{ "uniprot_canonical_ac": "O95865-1", "uniprot_ac": "O95865", "uniprot_id": "DDAH2_HUMAN", "mass": { "chemical_mass": 29644.0, "monoisotopic_mass": 29644.0 }, "refseq": { "ac": "NP_001289936", "name": "putative hydrolase DDAH2", "summary": "This gene encodes a dimethylarginine dimethylaminohydrolase. The encoded enzyme functions in nitric oxide generation by regulating the cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. The protein may be localized to the mitochondria. Alternative splicing resulting in multiple transcript variants. [provided by RefSeq, Dec 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289936" }, "gene_names": [ { "name": "DDAH2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95865", "id": "O95865" }, { "name": "DDAH2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289936", "id": "NP_001289936" }, { "name": "DDAH; DDAHII; G6a; HEL-S-277; NG30", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289936", "id": "NP_001289936" }, { "name": "DDAH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95865", "id": "O95865" }, { "name": "G6A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95865", "id": "O95865" }, { "name": "NG30", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95865", "id": "O95865" } ], "protein_names": [ { "name": "Putative hydrolase DDAH2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95865" }, { "name": "3.-.-.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95865" }, { "name": "DDAH-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95865" }, { "name": "DDAHII", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95865" }, { "name": "Inactive N(G),N(G)-dimethylarginine dimethylaminohydrolase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95865" }, { "name": "Inactive dimethylarginine dimethylaminohydrolase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95865" }, { "name": "Protein G6a", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95865" }, { "name": "S-phase protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95865" }, { "name": "dimethylarginine dimethylaminohydrolase II; n(G),N(G)-dimethylarginine dimethylaminohydrolase 2; S-phase protein; dimethylargininase-2; epididymis secretory protein Li 277; testis tissue sperm-binding protein Li 54e; inactive dimethylarginine dimethylaminohydrolase 2; inactive N(G),N(G)-dimethylarginine dimethylaminohydrolase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289936", "id": "NP_001289936" }, { "name": "putative hydrolase DDAH2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289936", "id": "NP_001289936" } ], "function": [ { "annotation": "Assessment of DDAH1 and DDAH2 Contributions to Psychiatric Disorders via In Silico Methods. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001289936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289936" }, { "database": "PubMed", "id": "36233204", "url": "https://glygen.org/publication/PubMed/36233204" } ] }, { "annotation": "DDAH-2 could play an important role in IL-1beta-induced NO production and in osteoarthritis pathogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001289936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289936" }, { "database": "PubMed", "id": "21898353", "url": "https://glygen.org/publication/PubMed/21898353" } ] }, { "annotation": "Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation.", "evidence": [ { "database": "UniProtKB", "id": "H0Y7N1", "url": "https://www.uniprot.org/uniprot/H0Y7N1#function" }, { "database": "UniProtKB", "id": "ARBA00025660", "url": "https://www.uniprot.org/uniprot/ARBA00025660#function" }, { "database": "UniProtKB", "id": "Q5SRR8", "url": "https://www.uniprot.org/uniprot/Q5SRR8#function" }, { "database": "UniProtKB", "id": "Q5SSV3", "url": "https://www.uniprot.org/uniprot/Q5SSV3#function" }, { "database": "UniProtKB", "id": "A0A140T971", "url": "https://www.uniprot.org/uniprot/A0A140T971#function" } ] }, { "annotation": "Interference of KLF9 relieved the development of gestational diabetes mellitus by upregulating DDAH2.", "evidence": [ { "database": "RefSeq", "id": "NP_001289936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289936" }, { "database": "PubMed", "id": "34787071", "url": "https://glygen.org/publication/PubMed/34787071" } ] }, { "annotation": "Polymorphism (-499C/G) in DDAH2 promoter may act as a protective factor for metabolic syndrome: A case-control study in Azar-Cohort population.", "evidence": [ { "database": "RefSeq", "id": "NP_001289936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289936" }, { "database": "PubMed", "id": "34283907", "url": "https://glygen.org/publication/PubMed/34283907" } ] }, { "annotation": "Putative hydrolase with unknown substrate (Probable). Does not hydrolyze N(G),N(G)-dimethyl-L-arginine (ADMA) which acts as an inhibitor of NOS (PubMed:37296100, PubMed:21493890). In endothelial cells, induces