{ "uniprot_canonical_ac": "A0AV02-1", "ptm_annotation": [], "sequence": { "header": "sp|A0AV02-1|S12A8_HUMAN Isoform 1 of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=2 SV=4 CANONICAL=A0AV02-1", "length": 714, "sequence": "MTQMSQVQELFHEAAQQDALAQPQPWWKTQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAESISDLLGLGNIWAVRGISVAVLLALLGINLAGVKWIIRLQLLLLFLLAVSTLDFVVGSFTHLDPEHGFIGYSPELLQNNTLPDYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" }, "uniprot_id": "S12A8_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16297188", "type": [ "PubMed" ], "id": "16297188" } ], "title": "Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris.", "journal": "J. Invest. Dermatol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182412.1", "id": "NP_001182412.1", "database": "RefSeq" } ], "authors": "Baumann C., Kuester W., Burkhardt H., Reis A., Traupe H., Lascorz J., Hueffmeier U., Boehm B., Kelsch R., Schuermeier-Horst F., Staender M.", "date": "2005" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11863360", "type": [ "PubMed" ], "id": "11863360" } ], "title": "Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map.", "journal": "Genomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182412.1", "id": "NP_001182412.1", "database": "RefSeq" } ], "authors": "See C.G., Riley J., Robinson P., Inerot A., Plumpton M., Enlund F., Martinsson T., Samuelsson L., Swanbeck G., Wahlstrom J., Cantone K., Chadha S., Christodolou C., Enerback C., Hewett D., Matthews P., Montgomery D., Polding J., Purvis I., Roses A., Smart D.", "date": "2002" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19472210", "type": [ "PubMed" ], "id": "19472210" } ], "title": "Molecular characterization of a human cation-Cl- cotransporter (SLC12A8A, CCC9A) that promotes polyamine and amino acid transport.", "journal": "Journal of cellular physiology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182412.1", "id": "NP_001182412.1", "database": "RefSeq" } ], "authors": "Daigle ND, Carpentier GA, Frenette-Cotton R, Simard MG, Lefoll MH, Noel M, Caron L, Noel J, Isenring P", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23325410", "type": [ "PubMed" ], "id": "23325410" } ], "title": "Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.", "journal": "American journal of physiology. Cell physiology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182412.1", "id": "NP_001182412.1", "database": "RefSeq" } ], "authors": "Gagnon KB, Delpire E", "date": "2013" } ], "uniprot_ac": "A0AV02", "site_annotation": [ { "end_pos": 359, "annotation": "n_glycosylation_sequon", "start_pos": 357 }, { "end_pos": 485, "annotation": "n_glycosylation_sequon", "start_pos": 483 }, { "end_pos": 647, "annotation": "n_glycosylation_sequon", "start_pos": 645 }, { "end_pos": 563, "annotation": "n_glycosylation_sequon", "start_pos": 561 }, { "end_pos": 223, "annotation": "n_glycosylation_sequon", "start_pos": 221 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0AV02#H7C5B1-1", "isoform_ac": "H7C5B1-1", "locus": { "end_pos": 125177828, "start_pos": 125190525, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000473262", "id": "ENST00000473262", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419424", "id": "ENSP00000419424", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C5B1-1|S12A8_HUMAN Computationally mapped isoform of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=2 SV=1 CANONICAL=A0AV02-1", "length": 160, "sequence": "XQDALAQPQPWWKTQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQVPCISPALLNPSRICWASGISGLCEEFQLRCFWPCWALTSQVSNG" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#A0AV02-2", "isoform_ac": "A0AV02-2", "locus": {}, "sequence": { "header": "sp|A0AV02-2|S12A8_HUMAN Isoform 2 of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=2 SV=4 CANONICAL=A0AV02-1", "length": 743, "sequence": "MLPLERTITYRDMSSFIQVKNHFNVVNVTCVSYRSTCFRDMRRFILDALAQPQPWWKTQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAESISDLLGLGNIWAVRGISVAVLLALLGINLAGVKWIIRLQLLLLFLLAVSTLDFVVGSFTHLDPEHGFIGYSPELLQNNTLPDYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#A0AV02-3", "isoform_ac": "A0AV02-3", "locus": { "end_pos": 125083893, "start_pos": 125120825, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000430155", "id": "ENST00000430155", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000415713", "id": "ENSP00000415713", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AV02-3|S12A8_HUMAN Isoform 3 of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=2 SV=4 CANONICAL=A0AV02-1", "length": 