{ "uniprot_canonical_ac": "A2AGH6-1", "ptm_annotation": [], "sequence": { "header": "sp|A2AGH6-1|MED12_MOUSE Isoform 1 of Mediator of RNA polymerase II transcription subunit 12 OS=Mus musculus OX=10090 GN=Med12 PE=1 SV=1 CANONICAL=A2AGH6-1", "length": 2190, "sequence": "MAAFGILSYEHRPLKRLRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAKNVNFNPAKISSNFSSIIAEKLRCNTLSDTGRRKSLMNQKDNFWLVTARSQSAINTWFTDLAGTKPLTHLAKKVPIFSKKEEVFGYLAKYTVPVMRAAWLIKMTCAYYAAMSETKVKKKNTADPFTEWTQIITKYLWEQLQKMAEYYRPGPAGSGGCGSTIGPLPHDVEMAIRQWDYNEKLALFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLLLRYSGEFVQSAYLSRRLAYFCTRRLALQLDGVSSHSSHVIAAQSTSSLPTTPAPQPPTSSTPSTPFSDLLMCPQHRPLVFGLSCILQTILLCCPSALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAKLREIEQQIKERGQAVEVRWSFDKCQEATAGFTIGRVLHTLEVLDSHSFERSDFSNSLDSLCNRIFGLGPSKDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVVAKLLEKRQAEIEAERCGESEAADEKGSVASGSLSAPSAPIFQDVLLQFLDTQAPMLTDPRSESERVEFFNLVLLFCELIRHDVFSHNMYTCTLISRGDLAFGAPGPRPPSPFDDPTDDPERKEAEGSSSSKLEDPGLSESMDIDPSSSVLFEDMEKPDFSLFSPTMPCEGKGSPSPEKPDVEKEVKPPAKEKIEGTLGILYDQPRHVQYATHFPIPQEESCSHECNQRLVVLFGVGKQRDDARHAIKKITKDILKVLNRKGTAETDQLAPIVPLNPGDLTFLGGEDGQKRRRNRPEAFPTAEDIFAKFQHLSHYDQHQVTAQVSRNVLEQITSFALGMSYHLPLVQHVQFIFDLMEYSLSISGLIDFAIQLLNELSVVEAELLLKSSDLVGSYTTSLCLCIVAVLRHYHACLILNQDQMAQVFEGLCGVVKHGMNRSDGSSAERCILAYLYDLYTSCSHLKSKFGELFSDFCSKVKNTIYCNVEPSESNMRWAPEFMIDTLENPAAHTFTYTGLGKSLSENPANRYSFVCNALMHVCVGHHDPDRVNDIAILCAELTGYCKSLSAEWLGVLKALCCSSNNGTCGFNDLLCNVDVSDLSFHDSLATFVAILIARQCLLLEDLIRCAAIPSLLNAACSEQDSEPGARLTCRILLHLFKTPQLNPCQSDGNKPTVGIRSSCDRHLLAASQNRIVDGAVFAVLKAVFVLGDAELKGSGFTVPGGTEELPEEEGGGGSSGRRQGGRNISVETASLDVYAKYVLRSICQQEWVGERCLKSLCEDSNDLQDPVLSSAQAQRLMQLICYPHRLLDNEDGENPQRQRIKRILKNLDQWTMRQSSLELQLMIKQTPNTEMNSLLENIAKATIEVFQQSAETGSSSGSTASNMPSSSKTKPVLSSLERSGVWLVAPLIAKLPTSVQGHVLKAAGEELEKGQHLGSSSRKERDRQKQKSMSLLSQQPFLSLVLTCLKGQDEQREGLLASLHSQVHQIVINWRENQYLDDCKPKQLMHEALKLRLNLVGGMFDTVQRSTQQTTEWAQLLLEIIISGTVDMQSNNELFTTVLDMLSVLINGTLAADMSSISQGSMEENKRAYMNLVKKLQKDLGERQSDSLEKVHQLLPLPKQNRDVITCEPQGSLIDTKGNKIAGFDSIFKKEGLQVSTKQKISPWELFEGLKPSTAPLSWAWFGTVRVDRRVARGEEQQRLLLYHTHLRPRPRAYYLEPLPLPPEDEEPPAPALLEPEKKAPEPPKTDKPGAAPPSTEERKKKSTKGKKRSQPATKNEDYGMGPGRSGPYGVTVPPDLLHHANPGSISHLSYRQSSMGLYTQNQPLPAGGPRVDPYRPVRLPMQKLPTRPTYPGVLPTTMSTVMGLEPSSYKTSVYRQQQPTVPQGQRLRQQLQAKIQSQGMLGQSSVHQMTPSSSYGLQTSQGYTSYVSHVGLQQHTGPAGTMVPPSYSSQPYQSTHPSTNPTLVDPTRHLQQRPSGYVHQQAPTYGHGLTSTQRFSHQTLQQTPMMGTMTPLSAQGVQAGVRSTSILPEQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQYHIRQQQQQQQMLRQQQQQQQQQQQQQQQQQQQQQQQQQQQPHQQQQQAAPPQPQPQSQPQFQRQGLQQTQQQQQTAALVRQLQQQLSNTQPQPSTNIFGRY" }, "uniprot_id": "MED12_MOUSE", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12037571", "type": [ "PubMed" ], "id": "12037571" } ], "title": "Transcription coactivator TRAP220 is required for PPAR gamma 2-stimulated adipogenesis.", "journal": "Nature", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "id": "NP_067496.2", "database": "RefSeq" } ], "authors": "Ge K, Guermah M, Yuan CX, Ito M, Wallberg AE, Spiegelman BM, Roeder RG", "date": "2002" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15340084", "type": [ "PubMed" ], "id": "15340084" } ], "title": "Structural and functional organization of TRAP220, the TRAP/mediator subunit that is targeted by nuclear receptors.", "journal": "Molecular and cellular biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "id": "NP_067496.2", "database": "RefSeq" } ], "authors": "Malik S, Guermah M, Yuan CX, Wu W, Yamamura S, Roeder RG", "date": "2004" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23806337", "type": [ "PubMed" ], "id": "23806337" } ], "title": "SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways.", "journal": "Mol. Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "authors": "Chen Y., Park J., Zhang Y., Zhao Y., Peng C., Tan M., Xie Z., Zwaans B.M., Lombard D.B., Dai L., Tishkoff D.X., Skinner M.E.", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24129315", "type": [ "PubMed" ], "id": "24129315" } ], "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Mol. Cell. Proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "authors": "Beausoleil S.A., Wang Y., Zhou J., Comb M.J., Guo A., Lee K.A., Aguiar M., Bedford M.T., Gu H., Jia X., Kornhauser J., Mulhern D., Ren J., Silva J.C., Vemulapalli V., Yang V.", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27096886", "type": [ "PubMed" ], "id": "27096886" } ], "title": "Dual role of Med12 in PRC1-dependent gene repression and ncRNA-mediated transcriptional activation.", "journal": "Cell cycle (Georgetown, Tex.)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "id": "NP_067496.2", "database": "RefSeq" } ], "authors": "Papadopoulou T, Kaymak A, Sayols S, Richly H", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27188461", "type": [ "PubMed" ], "id": "27188461" } ], "title": "Mediator subunit Med12 contributes to the maintenance of neural stem cell identity.", "journal": "BMC developmental biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "id": "NP_067496.2", "database": "RefSeq" } ], "authors": "Kim NH, Livi CB, Yew PR, Boyer TG", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27570068", "type": [ "PubMed" ], "id": "27570068" } ], "title": "MED12 Regulates HSC-Specific Enhancers Independently of Mediator Kinase Activity to Control Hematopoiesis.", "journal": "Cell stem cell", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "id": "NP_067496.2", "database": "RefSeq" } ], "authors": "Aranda-Orgilles B, Saldana-Meyer R, Wang E, Trompouki E, Fassl A, Lau S, Mullenders J, Rocha PP, Raviram R, Guillamot M, Sanchez-Diaz M, Wang K, Kayembe C, Zhang N, Amoasii L, Choudhuri A, Skok