• Gene id: 9968

Gene Summary

• Gene Symbol: MED12   Gene   UCSC   Ensembl
• Aliases: ARC240, CAGH45, FGS1, HOPA, Kto, MED12S, OHDOX, OKS, OPA1, TNRC11, TRAP230
• Gene name: mediator complex subunit 12
• Alternate names: mediator of RNA polymerase II transcription subunit 12, CAG repeat protein 45, Kohtalo homolog, OPA-containing protein, activator-recruited cofactor 240 kDa component, human opposite paired, mediator of RNA polymerase II transcription, subunit 12 homolog, putati,
• Gene location: Xq13.1 (71118595: 71142449)     Exons: 45     NC_000023.11
• Gene summary(Entrez): The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subco
• OMIM: 614601

Protein Summary

• Protein general information: Q93074  
  • Name: Mediator of RNA polymerase II transcription subunit 12 (Activator recruited cofactor 240 kDa component) (ARC240) (CAG repeat protein 45) (Mediator complex subunit 12) (OPA containing protein) (Thyroid hormone receptor associated protein complex 230 kDa co
  • Length: 2177  
  • Mass: 243081
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MAAFGILSYEHRPLKRPRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAKNVSFNPAKISSNFSS
  IIAEKLRCNTLPDTGRRKPQVNQKDNFWLVTARSQSAINTWFTDLAGTKPLTQLAKKVPIFSKKEEVFGYLAKYT
  VPVMRAAWLIKMTCAYYAAISETKVKKRHVDPFMEWTQIITKYLWEQLQKMAEYYRPGPAGSGGCGSTIGPLPHD
  VEVAIRQWDYTEKLAMFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLLLRYSGEFVQSAYLSRRLAYF
  CTRRLALQLDGVSSHSSHVISAQSTSTLPTTPAPQPPTSSTPSTPFSDLLMCPQHRPLVFGLSCILQTILLCCPS
  ALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAKLREIEQQIKERGQAVEVRWSFDKCQEATAG
  FTIGRVLHTLEVLDSHSFERSDFSNSLDSLCNRIFGLGPSKDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVV
  AKLLEKRQAEIEAERCGESEAADEKGSIASGSLSAPSAPIFQDVLLQFLDTQAPMLTDPRSESERVEFFNLVLLF
  CELIRHDVFSHNMYTCTLISRGDLAFGAPGPRPPSPFDDPADDPEHKEAEGSSSSKLEDPGLSESMDIDPSSSVL
  FEDMEKPDFSLFSPTMPCEGKGSPSPEKPDVEKEVKPPPKEKIEGTLGVLYDQPRHVQYATHFPIPQEESCSHEC
  NQRLVVLFGVGKQRDDARHAIKKITKDILKVLNRKGTAETDQLAPIVPLNPGDLTFLGGEDGQKRRRNRPEAFPT
  AEDIFAKFQHLSHYDQHQVTAQVSRNVLEQITSFALGMSYHLPLVQHVQFIFDLMEYSLSISGLIDFAIQLLNEL
  SVVEAELLLKSSDLVGSYTTSLCLCIVAVLRHYHACLILNQDQMAQVFEGLCGVVKHGMNRSDGSSAERCILAYL
  YDLYTSCSHLKNKFGELFSDFCSKVKNTIYCNVEPSESNMRWAPEFMIDTLENPAAHTFTYTGLGKSLSENPANR
  YSFVCNALMHVCVGHHDPDRVNDIAILCAELTGYCKSLSAEWLGVLKALCCSSNNGTCGFNDLLCNVDVSDLSFH
  DSLATFVAILIARQCLLLEDLIRCAAIPSLLNAACSEQDSEPGARLTCRILLHLFKTPQLNPCQSDGNKPTVGIR
  SSCDRHLLAASQNRIVDGAVFAVLKAVFVLGDAELKGSGFTVTGGTEELPEEEGGGGSGGRRQGGRNISVETASL
  DVYAKYVLRSICQQEWVGERCLKSLCEDSNDLQDPVLSSAQAQRLMQLICYPHRLLDNEDGENPQRQRIKRILQN
  LDQWTMRQSSLELQLMIKQTPNNEMNSLLENIAKATIEVFQQSAETGSSSGSTASNMPSSSKTKPVLSSLERSGV
  WLVAPLIAKLPTSVQGHVLKAAGEELEKGQHLGSSSRKERDRQKQKSMSLLSQQPFLSLVLTCLKGQDEQREGLL
  TSLYSQVHQIVNNWRDDQYLDDCKPKQLMHEALKLRLNLVGGMFDTVQRSTQQTTEWAMLLLEIIISGTVDMQSN
  NELFTTVLDMLSVLINGTLAADMSSISQGSMEENKRAYMNLAKKLQKELGERQSDSLEKVRQLLPLPKQTRDVIT
  CEPQGSLIDTKGNKIAGFDSIFKKEGLQVSTKQKISPWDLFEGLKPSAPLSWGWFGTVRVDRRVARGEEQQRLLL
  YHTHLRPRPRAYYLEPLPLPPEDEEPPAPTLLEPEKKAPEPPKTDKPGAAPPSTEERKKKSTKGKKRSQPATKTE
  DYGMGPGRSGPYGVTVPPDLLHHPNPGSITHLNYRQGSIGLYTQNQPLPAGGPRVDPYRPVRLPMQKLPTRPTYP
  GVLPTTMTGVMGLEPSSYKTSVYRQQQPAVPQGQRLRQQLQQSQGMLGQSSVHQMTPSSSYGLQTSQGYTPYVSH
  VGLQQHTGPAGTMVPPSYSSQPYQSTHPSTNPTLVDPTRHLQQRPSGYVHQQAPTYGHGLTSTQRFSHQTLQQTP
  MISTMTPMSAQGVQAGVRSTAILPEQQQQQQQQQQQQQQQQQQQQQQQQQQYHIRQQQQQQILRQQQQQQQQQQQ
  QQQQQQQQQQQQQQQHQQQQQQQAAPPQPQPQSQPQFQRQGLQQTQQQQQTAALVRQLQQQLSNTQPQPSTNIFG
  RY