expression of vascular endothelial growth factor (VEGF) via phosphorylation of the transcription factor SP1 by PKA in a process that is independent of NO and NO synthase (By similarity). Similarly, enhances pancreatic insulin secretion through SP1-mediated transcriptional up-regulation of secretagogin/SCGN, an insulin vesicle docking protein (By similarity). Upon viral infection, relocates to mitochondria where it promotes mitochondrial fission through activation of DNM1L leading to the inhibition of innate response activation mediated by MAVS (PubMed:33850055).", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865#function" }, { "database": "PubMed", "id": "21493890", "url": "https://glygen.org/publication/PubMed/21493890" }, { "database": "UniProtKB", "id": "Q99LD8", "url": "https://www.uniprot.org/uniprot/Q99LD8#function" }, { "database": "PubMed", "id": "37296100", "url": "https://glygen.org/publication/PubMed/37296100" }, { "database": "PubMed", "id": "10493931", "url": "https://glygen.org/publication/PubMed/10493931" }, { "database": "PubMed", "id": "33850055", "url": "https://glygen.org/publication/PubMed/33850055" } ] }, { "annotation": "This gene encodes a dimethylarginine dimethylaminohydrolase. The encoded enzyme functions in nitric oxide generation by regulating the cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. The protein may be localized to the mitochondria. Alternative splicing resulting in multiple transcript variants. [provided by RefSeq, Dec 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001289936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289936" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs940386874", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs940386874" }, { "id": "rs940386874", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs940386874#frequency_tab" }, { "id": "rs940386874", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs940386874" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 12, "end_pos": 12, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "6", "chr_pos": "31729127", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S12", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs927682425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs927682425" }, { "id": "rs927682425", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs927682425#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 162, "end_pos": 162, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "6", "chr_pos": "31728279", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S162", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1258841323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1258841323" }, { "id": "rs1258841323", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1258841323" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 162, "end_pos": 162, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "6", "chr_pos": "31727279", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S162", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760238681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760238681" }, { "id": "rs760238681", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760238681" }, { "id": "rs760238681", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760238681#frequency_tab" }, { "id": "rs760238681", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760238681" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 167, "end_pos": 167, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "6", "chr_pos": "31728264", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S167", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 162, "end_pos": 162, "sequence_org": "S", "sequence_mut": "D", "comment": "No effect on inhibition of MAVS-mediated innate response activation.", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" }, { "database": "PubMed", "id": "33850055", "url": "https://glygen.org/publication/PubMed/33850055" } ] }, { "start_pos": 163, "end_pos": 163, "sequence_org": "T", "sequence_mut": "D", "comment": "No effect on inhibition of MAVS-mediated innate response activation.", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" }, { "database": "PubMed", "id": "33850055", "url": "https://glygen.org/publication/PubMed/33850055" } ] }, { "start_pos": 183, "end_pos": 183, "sequence_org": "T", "sequence_mut": "D", "comment": "No effect on inhibition of MAVS-mediated innate response activation.", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" }, { "database": "PubMed", "id": "33850055", "url": "https://glygen.org/publication/PubMed/33850055" } ] }, { "start_pos": 203, "end_pos": 203, "sequence_org": "T", "sequence_mut": "D", "comment": "Loss of mitochondrial translocation upon viral infection. Loss of inhibition of MAVS-mediated innate response