JA, Schober M, Reinberg D, Sicinski P, Schrewe H, Tsirigos A, Zon LI, Aifantis I", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/2885744", "type": [ "PubMed" ], "id": "2885744" } ], "title": "DNA sequences homologous to the Drosophila opa repeat are present in murine mRNAs that are differentially expressed in fetuses and adult tissues.", "journal": "Molecular and cellular biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "id": "NP_067496.2", "database": "RefSeq" } ], "authors": "Duboule D, Haenlin M, Galliot B, Mohier E", "date": "1987" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29126187", "type": [ "PubMed" ], "id": "29126187" } ], "title": "Med12 regulates ovarian steroidogenesis, uterine development and maternal effects in the mammalian egg.", "journal": "Biology of reproduction", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "id": "NP_067496.2", "database": "RefSeq" } ], "authors": "Wang X, Mittal P, Castro CA, Rajkovic G, Rajkovic A", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/9702738", "type": [ "PubMed" ], "id": "9702738" } ], "title": "Association of an X-chromosome dodecamer insertional variant allele with mental retardation.", "journal": "Mol. Psychiatry", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "authors": "Palotie A., Ginns E.I., Martin B.M., Lee Y.-H., Damschroder-Williams P., Stubblefield B., Cook E.H., Dea C., King B.H., Philibert R.A., Tengstrom C.", "date": "1998" } ], "uniprot_ac": "A2AGH6", "site_annotation": [ { "end_pos": 1108, "annotation": "n_glycosylation_sequon", "start_pos": 1106 }, { "end_pos": 1270, "annotation": "n_glycosylation_sequon", "start_pos": 1268 }, { "end_pos": 1594, "annotation": "n_glycosylation_sequon", "start_pos": 1592 }, { "end_pos": 74, "annotation": "n_glycosylation_sequon", "start_pos": 72 }, { "end_pos": 963, "annotation": "n_glycosylation_sequon", "start_pos": 961 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6#A2AGH6-1", "isoform_ac": "A2AGH6-1", "locus": { "end_pos": 101274261, "strand": "-", "start_pos": 101297227, "chromosome": "X", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000087948", "id": "ENSMUST00000087948", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000085260", "id": "ENSMUSP00000085260", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2AGH6-1|MED12_MOUSE Isoform 1 of Mediator of RNA polymerase II transcription subunit 12 OS=Mus musculus OX=10090 GN=Med12 PE=1 SV=1 CANONICAL=A2AGH6-1", "length": 2190, "sequence": "MAAFGILSYEHRPLKRLRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAKNVNFNPAKISSNFSSIIAEKLRCNTLSDTGRRKSLMNQKDNFWLVTARSQSAINTWFTDLAGTKPLTHLAKKVPIFSKKEEVFGYLAKYTVPVMRAAWLIKMTCAYYAAMSETKVKKKNTADPFTEWTQIITKYLWEQLQKMAEYYRPGPAGSGGCGSTIGPLPHDVEMAIRQWDYNEKLALFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLLLRYSGEFVQSAYLSRRLAYFCTRRLALQLDGVSSHSSHVIAAQSTSSLPTTPAPQPPTSSTPSTPFSDLLMCPQHRPLVFGLSCILQTILLCCPSALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAKLREIEQQIKERGQAVEVRWSFDKCQEATAGFTIGRVLHTLEVLDSHSFERSDFSNSLDSLCNRIFGLGPSKDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVVAKLLEKRQAEIEAERCGESEAADEKGSVASGSLSAPSAPIFQDVLLQFLDTQAPMLTDPRSESERVEFFNLVLLFCELIRHDVFSHNMYTCTLISRGDLAFGAPGPRPPSPFDDPTDDPERKEAEGSSSSKLEDPGLSESMDIDPSSSVLFEDMEKPDFSLFSPTMPCEGKGSPSPEKPDVEKEVKPPAKEKIEGTLGILYDQPRHVQYATHFPIPQEESCSHECNQRLVVLFGVGKQRDDARHAIKKITKDILKVLNRKGTAETDQLAPIVPLNPGDLTFLGGEDGQKRRRNRPEAFPTAEDIFAKFQHLSHYDQHQVTAQVSRNVLEQITSFALGMSYHLPLVQHVQFIFDLMEYSLSISGLIDFAIQLLNELSVVEAELLLKSSDLVGSYTTSLCLCIVAVLRHYHACLILNQDQMAQVFEGLCGVVKHGMNRSDGSSAERCILAYLYDLYTSCSHLKSKFGELFSDFCSKVKNTIYCNVEPSESNMRWAPEFMIDTLENPAAHTFTYTGLGKSLSENPANRYSFVCNALMHVCVGHHDPDRVNDIAILCAELTGYCKSLSAEWLGVLKALCCSSNNGTCGFNDLLCNVDVSDLSFHDSLATFVAILIARQCLLLEDLIRCAAIPSLLNAACSEQDSEPGARLTCRILLHLFKTPQLNPCQSDGNKPTVGIRSSCDRHLLAASQNRIVDGAVFAVLKAVFVLGDAELKGSGFTVPGGTEELPEEEGGGGSSGRRQGGRNISVETASLDVYAKYVLRSICQQEWVGERCLKSLCEDSNDLQDPVLSSAQAQRLMQLICYPHRLLDNEDGENPQRQRIKRILKNLDQWTMRQSSLELQLMIKQTPNTEMNSLLENIAKATIEVFQQSAETGSSSGSTASNMPSSSKTKPVLSSLERSGVWLVAPLIAKLPTSVQGHVLKAAGEELEKGQHLGSSSRKERDRQKQKSMSLLSQQPFLSLVLTCLKGQDEQREGLLASLHSQVHQIVINWRENQYLDDCKPKQLMHEALKLRLNLVGGMFDTVQRSTQQTTEWAQLLLEIIISGTVDMQSNNELFTTVLDMLSVLINGTLAADMSSISQGSMEENKRAYMNLVKKLQKDLGERQSDSLEKVHQLLPLPKQNRDVITCEPQGSLIDTKGNKIAGFDSIFKKEGLQVSTKQKISPWELFEGLKPSTAPLSWAWFGTVRVDRRVARGEEQQRLLLYHTHLRPRPRAYYLEPLPLPPEDEEPPAPALLEPEKKAPEPPKTDKPGAAPPSTEERKKKSTKGKKRSQPATKNEDYGMGPGRSGPYGVTVPPDLLHHANPGSISHLSYRQSSMGLYTQNQPLPAGGPRVDPYRPVRLPMQKLPTRPTYPGVLPTTMSTVMGLEPSSYKTSVYRQQQPTVPQGQRLRQQLQAKIQSQGMLGQSSVHQMTPSSSYGLQTSQGYTSYVSHVGLQQHTGPAGTMVPPSYSSQPYQSTHPSTNPTLVDPTRHLQQRPSGYVHQQAPTYGHGLTSTQRFSHQTLQQTPMMGTMTPLSAQGVQAGVRSTSILPEQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQYHIRQQQQQQQMLRQQQQQQQQQQQQQQQQQQQQQQQQQQQPHQQQQQAAPPQPQPQSQPQFQRQGLQQTQQQQQTAALVRQLQQQLSNTQPQPSTNIFGRY" } }, { "url": "https://www.uniprot.org/uniprot/A2AGH6#A2AGH6-2", "isoform_ac": "A2AGH6-2", "locus": { "end_pos": 101274261, "strand": "-", "start_pos": 101297227, "chromosome": "X", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000087956", "id": "ENSMUST00000087956", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000085269", "id": "ENSMUSP00000085269", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2AGH6-2|MED12_MOUSE Isoform 2 of Mediator of RNA polymerase II transcription subunit 12 OS=Mus musculus OX=10090 GN=Med12 PE=1 SV=1 CANONICAL=A2AGH6-1", "length": 