• Structural information:
  • Interpro: IPR019035  IPR021989  IPR021990  
  • DIP: 31459
  • STRING: ENSP00000363193
• Other Databases: GeneCards:  MED12  Malacards:  MED12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0016592	mediator complex	IBA	cellular component
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0016592	mediator complex	IEA	cellular component
GO:0003712	transcription coregulator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0016592	mediator complex	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990403	embryonic brain development	IEA	biological process
GO:0048702	embryonic neurocranium morphogenesis	IEA	biological process
GO:0036342	post-anal tail morphogenesis	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0021510	spinal cord development	IEA	biological process
GO:0016592	mediator complex	IEA	cellular component
GO:0014044	Schwann cell development	IEA	biological process
GO:0014003	oligodendrocyte development	IEA	biological process
GO:0007492	endoderm development	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0000151	ubiquitin ligase complex	IEA	cellular component
GO:0090245	axis elongation involved in somitogenesis	IEA	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007507	heart development	IEA	biological process
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0001843	neural tube closure	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003712	transcription coregulator activity	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0016592	mediator complex	IDA	cellular component
GO:0046966	thyroid hormone receptor binding	IDA	molecular function
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0030374	nuclear receptor transcription coactivator activity	NAS	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0042809	vitamin D receptor binding	NAS	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04919	Thyroid hormone signaling pathway

Diseases

Associated diseases	References
Uterine leiomyoma	KEGG:H01640
FG syndrome	KEGG:H00894
Blepharophimosis-mental retardation syndrome	KEGG:H01795
Lujan-Fryns syndrome	KEGG:H00889
Uterine leiomyoma	KEGG:H01640
FG syndrome	KEGG:H00894
Blepharophimosis-mental retardation syndrome	KEGG:H01795
Lujan-Fryns syndrome	KEGG:H00889
Syndromic X-linked intellectual disability	PMID:17369503
FG syndrome	PMID:20507344
Mental depression	PMID:12216017
Leiomyosarcoma	PMID:26891131
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881