{ "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=1 SV=4 CANONICAL=A0AV02-1", "length": 714, "sequence": "MTQMSQVQELFHEAAQQDALAQPQPWWKTQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAESISDLLGLGNIWAVRGISVAVLLALLGINLAGVKWIIRLQLLLLFLLAVSTLDFVVGSFTHLDPEHGFIGYSPELLQNNTLPDYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" }, "uniprot_id": "S12A8_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Human", "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/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" } ], "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/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" } ], "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" } ], "uniprot_ac": "A0AV02", "site_annotation": [ { "end_pos": 223, "annotation": "n_glycosylation_sequon", "start_pos": 221 }, { "end_pos": 359, "annotation": "n_glycosylation_sequon", "start_pos": 357 }, { "end_pos": 485, "annotation": "n_glycosylation_sequon", "start_pos": 483 }, { "end_pos": 563, "annotation": "n_glycosylation_sequon", "start_pos": 561 }, { "end_pos": 647, "annotation": "n_glycosylation_sequon", "start_pos": 645 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0AV02#A0AV02-1", "isoform_ac": "A0AV02-1", "locus": { "end_pos": 125083893, "strand": "+", "start_pos": 125211349, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000393469", "id": "ENST00000393469", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000377112", "id": "ENSP00000377112", "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=1 SV=4 CANONICAL=A0AV02-1", "length": 714, "sequence": "MTQMSQVQELFHEAAQQDALAQPQPWWKTQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAESISDLLGLGNIWAVRGISVAVLLALLGINLAGVKWIIRLQLLLLFLLAVSTLDFVVGSFTHLDPEHGFIGYSPELLQNNTLPDYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" } }, { "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=1 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, "strand": "+", "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=1 SV=4 CANONICAL=A0AV02-1", "length": 515, "sequence": "MRRAAAGGLAVGQLPGEGPAGEEGAALGKAMRGGGCSPHSPSGCLSGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" } }, { "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=1 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=1 SV=4 CANONICAL=A0AV02-1", "length": 308, "sequence": "MCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#C9IZN2-1", "isoform_ac": "C9IZN2-1", "locus": { "end_pos": 125177933, "strand": "+", "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=1 SV=1 CANONICAL=A0AV02-1", "length": 112, "sequence": "MWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAES" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#H7C5B1-1", "isoform_ac": "H7C5B1-1", "locus": { "end_pos": 125177828, "strand": "+", "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=1 SV=1 CANONICAL=A0AV02-1", "length": 160, "sequence": "XQDALAQPQPWWKTQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQVPCISPALLNPSRICWASGISGLCEEFQLRCFWPCWALTSQVSNG" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#H7C5L2-1", "isoform_ac": "H7C5L2-1", "locus": { "end_pos": 125110273, "strand": "+", "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=1 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.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" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Slc12a8", "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" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Slc12a8", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "A", "alt_nt": "null", "chr_id": "3", "ref_nt": "T", "chr_pos": "125177845C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759173833", "id": "rs759173833", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759173833", "id": "rs759173833", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs759173833#frequency_tab", "id": "rs759173833", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs759173833", "id": "rs759173833", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "T", "start_pos": 174, "keywords": [ "ebi", "germline" ], "end_pos": 174, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLT)." }, { "sequence_org": "N", "alt_nt": "null", "chr_id": "3", "ref_nt": "C", "chr_pos": "125135743T>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755228389", "id": "rs755228389", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755228389", "id": "rs755228389", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs755228389#frequency_tab", "id": "rs755228389", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs755228389", "id": "rs755228389", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_mut": "S", "start_pos": 221, "keywords": [ "ebi", "germline" ], "end_pos": 221, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->SNT)." }, { "sequence_org": "T", "alt_nt": "null", "chr_id": "3", "ref_nt": "A", "chr_pos": "125135737G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750288728", "id": "rs750288728", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750288728", "id": "rs750288728", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs750288728", "id": "rs750288728", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_mut": "M", "start_pos": 223, "keywords": [ "ebi", "germline" ], "end_pos": 223, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNM)." }, { "sequence_org": "D", "alt_nt": "null", "chr_id": "3", "ref_nt": "T", "chr_pos": "125135729C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1031762335", "id": "rs1031762335", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1031762335#frequency_tab", "id": "rs1031762335", "database": "TOPMed" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "N", "start_pos": 226, "keywords": [ "ebi", "germline" ], "end_pos": 226, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DYS->NYS)." }, { "sequence_org": "K", "alt_nt": "null", "chr_id": "3", "ref_nt": "G", "chr_pos": "125107692C>", "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" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_mut": "N", "start_pos": 