2169, "sequence": "MAAFGILSYEHRPLKRLRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAKNVNFNPAKISSNFSSIIAEKLRCNTLSDTGRRKSLMNQKDNFWLVTARSQSAINTWFTDLAGTKPLTHLAKKVPIFSKKEEVFGYLAKYTVPVMRAAWLIKMTCAYYAAMSETKVKKKNTADPFTEWTQIITKYLWEQLQKMAEYYRPGPAGSGGCGSTIGPLPHDVEMAIRQWDYNEKLALFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLLLRYSGEFVQSAYLSRRLAYFCTRRLALQLDGVSSHSSHVIAAQSTSSLPTTPAPQPPTSSTPSTPFSDLLMCPQHRPLVFGLSCILQTILLCCPSALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAKLREIEQQIKERGQAVEVRWSFDKCQEATAGFTIGRVLHTLEVLDSHSFERSDFSNSLDSLCNRIFGLGPSKDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVVAKLLEKRQAEIEAERCGESEAADEKGSVASGSLSAPSAPIFQDVLLQFLDTQAPMLTDPRSESERVEFFNLVLLFCELIRHDVFSHNMYTCTLISRGDLAFGAPGPRPPSPFDDPTDDPERKEAEGSSSSKLEDPGLSESMDIDPSSSVLFEDMEKPDFSLFSPTMPCEGKGSPSPEKPDVEKEVKPPAKEKIEGTLGILYDQPRHVQYATHFPIPQEESCSHECNQRLVVLFGVGKQRDDARHAIKKITKDILKVLNRKGTAETDQLAPIVPLNPGDLTFLGGEDGQKRRRNRPEAFPTAEDIFAKFQHLSHYDQHQVTAQVSRNVLEQITSFALGMSYHLPLVQHVQFIFDLMEYSLSISGLIDFAIQLLNELSVVEAELLLKSSDLVGSYTTSLCLCIVAVLRHYHACLILNQDQMAQVFEGLCGVVKHGMNRSDGSSAERCILAYLYDLYTSCSHLKSKFGELFSDFCSKVKNTIYCNVEPSESNMRWAPEFMIDTLENPAAHTFTYTGLGKSLSENPANRYSFVCNALMHVCVGHHDPDRVNDIAILCAELTGYCKSLSAEWLGVLKALCCSSNNGTCGFNDLLCNVDVSDLSFHDSLATFVAILIARQCLLLEDLIRCAAIPSLLNAACSEQDSEPGARLTCRILLHLFKTPQLNPCQSDGNKPTVGIRSSCDRHLLAASQNRIVDGAVFAVLKAVFVLGDAELKGSGFTVPGGTEELPEEEGGGGSSGRRQGGRNISVETASLDVYAKYVLRSICQQEWVGERCLKSLCEDSNDLQDPVLSSAQAQRLMQLICYPHRLLDNEDGENPQRQRIKRILKNLDQWTMRQSSLELQLMIKQTPNTEMNSLLENIAKATIEVFQQSAETGSSSGSTASNMPSSSKTKPVLSSLERSGVWLVAPLIAKLPTSVQGHVLKAAGEELEKGQHLGSSSRKERDRQKQKSMSLLSQQPFLSLVLTCLKGQDEQREGLLASLHSQVHQIVINWRENQYLDDCKPKQLMHEALKLRLNLVGGMFDTVQRSTQQTTEWAQLLLEIIISGTVDMQSNNELFTTVLDMLSVLINGTLAADMSSISQGSMEENKRAYMNLVKKLQKDLGERQSDSLEKVHQLLPLPKQNRDVITCEPQGSLIDTKGNKIAGFDSIFKKEGLQVSTKQKISPWELFEGLKPSTAPLSWAWFGTVRVDRRVARGEEQQRLLLYHTHLRPRPRAYYLEPLPLPPEDEEPPAPALLEPEKKAPEPPKTDKPGAAPPSTEERKKKSTKGKKRSQPATKNEDYGMGPGRSGPYGVTVPPDLLHHANPGSISHLSYRQSSMGLYTQNQPLPAGGPRVDPYRPVRLPMQKLPTRPTYPGVLPTTMSTVMGLEPSSYKTSVYRQQQPTVPQGQRLRQQLQQSQGMLGQSSVHQMTPSSSYGLQTSQLSSPSLQGYTSYVSHVGLQQHTGPADPTRHLQQRPSGYVHQQAPTYGHGLTSTQRFSHQTLQQTPMMGTMTPLSAQGVQAGVRSTSILPEQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQYHIRQQQQQQQMLRQQQQQQQQQQQQQQQQQQQQQQQQQQQPHQQQQQAAPPQPQPQSQPQFQRQGLQQTQQQQQTAALVRQLQQQLSNTQPQPSTNIFGRY" } }, { "url": "https://www.uniprot.org/uniprot/A2AGH6#A2AGH6-3", "isoform_ac": "A2AGH6-3", "locus": {}, "sequence": { "header": "sp|A2AGH6-3|MED12_MOUSE Isoform 3 of Mediator of RNA polymerase II transcription subunit 12 OS=Mus musculus OX=10090 GN=Med12 PE=1 SV=1 CANONICAL=A2AGH6-1", "length": 866, "sequence": "MQLICYPHRLLDNEDGENPQRQRIKRILKNLDQWTMRQSSLELQLMIKQTPNTEMNSLLENIAKATIEVFQQSAETGSSSGSTASNMPSSSKTKPVLSSLERSGVWLVAPLIAKLPTSVQGHVLKAAGEELEKGQHLGSSSRKERDRQKQKSMSLLSQQPFLSLVLTCLKGQDEQREGLLASLHSQVHQIVINWRENQYLDDCKPKQLMHEALKLRLNLVGGMFDTVQRSTQQTTEWAQLLLEIIISGTVDMQSNNELFTTVLDMLSVLINGTLAADMSSISQGSMEENKRAYMNLVKKLQKDLGERQSDSLEKVHQLLPLPKQNRDVITCEPQGSLIDTKGNKIAGFDSIFKKEGLQVSTKQKISPWELFEGLKPSTAPLSWAWFGTVRVDRRVARGEEQQRLLLYHTHLRPRPRAYYLEPLPLPPEDEEPPAPALLEPEKKAPEPPKTDKPGAAPPSTEERKKKSTKGKKRSQPATKNEDYGMGPGRSGPYGVTVPPDLLHHANPGSISHLSYRQSSMGLYTQNQPLPAGGPRVDPYRPVRLPMQKLPTRPTYPGVLPTTMSTVMGLEPSSYKTSVYRQQQPTVPQGQRLRQQLQQSQGMLGQSSVHQMTPSSSYGLQTSQGYTSYVSHVGLQQHTGPAGTMVPPSYSSQPYQSTHPSTNPTLVDPTRHLQQRPSGYVHQQAPTYGHGLTSTQRFSHQTLQQTPMMGTMTPLSAQGVQAGVRSTSILPEQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQYHIRQQQQQQQMLRQQQQQQQQQQQQQQQQQQQQQQQQQQQPHQQQQQAAPPQPQPQSQPQFQRQGLQQTQQQQQTAALVRQLQQQLSNTQPQPSTNIFGRY" } }, { "url": "https://www.uniprot.org/uniprot/A2AGH6#A2AGH8-1", "isoform_ac": "A2AGH8-1", "locus": { "end_pos": 101274261, "strand": "-", "start_pos": 101297227, "chromosome": "X", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000117706", "id": "ENSMUST00000117706", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000112852", "id": "ENSMUSP00000112852", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A2AGH8-1|MED12_MOUSE Computationally mapped isoform of Mediator of RNA polymerase II transcription subunit 12 OS=Mus musculus OX=10090 GN=Med12 PE=1 SV=1 CANONICAL=A2AGH6-1", "length": 2157, "sequence": "MAAFGILSYEHRPLKRLRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAKNVNFNPAKISSNFSSIIAEKLRCNTLSDTGRRKSLMNQKDNFWLVTARSQSAINTWFTDLAGTKPLTHLAKKVPIFSKKEEVFGYLAKYTVPVMRAAWLIKMTCAYYAAMSETKVKKKNTADPFTEWTQIITKYLWEQLQKMAEYYRPGPAGSGGCGSTIGPLPHDVEMAIRQWDYNEKLALFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLLLRYSGEFVQSAYLSRRLAYFCTRRLALQLDGVSSHSSHVIAAQSTSSLPTTPAPQPPTSSTPSTPFSDLLMCPQHRPLVFGLSCILQTILLCCPSALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAKLREIEQQIKERGQAVEVRWSFDKCQEATAGFTIGRVLHTLEVLDSHSFERSDFSNSLDSLCNRIFGLGPSKDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVVAKLLEKRQAEIEAERCGESEAADEKGSVASGSLSAPSAPIFQDVLLQFLDTQAPMLTDPRSESERVEFFNLVLLFCELIRHDVFSHNMYTCTLISRGDLAFGAPGPRPPSPFDDPTDDPERKEAEGSSSSKLEDPGLSESMDIDPSSSVLFEDMEKPDFSLFSPTMPCEGKGSPSPEKPDVEKEVKPPAKEKIEGTLGILYDQPRHVQYATHFPIPQEESCSHECNQRLVVLFGVGKQRDDARHAIKKITKDILKVLNRKGTAETDQLAPIVPLNPGDLTFLGGEDGQKRRRNRPEAFPTAEDIFAKFQHLSHYDQHQVTAQVSRNVLEQITSFALGMSYHLPLVQHVQFIFDLMEYSLSISGLIDFAIQLLNELSVVEAELLLKSSDLVGSYTTSLCLCIVAVLRHYHACLILNQDQMAQVFEGLCGVVKHGMNRSDGSSAERCILAYLYDLYTSCSHLKSKFGELFSDFCSKVKNTIYCNVEPSESNMRWAPEFMIDTLENPAAHTFTYTGLGKSLSENPANRYSFVCNALMHVCVGHHDPDRVNDIAILCAELTGYCKSLSAEWLGVLKALCCSSNNGTCGFNDLLCNVDVSDLSFHDSLATFVAILIARQCLLLEDLIRCAAIPSLLNAACSEQDSEPGARLTCRILLHLFKTPQLNPCQSDGNKPTVGIRSSCDRHLLAASQNRIVDGAVFAVLKAVFVLGDAELKGSGFTVPGGTEELPEEEGGGGSSGRRQGGRNISVETASLDVYAKYVLRSICQQEWVGERCLKSLCEDSNDLQDPVLSSAQAQRLMQLICYPHRLLDNEDGENPQRQRIKRILKNLDQWTMRQSSLELQLMIKQTPNTEMNSLLENIAKATIEVFQQSAETGSSSGSTASNMPSSSKTKPVLSSLERSGVWLVAPLIAKLPTSVQGHVLKAAGEELEKGQHLGSSSRKERDRQKQKSMSLLSQQPFLSLVLTCLKGQDEQREGLLASLHSQVHQIVINWRENQYLDDCKPKQLMHEALKLRLNLVGGMFDTVQRSTQQTTEWAQLLLEIIISGTVDMQSNNELFTTVLDMLSVLINGTLAADMSSISQGSMEENKRAYMNLVKKLQKDLGERQSDSLEKVHQLLPLPKQNRDVITCEPQGSLIDTKGNKIAGFDSIFKKEGLQVSTKQKISPWELFEGLKPSTAPLSWAWFGTVRVDRRVARGEEQQRLLLYHTHLRPRPRAYYLEPLPLPPEDEEPPAPALLEPEKKAPEPPKTDKPGAAPPSTEERKKKSTKGKKRSQPATKNEDYGMGPGRSGPYGVTVPPDLLHHANPGSISHLSYRQSSMGLYTQNQPLPAGGPRVDPYRPVRLPMQKLPTRPTYPGVLPTTMSTVMGLEPSSYKTSVYRQQQPTVPQGQRLRQQLQAKIQSQGMLGQSSVHQMTPSSSYGLQTSQGYTSYVSHVGLQQHTGPADPTRHLQQRPSGYVHQQAPTYGHGLTSTQRFSHQTLQQTPMMGTMTPLSAQGVQAGVRSTSILPEQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQYHIRQQQQQQQMLRQQQQQQQQQQQQQQQQQQQPHQQQQQAAPPQPQPQSQPQFQRQGLQQTQQQQQTAALVRQLQQQLSNTQPQPSTNIFGRY" } }, { "url": "https://www.uniprot.org/uniprot/A2AGH6#A2AGH9-1", "isoform_ac": "A2AGH9-1", "locus": { "end_pos": 