "title": "Analysis of APCL, a brain-specific adenomatous polyposis coli homologue, for mutations and expression in brain tumors.", "journal": "Jpn. J. Cancer Res.", "date": "1999", "authors": "Nakagawa H, Koyama K, Monden M, Nakamura Y", "evidence": [ { "database": "UniProtKB", "id": "O95996", "url": "https://www.uniprot.org/uniprot/O95996" } ], "reference": [ { "type": "PubMed", "id": "10551328", "url": "https://glygen.org/publication/PubMed/10551328" } ] }, { "title": "EB3, a novel member of the EB1 family preferentially expressed in the central nervous system, binds to a CNS-specific APC homologue.", "journal": "Oncogene", "date": "2000", "authors": "Nakagawa H, Koyama K, Murata Y, Morito M, Akiyama T, Nakamura Y", "evidence": [ { "database": "UniProtKB", "id": "O95996", "url": "https://www.uniprot.org/uniprot/O95996" } ], "reference": [ { "type": "PubMed", "id": "10644998", "url": "https://glygen.org/publication/PubMed/10644998" } ] }, { "title": "APCL, a central nervous system-specific homologue of adenomatous polyposis coli tumor suppressor, binds to p53-binding protein 2 and translocates it to the perinucleus.", "journal": "Cancer Res.", "date": "2000", "authors": "Nakagawa H, Koyama K, Murata Y, Morito M, Akiyama T, Nakamura Y", "evidence": [ { "database": "UniProtKB", "id": "O95996", "url": "https://www.uniprot.org/uniprot/O95996" } ], "reference": [ { "type": "PubMed", "id": "10646860", "url": "https://glygen.org/publication/PubMed/10646860" } ] }, { "title": "Human APC2 localization and allelic imbalance.", "journal": "Cancer research", "date": "2001-11-01", "authors": "Jarrett C R, Blancato J, Cao T, Bressette D S, Cepeda M, Young P E, King C R, Byers S W", "evidence": [ { "database": "UniProtKB", "id": "O95996", "url": "https://www.uniprot.org/uniprot/O95996" } ], "reference": [ { "type": "PubMed", "id": "11691822", "url": "https://glygen.org/publication/PubMed/11691822" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O95996", "url": "https://www.uniprot.org/uniprot/O95996" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O95996-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95996-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.", "journal": "Cell reports", "date": "2015", "authors": "Almuriekhi M, Shintani T, Fahiminiya S, Fujikawa A, Kuboyama K, Takeuchi Y, Nawaz Z, Nadaf J, Kamel H, Kitam AK, Samiha Z, Mahmoud L, Ben-Omran T, Majewski J, Noda M", "evidence": [ { "database": "UniProtKB", "id": "O95996", "url": "https://www.uniprot.org/uniprot/O95996" } ], "reference": [ { "type": "PubMed", "id": "25753423", "url": "https://glygen.org/publication/PubMed/25753423" } ] }, { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "O95996", "url": "" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.", "journal": "Clin. Genet.", "date": "2018", "authors": "Mejecase C, Mohand-Said S, El Shamieh S, Antonio A, Condroyer C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C", "evidence": [ { "database": "UniProtKB", "id": "O95996", "url": "https://www.uniprot.org/uniprot/O95996" } ], "reference": [ { "type": "PubMed", "id": "29120066", "url": "https://glygen.org/publication/PubMed/29120066" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95996", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95996" }, { "database": "O-GlcNAc Atlas", "id": "O95996", "url": "https://oglcnac.org/atlas/detail/O95996" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.", "journal": "American journal of human genetics", "date": "2019", "authors": "Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG", "evidence": [ { "database": "UniProtKB", "id": "O95996", "url": "https://www.uniprot.org/uniprot/O95996" } ], "reference": [ { "type": "PubMed", "id": "31585108", "url": "https://glygen.org/publication/PubMed/31585108" } ] }, { "title": "METTL3 promotes tumour development by decreasing APC expression mediated by APC mRNA N(6)-methyladenosine-dependent YTHDF binding.", "journal": "Nature communications", "date": "2021", "authors": "Wang W, Shao F, Yang X, Wang J, Zhu R, Yang Y, Zhao G, Guo D, Sun Y, Wang J, Xue Q, Gao S, Gao Y, He J, Lu Z", "evidence": [ { "database": "RefSeq", "id": "NP_005874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874" } ], "reference": [ { "type": "PubMed", "id": "34155197", "url": "https://glygen.org/publication/PubMed/34155197" } ] }, { "title": "What are the roles of global DNA and APC 2 gene promotor hypermethylation in multiple myeloma?", "journal": "Molecular biology reports", "date": "2021", "authors": "Pehlivan S, Serin I, Nursal AF, Oyaci Y, Gundes I, Pehlivan M", "evidence": [ { "database": "RefSeq", "id": "NP_005874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874" } ], "reference": [ { "type": "PubMed", "id": "34637096", "url": "https://glygen.org/publication/PubMed/34637096" } ] }, { "title": "High miR-3648 expression and low APC2 expression are associated with shorter survival and tumor progression in NSCLC.", "journal": "Histology and histopathology", "date": "2022", "authors": "Dong Y, Wu B, Wang X, Lu F, Li Q, Zhao Q", "evidence": [ { "database": "RefSeq", "id": "NP_005874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874" } ], "reference": [ { "type": "PubMed", "id": "34927228", "url": "https://glygen.org/publication/PubMed/34927228" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95996", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95996" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.", "journal": "Seizure", "date": "2023-08-18", "authors": "Jin Liang, Li Yun, Luo Sheng, Peng Qian, Zhai Qiong-Xiang, Zhai Jin-Xia, Gao Liang-Di, Guo Jia-Jun, Song Wang, Yi Yong-Hong, He Na, Chen Yong-Jun", "evidence": [ { "database": "RefSeq", "id": "NP_005874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005874" } ], "reference": [ { "type": "PubMed", "id": "37657306", "url": "https://glygen.org/publication/PubMed/37657306" } ] }, { "title": "Identification of a brain-specific APC homologue, APCL, and its interaction with beta-catenin.", "journal": "Cancer