activation.", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" }, { "database": "PubMed", "id": "33850055", "url": "https://glygen.org/publication/PubMed/33850055" } ] }, { "start_pos": 209, "end_pos": 209, "sequence_org": "S", "sequence_mut": "D", "comment": "No effect on inhibition of MAVS-mediated innate response activation.", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" }, { "database": "PubMed", "id": "33850055", "url": "https://glygen.org/publication/PubMed/33850055" } ] }, { "start_pos": 211, "end_pos": 211, "sequence_org": "T", "sequence_mut": "D", "comment": "Loss of mitochondrial translocation upon viral infection. Loss of inhibition of MAVS-mediated innate response activation.", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" }, { "database": "PubMed", "id": "33850055", "url": "https://glygen.org/publication/PubMed/33850055" } ] }, { "start_pos": 245, "end_pos": 245, "sequence_org": "S", "sequence_mut": "D", "comment": "Loss of mitochondrial translocation upon viral infection. Loss of inhibition of MAVS-mediated innate response activation.", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" }, { "database": "PubMed", "id": "33850055", "url": "https://glygen.org/publication/PubMed/33850055" } ] }, { "start_pos": 253, "end_pos": 253, "sequence_org": "S", "sequence_mut": "D", "comment": "Loss of mitochondrial translocation upon viral infection. Loss of inhibition of MAVS-mediated innate response activation.", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" }, { "database": "PubMed", "id": "33850055", "url": "https://glygen.org/publication/PubMed/33850055" } ] }, { "start_pos": 68, "end_pos": 68, "sequence_org": "S", "sequence_mut": "D", "comment": "No effect on inhibition of MAVS-mediated innate response activation.", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" }, { "database": "PubMed", "id": "33850055", "url": "https://glygen.org/publication/PubMed/33850055" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "88.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213722" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "84.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213722" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213722" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "93.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213722" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213722" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213722" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "83.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213722" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "89.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213722" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213722" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "83.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213722" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "82.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213722" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213722" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "96.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213722" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95865", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95865" } ], "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", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "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, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95865", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95865" } ], "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 of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95865", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95865" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "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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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" } ], "common_name": "Human" } ], "gene": [ { "name": "DDAH2", "url": "https://www.uniprot.org/uniprot/O95865", "locus": { "chromosome": "HSCHR6_MHC_MANN_CTG1", "start_pos": 3032085, "end_pos": 3035664, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000233076", "url": "https://www.ensembl.org/id/ENSG00000233076" } ] } } ], "crossref": [ { "id": "ENSG00000213722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213722", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "3.5.3.18", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.5.3.18&UniProtAcc=O95865", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "DDAH2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDAH2", 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Peptide", "id": "ENSP00000408699.1", "url": "https://www.ensembl.org/id/ENSP00000408699.1" } ] } }, { "isoform_ac": "O95865-1", "url": "", "sequence": { "sequence": "MGTPGEGLGRCSHALIRGVPESLASGEGAGAGLPALDLAKAQREHGVLGGKLRQRLGLQLLELPPEESLPLGPLLGDTAVIQGDTALITRPWSPARRPEVDGVRKALQDLGLRIVEIGDENATLDGTDVLFTGREFFVGLSKWTNHRGAEIVADTFRDFAVSTVPVSGPSHLRGLCGMGGPRTVVAGSSDAAQKAVRAMAVLTDHPYASLTLPDDAAADCLFLRPGLPGVPPFLLHRGGGDLPNSQEALQKLSDVTLVPVSCSELEKAGAGLSSLCLVLSTRPHS", "length": 285, "header": "sp|O95865-1|DDAH2_HUMAN Isoform 1 of Putative hydrolase DDAH2 OS=Homo sapiens OX=9606 GN=DDAH2 PE=1 SV=1 CANONICAL=O95865-1" }, "locus": { "chromosome": "HSCHR6_MHC_QBL_CTG1", "start_pos": 2984972, "end_pos": 2983051, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000400062.5", "url": "https://www.ensembl.org/id/ENST00000400062.