101274261, "strand": "-", "start_pos": 101297227, "chromosome": "X", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000117203", "id": "ENSMUST00000117203", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000112729", "id": "ENSMUSP00000112729", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A2AGH9-1|MED12_MOUSE Computationally mapped isoform of Mediator of RNA polymerase II transcription subunit 12 OS=Mus musculus OX=10090 GN=Med12 PE=1 SV=1 CANONICAL=A2AGH6-1", "length": 2182, "sequence": "MAAFGILSYEHRPLKRLRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAKNVNFNPAKISSNFSSIIAEKLRCNTLSDTGRRKSLMNQKDNFWLVTARSQSAINTWFTDLAGTKPLTHLAKKVPIFSKKEEVFGYLAKYTVPVMRAAWLIKMTCAYYAAMSETKVKKKNTADPFTEWTQIITKYLWEQLQKMAEYYRPGPAGSGGCGSTIGPLPHDVEMAIRQWDYNEKLALFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLLLRYSGEFVQSAYLSRRLAYFCTRRLALQLDGVSSHSSHVIAAQSTSSLPTTPAPQPPTSSTPSTPFSDLLMCPQHRPLVFGLSCILQTILLCCPSALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAKLREIEQQIKERGQAVEVRWSFDKCQEATAGFTIGRVLHTLEVLDSHSFERSDFSNSLDSLCNRIFGLGPSKDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVVAKLLEKRQAEIEAERCGESEAADEKGSVASGSLSAPSAPIFQDVLLQFLDTQAPMLTDPRSESERVEFFNLVLLFCELIRHDVFSHNMYTCTLISRGDLAFGAPGPRPPSPFDDPTDDPERKEAEGSSSSKLEDPGLSESMDIDPSSSVLFEDMEKPDFSLFSPTMPCEGKGSPSPEKPDVEKEVKPPAKEKIEGTLGILYDQPRHVQYATHFPIPQEESCSHECNQRLVVLFGVGKQRDDARHAIKKITKDILKVLNRKGTAETDQLAPIVPLNPGDLTFLGGEDGQKRRRNRPEAFPTAEDIFAKFQHLSHYDQHQVTAQVSRNVLEQITSFALGMSYHLPLVQHVQFIFDLMEYSLSISGLIDFAIQLLNELSVVEAELLLKSSDLVGSYTTSLCLCIVAVLRHYHACLILNQDQMAQVFEGLCGVVKHGMNRSDGSSAERCILAYLYDLYTSCSHLKSKFGELFSDFCSKVKNTIYCNVEPSESNMRWAPEFMIDTLENPAAHTFTYTGLGKSLSENPANRYSFVCNALMHVCVGHHDPDRVNDIAILCAELTGYCKSLSAEWLGVLKALCCSSNNGTCGFNDLLCNVDVSDLSFHDSLATFVAILIARQCLLLEDLIRCAAIPSLLNAACSEQDSEPGARLTCRILLHLFKTPQLNPCQSDGNKPTVGIRSSCDRHLLAASQNRIVDGAVFAVLKAVFVLGDAELKGSGFTVPGGTEELPEEEGGGGSSGRRQGGRNISVETASLDVYAKYVLRSICQQEWVGERCLKSLCEDSNDLQDPVLSSAQAQRLMQLICYPHRLLDNEDGENPQRQRIKRILKNLDQWTMRQSSLELQLMIKQTPNTEMNSLLENIAKATIEVFQQSAETGSSSGSTASNMPSSSKTKPVLSSLERSGVWLVAPLIAKLPTSVQGHVLKAAGEELEKGQHLGSSSRKERDRQKQKSMSLLSQQPFLSLVLTCLKGQDEQREGLLASLHSQVHQIVINWRENQYLDDCKPKQLMHEALKLRLNLVGGMFDTVQRSTQQTTEWAQLLLEIIISGTVDMQSNNELFTTVLDMLSVLINGTLAADMSSISQGSMEENKRAYMNLVKKLQKDLGERQSDSLEKVHQLLPLPKQNRDVITCEPQGSLIDTKGNKIAGFDSIFKKEGLQVSTKQKISPWELFEGLKPSTAPLSWAWFGTVRVDRRVARGEEQQRLLLYHTHLRPRPRAYYLEPLPLPPEDEEPPAPALLEPEKKAPEPPKTDKPGAAPPSTEERKKKSTKGKKRSQPATKNEDYGMGPGRSGPYGVTVPPDLLHHANPGSISHLSYRQSSMGLYTQNQPLPAGGPRVDPYRPVRLPMQKLPTRPTYPGVLPTTMSTVMGLEPSSYKTSVYRQQQPTVPQGQRLRQQLQAKIQSQGMLGQSSVHQMTPSSSYGLQTSQGYTSYVSHVGLQQHTGPAGTMVPPSYSSQPYQSTHPSTNPTLVDPTRHLQQRPSGYVHQQAPTYGHGLTSTQRFSHQTLQQTPMMGTMTPLSAQGVQAGVRSTSILPEQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQYHIRQQQQQQQMLRQQQQQQQQQQQQQQQQQQQPHQQQQQAAPPQPQPQSQPQFQRQGLQQTQQQQQTAALVRQLQQQLSNTQPQPSTNIFGRY" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:59024", "resource": "KEGG Pathway", "id": "mmu:59024", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-212436", "resource": "Reactome", "id": "R-MMU-212436", "name": "Generic Transcription Pathway" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "annotation": "Alterations in MED12-dependent enhancer regulation may control both physiological and malignant hematopoiesis.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "id": "NP_067496.2", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2AGH6#function", "annotation": "Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6#function", "id": "A2AGH6", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "annotation": "Med12 is critically important in reproductive tract development, and Med12 loss of function does not cause tumorigenesis in reproductive tissues.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "id": "NP_067496.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "annotation": "Study provide evidence that Med12 regulates neural stem cell gene expression programs linked to adhesion and cell cycle progression but suppresses its adhesion by repressing the expression of cell adhesion molecules. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "id": "NP_067496.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "annotation": "The data reveal how the interplay between PRC1, ncRNA and Mediator complexes controls pluripotency and cellular differentiation.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "id": "NP_067496.