515, "sequence": "MRRAAAGGLAVGQLPGEGPAGEEGAALGKAMRGGGCSPHSPSGCLSGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#C9IZN2-1", "isoform_ac": "C9IZN2-1", "locus": { "end_pos": 125177933, "start_pos": 125190476, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000462437", "id": "ENST00000462437", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000418636", "id": "ENSP00000418636", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9IZN2-1|S12A8_HUMAN Computationally mapped isoform of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=2 SV=1 CANONICAL=A0AV02-1", "length": 112, "sequence": "MWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAES" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#A0AV02-4", "isoform_ac": "A0AV02-4", "locus": {}, "sequence": { "header": "sp|A0AV02-4|S12A8_HUMAN Isoform 4 of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=2 SV=4 CANONICAL=A0AV02-1", "length": 375, "sequence": "MAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEGSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#A0AV02-5", "isoform_ac": "A0AV02-5", "locus": {}, "sequence": { "header": "sp|A0AV02-5|S12A8_HUMAN Isoform 5 of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=2 SV=4 CANONICAL=A0AV02-1", "length": 308, "sequence": "MCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#A0AV02-1", "isoform_ac": "A0AV02-1", "locus": { "end_pos": 125083893, "start_pos": 125211349, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000469902", "id": "ENST00000469902", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000418783", "id": "ENSP00000418783", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AV02-1|S12A8_HUMAN Isoform 1 of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=2 SV=4 CANONICAL=A0AV02-1", "length": 714, "sequence": "MTQMSQVQELFHEAAQQDALAQPQPWWKTQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAESISDLLGLGNIWAVRGISVAVLLALLGINLAGVKWIIRLQLLLLFLLAVSTLDFVVGSFTHLDPEHGFIGYSPELLQNNTLPDYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#H7C5L2-1", "isoform_ac": "H7C5L2-1", "locus": { "end_pos": 125110273, "start_pos": 125190450, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000479826", "id": "ENST00000479826", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000420197", "id": "ENSP00000420197", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C5L2-1|S12A8_HUMAN Computationally mapped isoform of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=2 SV=2 CANONICAL=A0AV02-1", "length": 207, "sequence": "LGWCVHILHDQHLWGCALPEDWLAGGKHRSAPGHVPGVLRHPGGPRHGAVWHWRRGAQQHRQRWRLLHDLLGPGWADGRHHRAALCVWTEHGFIGYSPELLQNNTLPDYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCM" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:84561", "resource": "KEGG Pathway", "id": "hsa:84561", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182412.1", "annotation": "Review summarizes three human disorders that have been linked to the mutation/dysfunction of Na-Cl, Na-K-2Cl, and K-Cl cotransporters (Bartter's, Gitleman's, and Andermann's syndromes). Review article", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182412.1", "id": "NP_001182412.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182412.1", "annotation": "SLC12A8 is a susceptibility locus for psoriasis vulgaris. GeneRIF: Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182412.1", "id": "NP_001182412.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182412.1", "annotation": "Maps to 3q21. Associated with suseptibility to psoriasis", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182412.1", "id": "NP_001182412.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182412.1", "annotation": "Molecular characterization of a human cation-Cl- cotransporter (SLC12A8A, CCC9A) that promotes polyamine and amino acid transport.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182412.1", "id": "NP_001182412.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A0AV02#function", "annotation": "Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02#function", "id": "A0AV02", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q8CJI3-1", "protein_name": "Solute carrier family 12 member 8", "sequence": { "length": 