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000382935.1", "url": "https://www.ensembl.org/id/ENSP00000382935.1" } ] } }, { "isoform_ac": "Q5SRR8-1", "url": "", "sequence": { "sequence": "MGTPGEGLGRCSHALIRGVPESLASGEGAGAGLPALDLAKAQREHGVLGGKLRQRLGLQLLELPPEESLPLGPLLGDTAVIQGDTALITRPWSPARRPEVDGVRKALQDLGLRIVEIGDENATLDGTDVLFTGREFFVGLSKWTNHRGAEIVADTFRDFAVSTVPVSGPSHLRGLCGMGGPRTVVAGSSDAAQKAVRAMAVLTDHPYASLTLPDDAAADCLFLRPGLPGVPPFLLH", "length": 236, "header": "tr|Q5SRR8-1|DDAH2_HUMAN Computationally mapped isoform of Putative hydrolase DDAH2 OS=Homo sapiens OX=9606 GN=DDAH2 PE=1 SV=2 CANONICAL=O95865-1" }, "locus": { "chromosome": "HSCHR6_MHC_QBL_CTG1", "start_pos": 2984972, "end_pos": 2983387, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439767.5", "url": "https://www.ensembl.org/id/ENST00000439767.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000388456.1", "url": "https://www.ensembl.org/id/ENSP00000388456.1" } ] } }, { "isoform_ac": "Q5SSV3-1", "url": "", "sequence": { "sequence": "MGTPGEGLGRCSHALIRGVPESLASGEGAGAGLPALDLAKAQREHGVLGGKLRQRLGLQLLELPPEESLPLGPLLGDTAVIQGDTALITRPWSPARRPEVDGVRKALQDLGLRIVEIGDENATLDGTDVLFTGREFFVGLSKWTNHRGAEIVADTFRDFAVSTVPVSGPSHLRGLCGMGGPRTVVAGSSDAAQKAVRAMAVLTDHPYASLTLPDDAAADCLFLRPG", "length": 226, "header": "tr|Q5SSV3-1|Q5SSV3_HUMAN Computationally mapped isoform of dimethylargininase OS=Homo sapiens OX=9606 GN=DDAH2 PE=1 SV=1 CANONICAL=O95865-1" }, "locus": { "chromosome": "HSCHR6_MHC_COX_CTG1", "start_pos": 3206449, "end_pos": 3204894, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000434107.1", "url": "https://www.ensembl.org/id/ENST00000434107.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000410144.1", "url": "https://www.ensembl.org/id/ENSP00000410144.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 12, "start_aa": "Ser", "end_pos": 12, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser12", "evidence": [ { "id": "O95865", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95865" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 162, "start_aa": "Ser", "end_pos": 162, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser162", "evidence": [ { "id": "O95865", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95865" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 167, "start_aa": "Ser", "end_pos": 167, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser167", "evidence": [ { "id": "O95865", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95865" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "O95865", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95865" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 170, "start_aa": "Ser", "end_pos": 170, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser170", "evidence": [ { "id": "O95865", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95865" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 261, "start_aa": "Ser", "end_pos": 261, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser261", "evidence": [ { "id": "O95865", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95865" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "O95865", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95865" } ] } ], "phosphorylation": [ { "start_pos": 22, "end_pos": 22, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95865", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95865" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser22" }, { "start_pos": 3, "end_pos": 3, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95865", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95865" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Thr3" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Genes encoding three new members of the leukocyte antigen 6 superfamily and a novel member of Ig superfamily, together with genes encoding the regulatory nuclear chloride ion channel protein (hRNCC) and an N omega-N omega-dimethylarginine dimethylaminohydrolase homologue, are found in a 30-kb segment of the MHC class III region.", "journal": "J. Immunol.", "date": "1999", "authors": "Ribas G, Neville M, Wixon JL, Cheng J, Campbell RD", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" } ], "reference": [ { "type": "PubMed", "id": "10384126", "url": "https://glygen.org/publication/PubMed/10384126" } ] }, { "title": "Identification