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "A0A096MKF8-1", "protein_name": "Mediator complex subunit 12", "sequence": { "length": 2190, "sequence": "MAAFGILSYEHRPLKRLRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAKNVNFNPAKISSNFSSIIAEKLRCNTLSDTGRRKSLMNQKDNFWLVTARSQSAINTWFTDLAGTKPLTHLAKKVPIFSKKEEVFGYLAKYTVPVMRAAWLIKMTCAYYAAMSETKVKKKNTADPFTEWTQIITKYLWEQLQKMAEYYRPGPAGSGVCGSAIGPLPHDVEMAIRQWDYNEKLALFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLLLRYSGEFVQSAYLSRRLAYFCTRRLALQLDGVNSHSSHVISAQSTSSLPTTPAPQPPTSNTPSTPFSDLLMCPQHRPLVFGLSCILQTILLCCPSALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAKLREIEQQIKERGQAVEVRWSFDKCQEATAGFTIGRVLHTLEVLDSHSFERSDFSNSLDSLCNRIFGLGPSKDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVVAKLLEKRQAEIEAERCGESEAADEKGSVASGSLSAPSAPIFQDVLLQFLDTQAPMLTDPRSESERVEFFNLVLLFCELIRHDVFSHNMYTCTLISRGDLAFGTPGPRPPSPFDDPADDPERKEAEGSSSSKLEDPGLSESMDIDPSSSVLFEDMEKPDFSLFSPTMPCEGKGSPSPEKPDVEKDVKPPPKEKIEGTLGILYDQPRHVQYATHFPIPQEESCSHECNQRLVVLFGVGKQRDDARHAIKKITKDILKVLNRKGTAETDQLAPIVPLNPGDLTFLGGEDGQKRRRNRPEAFPTAEDIFAKFQHLSHYDQHQVTAQVSRNVLEQITSFALGMSYHLPLVQHVQFVFDLMEYSLSISGLIDFAIQLLNELSVVEAELLLKSSDLVGSYTTSLCLCIVAVLRHYHACLILNQDQMAQVFEGLCGVVKHGMNRSDGSSAERCILAYLYDLYTSCSHLKSKFGELFSDFCSKVKNTIYCNVEPSESNMRWAPEFMIDTLENPAAHTFTYTGLGKSLSENPANRYSFVCNALMHVCVGHHDPDRVNDIAILCAELTGYCKSLSAEWLGVLKALCCSSNNGTCGFNDLLCNVDVSDLSFHDSLATFVAILIARQCLLLEDLIRCAAIPSLLNAACSEQDSEPGARLTCRILLHLFKTPQLNPCQSDGNKPTVGIRSSCDRHLLAASQNRIVDGAVFAVLKAVFVLGDAELKGSGFTVPGGTEELPEEEGGGGSSGRRQGGRNISVETASLDVYAKYVLRSICQQEWVGERCLKSLCEDSNDLQDPVLSSAQAQRLMQLICYPHRLLDSEDGENPQRQRIKRILKNLDQWTMRQSSLELQLMIKQTPNTEMNSLLENIAKATIEVFQQSAETGSSSGSTASNMPSSSKAKPVLSSLERSGVWLVAPLIAKLPTSVQGHVLKAAGEELEKGQHLGSSSRKERDRQKQKSMSLLSQQPFLSLVLTCLKGQDEQREGLLASLHSQVHQIVINWRENQYLDDCKPKQLMHEALKLRLNLVGGMFDTVQRSTQQTTEWAQLLLEIIISGTVDMQSNNELFTTVLDMLSVLINGTLAADMSSISQGSMEENKRAYMNLVKKLQKDLGERQSDSLEKVHQLLPLPKQNRDVITCEPQGSLIDTKGNKIAGFDSIFKKEGLQVSTKQKISPWELFEGLKPSTAPLSWAWFGTVRVDRRVARGEEQQRLLLYHTHLRPRPRAYYLEPLPLPPEDEEPPAPALLEPEKKAPEPPKTDKPGTAPPSTEERKKKSTKGKKRSQPATKSEDYGMGPGRSGPYGVTVPPDLLHHANPGSISHLSYRQSSMGLYTQNQPLPAGGPRVDPYRPVRLPMQKLPTRPTYPGVLPTTMTTVMGLEPSSYKTSVYRQQQPTVPQGQRLRQQLQAKIQSQGMLGQSSVHQMTPSSSYGLQSSQGYTSYVSHVGLQQHTGPAGTMVPPSYSSQPYQSTHPSTNPTLVDPTRHLQQRPSGYVHQQAPTYGHGLTSTQRFSHQTLQQTPMMGTMTPLSAQGVQAGVRSTSILPEQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQYHIRQQQQQQQILRQQQQQQQQQQQQQQQQQQQQQQQPQQQQPHQQQQQAAPPQPQPQSQPQFQRQGLQQTQQQQQTAALVRQLQQQLSNTQPQPSTNIFGRY" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/68441", "id": "68441", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Med12", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q93074-1", "protein_name": "Mediator of RNA polymerase II transcription subunit 12", "sequence": { "length": 2177, "sequence": "MAAFGILSYEHRPLKRPRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAKNVSFNPAKISSNFSSIIAEKLRCNTLPDTGRRKPQVNQKDNFWLVTARSQSAINTWFTDLAGTKPLTQLAKKVPIFSKKEEVFGYLAKYTVPVMRAAWLIKMTCAYYAAISETKVKKRHVDPFMEWTQIITKYLWEQLQKMAEYYRPGPAGSGGCGSTIGPLPHDVEVAIRQWDYTEKLAMFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLLLRYSGEFVQSAYLSRRLAYFCTRRLALQLDGVSSHSSHVISAQSTSTLPTTPAPQPPTSSTPSTPFSDLLMCPQHRPLVFGLSCILQTILLCCPSALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAKLREIEQQIKERGQAVEVRWSFDKCQEATAGFTIGRVLHTLEVLDSHSFERSDFSNSLDSLCNRIFGLGPSKDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVVAKLLEKRQAEIEAERCGESEAADEKGSIASGSLSAPSAPIFQDVLLQFLDTQAPMLTDPRSESERVEFFNLVLLFCELIRHDVFSHNMYTCTLISRGDLAFGAPGPRPPSPFDDPADDPEHKEAEGSSSSKLEDPGLSESMDIDPSSSVLFEDMEKPDFSLFSPTMPCEGKGSPSPEKPDVEKEVKPPPKEKIEGTLGVLYDQPRHVQYATHFPIPQEESCSHECNQRLVVLFGVGKQRDDARHAIKKITKDILKVLNRKGTAETDQLAPIVPLNPGDLTFLGGEDGQKRRRNRPEAFPTAEDIFAKFQHLSHYDQHQVTAQVSRNVLEQITSFALGMSYHLPLVQHVQFIFDLMEYSLSISGLIDFAIQLLNELSVVEAELLLKSSDLVGSYTTSLCLCIVAVLRHYHACLILNQDQMAQVFEGLCGVVKHGMNRSDGSSAERCILAYLYDLYTSCSHLKNKFGELFSDFCSKVKNTIYCNVEPSESNMRWAPEFMIDTLENPAAHTFTYTGLGKSLSENPANRYSFVCNALMHVCVGHHDPDRVNDIAILCAELTGYCKSLSAEWLGVLKALCCSSNNGTCGFNDLLCNVDVSDLSFHDSLATFVAILIARQCLLLEDLIRCAAIPSLLNAACSEQDSEPGARLTCRILLHLFKTPQLNPCQSDGNKPTVGIRSSCDRHLLAASQNRIVDGAVFAVLKAVFVLGDAELKGSGFTVTGGTEELPEEEGGGGSGGRRQGGRNISVETASLDVYAKYVLRSICQQEWVGERCLKSLCEDSNDLQDPVLSSAQAQRLMQLICYPHRLLDNEDGENPQRQRIKRILQNLDQWTMRQSSLELQLMIKQTPNNEMNSLLENIAKATIEVFQQSAETGSSSGSTASNMPSSSKTKPVLSSLERSGVWLVAPLIAKLPTSVQGHVLKAAGEELEKGQHLGSSSRKERDRQKQKSMSLLSQQPFLSLVLTCLKGQDEQREGLLTSLYSQVHQIVNNWRDDQYLDDCKPKQLMHEALKLRLNLVGGMFDTVQRSTQQTTEWAMLLLEIIISGTVDMQSNNELFTTVLDMLSVLINGTLAADMSSISQGSMEENKRAYMNLAKKLQKELGERQSDSLEKVRQLLPLPKQTRDVITCEPQGSLIDTKGNKIAGFDSIFKKEGLQVSTKQKISPWDLFEGLKPSAPLSWGWFGTVRVDRRVARGEEQQRLLLYHTHLRPRPRAYYLEPLPLPPEDEEPPAPTLLEPEKKAPEPPKTDKPGAAPPSTEERKKKSTKGKKRSQPATKTEDYGMGPGRSGPYGVTVPPDLLHHPNPGSITHLNYRQGSIGLYTQNQPLPAGGPRVDPYRPVRLPMQKLPTRPTYPGVLPTTMTGVMGLEPSSYKTSVYRQQQPAVPQGQRLRQQLQQSQGMLGQSSVHQMTPSSSYGLQTSQGYTPYVSHVGLQQHTGPAGTMVPPSYSSQPYQSTHPSTNPTLVDPTRHLQQRPSGYVHQQAPTYGHGLTSTQRFSHQTLQQTPMISTMTPMSAQGVQAGVRSTAILPEQQQQQQQQQQQQQQQQQQQQQQQQQQYHIRQQQQQQILRQQQQQQQQQQQQQQQQQQQQQQQQQQHQQQQQQQAAPPQPQPQSQPQFQRQGLQQTQQQQQTAALVRQLQQQLSNTQPQPSTNIFGRY" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/68441", "id": "68441", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "MED12", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "ac": "NP_067496.2", "name": "mediator of RNA polymerase II transcription subunit 12", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "pmid": "20720539", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "chromatin binding", "id": "GO:0003682" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "pmid": "23575864", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "transcription coactivator activity", "id": "GO:0003713" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008134", "pmid": "23575864", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "transcription factor binding", "id": "GO:0008134" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "pmid": "23575864", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "protein domain specific binding", "id": "GO:0019904" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008022", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "protein C-terminus binding", "id": "GO:0008022" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "ubiquitin protein ligase activity", "id": "GO:0061630" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "beta-catenin