research", "date": "1998-11-15", "authors": "Nakagawa H, Murata Y, Koyama K, Fujiyama A, Miyoshi Y, Monden M, Akiyama T, Nakamura Y", "evidence": [ { "database": "UniProtKB", "id": "O95996", "url": "https://www.uniprot.org/uniprot/O95996" } ], "reference": [ { "type": "PubMed", "id": "9823329", "url": "https://glygen.org/publication/PubMed/9823329" } ] } ], "pathway": [ { "id": "hsa:10297", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10297", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A205-1", "protein_name": "APC regulator of WNT signaling pathway 2", "gene_name": "Apc2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGLLGLLSLLHSTFFGNQALQELKMASSVASYEQLVRQVEALKAENTHLRQELRDNSSHLSKLETETSGMKEVLKHLQGKLEQEARVLVSSGQTEVLEQLKALQTDISSLYNLKFHAPALGPEPAAQTPEGSPVHGPAPSKDSFGELSRATIRLLEELDQERCFLLSEIEKEEKEKLWYYSQLQGLSKRLDELPHVDTFSMQMDLIRQQLEFEAQHIRSLMEERFGTSDEMVQRAQIRASRLEQIDKELLEAQDRVQQTEPQALLAVKPVAVEEQEAEVPTHPEDVTPQPGNSKVEVVFWLLSMLATRDQEDTARTLLAMSSSPESCVAMRRSGCLPLLLQILHGTEAGSVGRTGTPGAPGAKDARMRANAALHNIVFSQPDQGLARKEMRVLHVLEQIRAYCETCWDWLQARDSGTESGTGDTPVPIEPQICQAACAVMKLSFDEEYRRAMNELGGLQAVAELLQVDYEMHKMTQDPLNLALRRYAGMTLTNLTFGDVANKATLCARRGCMEAIVAQLASESEELHQVVSSILRNLSWRADINSKKVLREVGSMTALMECVLRASKESTLKSVLSALWNLSAHSTENKAAICQVDGALGFLVSTLTYRCQGNSLAVIESGGGILRNVSSLIATREDYRQVLRDHNCLQTLLQHLTSHSLTIVSNACGTLWNLSARSPRDQELLWDLGAVGMLRNLVHSKHKMIAMGSAAALRNLLAHRPAKYQAAAMAVSPGTCVPSLYVRKQRALEAELDTRHLVHALGHLEKQGLPEAETTSKKPLPPLRHLDGLVQDYASDSGCFDDDDAPSLAAAATTAEPASPAVMSMFLGGPFLQGQALARTPPARQGGLEAEKETGGEAAVAAKAKAKLALAVARIDRLVEDISALHTSSDDSFSLSSGDPGQEAPREGRAQSCSPCRGTEGGRREAGSRAHPLLRLKAAHTSLSNDSLNSGSTSDGYCTREHMTPCPLAVLTEHRDGPVCGQTRPSRLDLDLPSRAELPARDTAATDARVRTIKLSPTYQHVPLLDGAPGAGVRPLVGLGTSPGTRKQAWIPADSLSKVPEKLVASPLPVTSKVLQKLVAQDGPMSLSRCSSLSSLSSTGHAVPSQVENLDDSDSSLEELEEAGPGEAELDRAWRASGSTSLPVSIPAPQRGRSRGLGVEDATPSSSSENCVQETPLVLSRCSSVSSLGSFESRSIASSIPSDPCSALGSGTVSPSELPDSPGQTMPPSRSRTPPAPPGQPEASQFSLQWESYVKRFLDIADCRERCQPPSELDAGSVRFTVEKPDENFSCASSLSALALHELYVQQDVELRLRPPACPERAVGGGGGHRRRDEATSRLDGPAPAGSRARSAADKELEALRECLGAAMPARLRKVASALVPGRRALPVPVYMLVPAPARGDDSGTDSAEGTPVNFSSAASLSDETLQGPSRDKPARPGDRQKPTGRAAPARQTRGHRPKAAGAGAGKSTEHTRGANRNRAGLELPLSRPQSARSNRDGSCQTRTRGDGALQSLCLTTPTEEAVYCFYDSDEEPPATAPPTRRASAIPRALKREKPAGRKETPTRATQPATLPVRAQPRLIVDETPPCYSLTSSASSLSEPEASEQPACHPRVEEQGSKQDSSPRAEEELLQRCISLAMPRRRTQVPSSRRRKPRAVRSDIRPTELPQKCREEVPGSDPASDLDSVEWQAIQEGANSIVTWLHQAAAKASLEASSESDSLLSLVSGLSASSTLQPSKLRKGRKPVAEAGGAWRPEKRGTTSTKGSGSPRFPSGPEKAKGTQKTMAGESAMLRGRTVIYTASPASRAQSKGISGPCSAPKKMGTSGTTQPETATKTPSPEQQRSRSLHRPGKISELAALSHPPRSATPPARLTKTPSSSSSQTSPASQSLPRRSPLATPTGGPLPGPGGSPVPKSPARALLAKQHKTQKSPVRIPFMQRPARRVPPPLARPSPEPGSRGRAGAEGTPGARGSRLGLVRVASTRSSGSESSDRSGFRRQLTFIKESPGLLRRRRSELSSADSTVSTSQTASPCRGRPALPAVFLCSSRCDELRASPRQPLAAQRVPQAKPGLAPRAPRRTSSESPSRLPVRATPGRPETVKRYASLPHISVSRRPDSAVSVPTTQANATRRGSDGEARPLPRVAAPGTTWRRIKDEDVPHILRSTLPATALPLRGSSPEDSPAGTPHRKTSDAVVQTEDVATSKTNSSTSPSLESRDPPQAPISGPVAPLGSDVDGPVLAKPPASAPFTHEGLSVVTGGFPTSRHGSPSRAARVPPFNYVPSPMVVATMTSDSAVEKAPVTSPASLLE", 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