707, "sequence": "MAQRSPQELFHEAAQQGVLARSQPWWKIQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGLLLVSFVILVALITVLSGIGVAEHGWMGSGGVYSMISSVLGGQMGGTVGLLYVFGQCVAGAMYLTGFAESISDLLGLGNIWAVRGISVAVLLALLGINLAGVKWIIRLQLLLLSLLAVSTLDFVVGSFTHLDPEHGFIGYSPELLQSNILPEYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPADQHTPRLPSSCWVSRGFSNIIFAFLLGAVCTREALRSDFLIAEKVSLVGFLFLLGLYISSLASCMGGLYGAPRILQCIAQDKVIPALAFLGNGKGPNKTPVAAICLTSLVTMAFVLVGQVNVLAPVVTINFMLTYIAVDYSYFALSMAHCGLAQSPEPMPRQGPDALHCSEHLLQDKAPSYGSDTPAGSLSEGTLLEFTKDMDQLLQPIGGLESQPRSREVNQVLKSQKHKCKKDAKQTLQDSFLLDAESPLSFSMGASERLSVASCGEQESYQNQQTSRSESHDHLVPDLCTQPRANGEDFFLKCRLQEQQVQRRPSAFYVCMCNPWVSLLGALASLLIMFVIQWLYTLASMGVAALVYLYIGQASPGLYLGSASNFSFFQWMKSFLVPSCRSLRSTREQIILAPSPAKVDMAMTQAYPGQWQTSATRERYHRSSFLSREQLMPPY" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/11628", "id": "11628", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8VI23-1", "protein_name": "Solute carrier family 12 member 8", "sequence": { "length": 705, "sequence": "MAQRSPQELFHEAAQQGILAQPQPWWKIQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGLLLVSFVVLVALITVLSGIGVAEHGGISSGGVYSMISSVLGGQMGGTVGLLYVFGQCVAGAMYITGFAESISDLLGLGDIWAVRGISVAVLLALLGINLAGVKWIIRLQLLLLLLLAVSTLDFVVGSFTHLDPEHGFIGYSPELLQSNILPEYSPGESFFTVFGVFFPAATGVMAGFNMGGDLRDPADSVPLGSLAAVGVSWFLYIIFAFLLGAVCTREALRSDFLIAEKVSLVGFLFLLGLYISSLASCMGGLYGAPRILQCIAQDKVIPALAFLANGKGPNKTPVAAICLTSLVTMAFVLVGQVNVLAPVVTINFMLTYIMVDYSYFALSMAHCGLAPSPEPVPRQGPDTLHCSEHLLQDRAPSYGSDVPARSLSEGTLLEFTKDMDQFLQPIEELESRQLGSREGNNPKNQKRKGKKGAKQTLQDSFLLDPGSPLSFPTRTSERLSVAFCGEQESYQKQQTSRSESHDHLVPDLRNQPRVNREDFFLKCRLQEQEIQRRPSVFYACMCNPWVSLLGALASLLIMFVIQWLYTLASMGVAALVYFYIGQASPGLYLGSASNFSFFQWMKSFLVPSCRSLRSAQEQIILAPSPAKVDMAMTQLTQDNADFATRDRYHHSSFLSREQLMPPY" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/11628", "id": "11628", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "K", "disease": [ { "synonyms": [ { "id": "9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "AML - acute Myeloid Leukemia", "description": "" }, { "id": "9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "Leukemia, Myelocytic, acute", "description": "" }, { "id": "9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "acute myeloblastic leukaemia", "description": "" }, { "id": "9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "acute myeloblastic leukemia", "description": "" }, { "id": "9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "acute myelogenous leukaemia", "description": "" }, { "id": "9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "acute myelogenous leukemia", "description": "" }, { "id": "9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "acute myeloid leukaemia", "description": "" } ], "recommended_name": { "id": "9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells." } } ], "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200313431", "id": "rs200313431", "database": "dbSNP" }, { "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200313431", "id": "rs200313431", "database": "1000Genomes" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200313431", "id": "rs200313431", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs200313431#frequency_tab", "id": "rs200313431", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs200313431", "id": "rs200313431", "database": "gnomAD" } ], "sequence_mut": "N", "start_pos": 498, "keywords": [ "ebi", "disease" ], "end_pos": 498, "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KQT->NQT)." }, { "sequence_org": "D", "disease": [ { "synonyms": [ { "id": "9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "AML - 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Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015379", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" } ], "name": "potassium:chloride symporter activity", "id": "GO:0015379" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005623", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" } ], "name": "cell", "id": "GO:0005623" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006884", "pmid": 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"ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "name": "SLC12A8", "locus": { "end_pos": 125082636, "start_pos": 125212864, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000221955", "id": "ENSG00000221955", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "type": "synonym", "resource": "UniProtKB", "name": "Cation-chloride cotransporter 9" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0AV02", "type": "synonym", "resource": "RefSeq", "name": "solute carrier family 12 (sodium/potassium/chloride transporters), member 8; cation-chloride cotransporter 9" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0AV02", "type": "synonym", "resource": "RefSeq", "name": "solute carrier family 12 member 8" }, { "url": "https://www.uniprot.org/uniprot/A0AV02", "type": "recommended", "resource": "UniProtKB", "name": "Solute carrier family 12 member 8" } ] }