binding", "id": "GO:0008013" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046966", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "thyroid hormone receptor binding", "id": "GO:0046966" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "transcription coregulator activity", "id": "GO:0003712" } ], "total": 10, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016592", "pmid": "15340084", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "mediator complex", "id": "GO:0016592" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016592", "pmid": "20508642", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "mediator complex", "id": "GO:0016592" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "nucleoplasm", "id": "GO:0005654" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "ubiquitin ligase complex", "id": "GO:0000151" } ], "total": 5, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "pmid": "20630950", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "heart development", "id": "GO:0007507" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "pmid": "20589884", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "spinal cord development", "id": "GO:0021510" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "pmid": "20630950", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "neural tube closure", "id": "GO:0001843" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "pmid": "20589884", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "neural tube development", "id": "GO:0021915" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "pmid": "20589884", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "somitogenesis", "id": "GO:0001756" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "pmid": "20720539", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "stem cell population maintenance", "id": "GO:0019827" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "pmid": "20630950", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "canonical Wnt signaling pathway", "id": "GO:0060070" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060071", "pmid": "20630950", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "Wnt signaling pathway, planar cell polarity pathway", "id": "GO:0060071" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "pmid": "20589884", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "endoderm development", "id": "GO:0007492" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014003", "pmid": "23575864", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "oligodendrocyte development", "id": "GO:0014003" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "pmid": "20589884", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "embryonic organ development", "id": "GO:0048568" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990403", "pmid": "20589884", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "embryonic brain development", "id": "GO:1990403" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "pmid": "23575864", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "Schwann cell development", "id": "GO:0014044" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048702", "pmid": "20589884", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "embryonic neurocranium morphogenesis", "id": "GO:0048702" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "pmid": "20589884", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "post-anal tail morphogenesis", "id": "GO:0036342" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090245", "pmid": "20630950", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "axis elongation involved in somitogenesis", "id": "GO:0090245" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "positive regulation of transcription initiation from RNA polymerase II promoter", "id": "GO:0060261" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "positive regulation of transcription, DNA-templated", "id": "GO:0045893" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "name": "protein ubiquitination", "id": "GO:0016567" } ], "total": 21, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AGH6", "type": "synonym", "resource": "RefSeq", "name": "230kDa; M; Mopa; OP; OPA-1; Tnrc; Tnrc11; Trap; Trap230" }, { "url": "https://www.uniprot.org/uniprot/A2AGH6", "type": "synonym", "resource": "UniProtKB", "name": "Kiaa0192" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AGH6", "type": "synonym", "resource": "RefSeq", "name": "Med12" }, { "url": "https://www.uniprot.org/uniprot/A2AGH6", "type": "recommended", "resource": "UniProtKB", "name": "Med12" }, { "url": "https://www.uniprot.org/uniprot/A2AGH6", "type": "synonym", "resource": "UniProtKB", "name": "Mopa" }, { "url": "https://www.uniprot.org/uniprot/A2AGH6", "type": "synonym", "resource": "UniProtKB", "name": "Tnrc11" }, { "url": "https://www.uniprot.org/uniprot/A2AGH6", "type": "synonym", "resource": "UniProtKB", "name": "Trap230" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000079487", "id": "ENSMUSG00000079487", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/59024", "id": "59024", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2AGH6*", "id": "A2AGH6", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019035", "id": "IPR019035", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR021989", "id": "IPR021989", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR021990", "id": "IPR021990", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:59024", "id": "mmu:59024", "database": "KEGG