of two human dimethylarginine dimethylaminohydrolases with distinct tissue distributions and homology with microbial arginine deiminases.", "journal": "The Biochemical journal", "date": "1999", "authors": "Leiper JM, Santa Maria J, Chubb A, MacAllister RJ, Charles IG, Whitley GS, Vallance P", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" } ], "reference": [ { "type": "PubMed", "id": "10493931", "url": "https://glygen.org/publication/PubMed/10493931" } ] }, { "title": "Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse.", "journal": "Genome Res.", "date": "2003", "authors": "Xie T, Rowen L, Aguado B, Ahearn ME, Madan A, Qin S, Campbell RD, Hood L", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" } ], "reference": [ { "type": "PubMed", "id": "14656967", "url": "https://glygen.org/publication/PubMed/14656967" } ] }, { "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": "O95865", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95865" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Dimethylarginine dimethylaminohydrolase-1 is the critical enzyme for degrading the cardiovascular risk factor asymmetrical dimethylarginine.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2011-07", "authors": "Hu Xinli, Atzler Dorothee, Xu Xin, Zhang Ping, Guo Haipeng, Lu Zhongbing, Fassett John, Schwedhelm Edzard, B\u00f6ger Rainer H, Bache Robert J, Chen Yingjie", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" } ], "reference": [ { "type": "PubMed", "id": "21493890", "url": "https://glygen.org/publication/PubMed/21493890" } ] }, { "title": "Dimethylarginine dimethylaminohydrolase 2, a newly identified mitochondrial protein modulating nitric oxide synthesis in normal human chondrocytes.", "journal": "Arthritis Rheum.", "date": "2012", "authors": "Cillero-Pastor B, Mateos J, Fernandez-Lopez C, Oreiro N, Ruiz-Romero C, Blanco FJ", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" }, { "database": "RefSeq", "id": "NP_001289936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289936" } ], "reference": [ { "type": "PubMed", "id": "21898353", "url": "https://glygen.org/publication/PubMed/21898353" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95865", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95865" }, { "database": "O-GlcNAc Atlas", "id": "O95865", "url": "https://oglcnac.org/atlas/detail/O95865" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95865", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95865" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "DDAH2 suppresses RLR-MAVS-mediated innate antiviral immunity by stimulating nitric oxide-activated, Drp1-induced mitochondrial fission.", "journal": "Science signaling", "date": "2021", "authors": "Huang S, Li Z, Wu Z, Liu C, Yu M, Wen M, Zhang L, Wang X", "evidence": [ { "database": "UniProtKB", "id": "O95865", "url": "https://www.uniprot.org/uniprot/O95865" } ], "reference": [ { "type": "PubMed", "id": "33850055", "url": "https://glygen.org/publication/PubMed/33850055" } ] }, { "title": "O-GlcNAcylation Quantification of Certain Protein by the Proximity Ligation Assay and Clostridium perfringen OGA(D298N)(CpOGA(D298N)).", "journal": "ACS chemical biology", "date": "2021", "authors": "Song J, Liu C, Wang X, Xu B, Liu X, Li Y, Xia J, Li Y, Zhang C, Li D, Sun H", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95865", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95865" }, { "database": "O-GlcNAc Atlas", "id": "O95865", "url": "https://oglcnac.org/atlas/detail/O95865" } ], "reference": [ { "type": "PubMed", "id": "34105348", "url": "https://glygen.org/publication/PubMed/34105348" } ] }, { "title": "Polymorphism (-499C/G) in DDAH2 promoter may act as a protective factor for metabolic syndrome: A case-control study in Azar-Cohort population.", "journal": "Archives of endocrinology and metabolism", "date": "2021", "authors": "Faramarzi E, Aftabi Y, Ansarin K, Somi MH, Gilani N, Seyedrezazadeh E", "evidence": [ { "database": "RefSeq", "id": "NP_001289936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289936" } ], "reference": [ { "type": "PubMed", "id": "34283907", "url": "https://glygen.org/publication/PubMed/34283907" } ] }, { "title": "Interference of KLF9 relieved the development of gestational diabetes mellitus by upregulating DDAH2.", "journal": "Bioengineered", "date": "2022", "authors": "Chen W, Wang H, Liu J, Li K", "evidence": [ { "database": "RefSeq", "id": "NP_001289936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289936" } ], "reference": [ { "type": "PubMed", "id": "34787071", "url": "https://glygen.org/publication/PubMed/34787071" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95865", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95865" } ], "reference": [ { "type": "PubMed", 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