498, "keywords": [ "ebi", "germline" ], "end_pos": 498, "minor_allelic_frequency": "7.99E-4", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KQT->NQT)." }, { "sequence_org": "G", "alt_nt": "null", "chr_id": "3", "ref_nt": "T", "chr_pos": "125187323C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201957526", "id": "rs201957526", "database": "dbSNP" }, { "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201957526", "id": "rs201957526", "database": "1000Genomes" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201957526", "id": "rs201957526", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs201957526#frequency_tab", "id": "rs201957526", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs201957526", "id": "rs201957526", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "S", "start_pos": 70, "keywords": [ "ebi", "germline" ], "end_pos": 70, "minor_allelic_frequency": "5.99E-4", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTG->NTS)." } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": {}, "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" } ], "total": 1, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006884", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" } ], "name": "cell volume homeostasis", "id": "GO:0006884" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" } ], "name": "chloride transmembrane transport", "id": "GO:1902476" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055075", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" } ], "name": "potassium ion homeostasis", "id": "GO:0055075" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" } ], "name": "potassium ion import across plasma membrane", "id": "GO:1990573" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055064", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" } ], "name": "chloride ion homeostasis", "id": "GO:0055064" } ], "total": 5, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "type": "synonym", "resource": "UniProtKB", "name": "CCC9" }, { "url": "https://www.uniprot.org/uniprot/A0AV02", "type": "recommended", "resource": "UniProtKB", "name": "SLC12A8" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AV02", "id": "A0AV02", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC12A8", "id": "SLC12A8", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/84561", "id": "84561", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15595", "id": "15595", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0AV02*", "id": "A0AV02", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR004841", "id": "IPR004841", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:84561", "id": "hsa:84561", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/611316", "id": "611316", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A0AV02", "id": "NX_A0AV02", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/GRGKGPN/", "id": "GRGKGPN", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=792706at2759", "id": "792706at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00324", "id": "PF00324", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A0AV02", "id": "A0AV02", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A0AV02", "id": "PR_A0AV02", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182412", "id": "NP_001182412", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182412.1", "id": "NP_001182412.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV02", "id": "A0AV02", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV02", "id": "A0AV02", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "Yes" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV02", "id": "A0AV02", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "recommended_name": { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV02", "id": "A0AV02", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "recommended_name": { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV02", "id": "A0AV02", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "recommended_name": { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "lung adenocarcinoma", "description": "A lung cancer that derives_from epithelial cells of glandular origin." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV02", "id": "A0AV02", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AV02", "id": "A0AV02", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" } ], "glycosylation": [ { "residue": "Asn", "site_category": "predicted", "end_pos": 221, "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02#ptm_processing", "id": "A0AV02", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "start_pos": 221, "glytoucan_ac": "", "type": "N-linked" } ], "mutagenesis": [], "disease": [], "phosphorylation": [], "mass": { "monoisotopic_mass": 78239.0, "chemical_mass": 78239.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "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_0000458", "uberon": "0000458", "name": "Endocervix" }, "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_0000948", "uberon": "0000948", "name": "Heart" }, "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" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "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_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "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_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "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, "strand": "-", "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#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Cation-chloride cotransporter 9" }, { "url": "https://www.uniprot.org/uniprot/A0AV02#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Solute carrier family 12 member 8" }, { "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" } ] }