Pathway" }, { "url": "http://www.informatics.jax.org/marker/MGI:1926212", "id": "1926212", "database": "MGI" }, { "url": "http://pfam.xfam.org/family/PF09497", "id": "PF09497", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF12144", "id": "PF12144", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF12145", "id": "PF12145", "database": "Pfam" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2AGH6", "id": "PR_A2AGH6", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-212436", "id": "R-MMU-212436", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067496.2", "id": "NP_067496.2", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0010654", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "resource": "MONDO", "name": "Partington syndrome", "description": "" }, { "id": "MONDO:0010654", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "resource": "MONDO", "name": "MRXS1", "description": "" }, { "id": "MONDO:0010654", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "resource": "MONDO", "name": "intellectual disability-dystonic movements-ataxia-seizures syndrome", "description": "" }, { "id": "MONDO:0010654", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "resource": "MONDO", "name": "mental retardation, X-linked, syndromic 1", "description": "" }, { "id": "MONDO:0010654", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "resource": "MONDO", "name": "X-linked Russell-Silver syndrome", "description": "" }, { "id": "MONDO:0010654", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "resource": "MONDO", "name": "mental retardation, X-linked, with dystonic movements, ataxia, and seizures", "description": "" }, { "id": "MONDO:0010654", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "resource": "MONDO", "name": "intellectual disability, X-linked, syndromic 1", "description": "" }, { "id": "MONDO:0010654", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "resource": "MONDO", "name": "PRTS", "description": "" }, { "id": "MONDO:0010654", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "resource": "MONDO", "name": "intellectual disability, X-linked, with dystonic movements, ataxia, and seizures", "description": "" }, { "id": "MONDO:0010654", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "resource": "MONDO", "name": "Partington X-linked mental retardation syndrome", "description": "" }, { "id": "MONDO:0010654", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "resource": "MONDO", "name": "Partington X-linked mental retardation syndrome; PRTS", "description": "" }, { "id": "MONDO:0010654", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "resource": "MONDO", "name": "X-linked intellectual disability-dystonia-dysarthria syndrome", "description": "" }, { "id": "MONDO:0010654", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "resource": "MONDO", "name": "mental retardation, X-linked 36", "description": "" }, { "id": "MONDO:0010654", "url": "https://monarchinitiative.org/disease/MONDO:0010654", "resource": "MONDO", "name": "Partington-Mulley syndrome", "description": "" }, { "id": "DOID:0060309", "url": "http://disease-ontology.org/term/DOID:0060309", "resource": "Disease Ontology", "name": "syndromic X-linked mental retardation", "description": "" } ], "recommended_name": { "id": "DOID:0060309", "url": "http://disease-ontology.org/term/DOID:0060309", "resource": "Disease Ontology", "name": "syndromic X-linked intellectual disability", "description": "A syndromic intellectual characterized by an X-linked inheritance pattern." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0060309#disease-associations", "id": "0060309", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0012050", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "resource": "MONDO", "name": "major depressive disorder 1", "description": "" }, { "id": "MONDO:0012050", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "resource": "MONDO", "name": "unipolar depression 1", "description": "" }, { "id": "MONDO:0012050", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "resource": "MONDO", "name": "MDD1", "description": "" }, { "id": "MONDO:0012050", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "resource": "MONDO", "name": "major depressive disorder type 1", "description": "" }, { "id": "DOID:1470", "url": "http://disease-ontology.org/term/DOID:1470", "resource": "Disease Ontology", "name": "recurrent major depression", "description": "" }, { "id": "DOID:1470", "url": "http://disease-ontology.org/term/DOID:1470", "resource": "Disease Ontology", "name": "single major depressive episode", "description": "" } ], "recommended_name": { "id": "DOID:1470", "url": "http://disease-ontology.org/term/DOID:1470", "resource": "Disease Ontology", "name": "major depressive disorder", "description": "An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/1470#disease-associations", "id": "1470", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0010590", "url": "https://monarchinitiative.org/disease/MONDO:0010590", "resource": "MONDO", "name": "FG syndrome 1", "description": "" }, { "id": "MONDO:0010590", "url": "https://monarchinitiative.org/disease/MONDO:0010590", "resource": "MONDO", "name": "Opitz-Kaveggia syndrome", "description": "" }, { "id": "MONDO:0010590", "url": "https://monarchinitiative.org/disease/MONDO:0010590", "resource": "MONDO", "name": "FG syndrome type 1", "description": "" }, { "id": "MONDO:0010590", "url": "https://monarchinitiative.org/disease/MONDO:0010590", "resource": "MONDO", "name": "Opitz-Kaveggia syndrome; OKS", "description": "" }, { "id": "MONDO:0010590", "url": "https://monarchinitiative.org/disease/MONDO:0010590", "resource": "MONDO", "name": "MED12 FG syndrome", "description": "" }, { "id": "MONDO:0010590", "url": "https://monarchinitiative.org/disease/MONDO:0010590", "resource": "MONDO", "name": "Keller syndrome", "description": "" }, { "id": "MONDO:0010590", "url": "https://monarchinitiative.org/disease/MONDO:0010590", "resource": "MONDO", "name": "FG syndrome caused by mutation in MED12", "description": "" }, { "id": "MONDO:0010590", "url": "https://monarchinitiative.org/disease/MONDO:0010590", "resource": "MONDO", "name": "OKS", "description": "" }, { "id": "MONDO:0010590", "url": "https://monarchinitiative.org/disease/MONDO:0010590", "resource": "MONDO", "name": "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum", "description": "" }, { "id": "DOID:14711", "url": "http://disease-ontology.org/term/DOID:14711", "resource": "Disease Ontology", "name": "Keller syndrome", "description": "" }, { "id": "DOID:14711", "url": "http://disease-ontology.org/term/DOID:14711", "resource": "Disease Ontology", "name": "Opitz-Kaveggia syndrome", "description": "" } ], "recommended_name": { "id": "DOID:14711", "url": "http://disease-ontology.org/term/DOID:14711", "resource": "Disease Ontology", "name": "FG syndrome", "description": "A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/14711#disease-associations", "id": "14711", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:1967", "url": "http://disease-ontology.org/term/DOID:1967", "resource": "Disease Ontology", "name": "Leiomyosarcomas", "description": "" } ], "recommended_name": { "id": "DOID:1967", "url": "http://disease-ontology.org/term/DOID:1967", "resource": "Disease Ontology", "name": "leiomyosarcoma", "description": "A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/1967#disease-associations", "id": "1967", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [], "recommended_name": { "id": "DOID:591", "url": "http://disease-ontology.org/term/DOID:591", "resource": "Disease Ontology", "name": "phobic disorder", "description": "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/591#disease-associations", "id": "591", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0019182", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "resource": "MONDO", "name": "monogenic obesity", "description": "" }, { "id": "MONDO:0019182", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "resource": "MONDO", "name": "genetic obesity (disease)", "description": "" }, { "id": "MONDO:0019182", "url": "https://monarchinitiative.org/disease/MONDO:0019182", "resource": "MONDO", "name": "genetic obesity", "description": "" } ], "recommended_name": { "id": "DOID:9970", "url": "http://disease-ontology.org/term/DOID:9970", "resource": "Disease Ontology", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/9970#disease-associations", "id": "9970", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [ { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "start_pos": "1259", "end_pos": "1259", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "start_pos": "1270", "end_pos": "1270", "kinase_uniprot_canonical_ac": "" }, { "residue": "Tyr", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "start_pos": "166", "end_pos": "166", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "Atxn7l3b", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21183079", "id": "21183079", "database": "PubMed" } ], "start_pos": "636", "end_pos": "636", "kinase_uniprot_canonical_ac": "Q3UD01-1" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "start_pos": "636", "end_pos": "636", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "start_pos": "666", "end_pos": "666", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "start_pos": "699", "end_pos": "699", "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "id": "A2AGH6", "database": "UniProtKB" } ], "start_pos": "701", "end_pos": "701", "kinase_uniprot_canonical_ac": "" } ], "mass": { "monoisotopic_mass": 244561.0, "chemical_mass": 244561.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6", "name": "Med12", "locus": { "end_pos": 101297465, "strand": "+", "start_pos": 101274030, "chromosome": "X", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000079487", "id": "ENSMUSG00000079487", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2AGH6#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Mediator complex subunit 12" }, { "url": "https://www.uniprot.org/uniprot/A2AGH6#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Mediator of RNA polymerase II transcription subunit 12" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AGH6", "type": "synonym", "resource": "RefSeq", "name": "OPA-containing protein 1; trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit); trinucleotide repeat containing 11 (THR-associated protein); mediator of RNA polymerase II transcription, subunit 12 homolog; trinucleotide repeat-containing gene 11 protein; thyroid hormone receptor-associated protein complex 230 kDa component" }, { "url": "https://www.uniprot.org/uniprot/A2AGH6#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "OPA-containing protein" }, { "url": "https://www.uniprot.org/uniprot/A2AGH6#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Thyroid hormone receptor-associated protein complex 230 kDa component" }, { "url": "https://www.uniprot.org/uniprot/A2AGH6#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Trap230" }, { "url": "https://www.uniprot.org/uniprot/A2AGH6#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Trinucleotide repeat-containing gene 11 protein" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AGH6", "type": "synonym", "resource": "RefSeq", "name": "mediator of RNA polymerase II transcription subunit 12" } ] }