Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	MED12
Previous Symbol	TNRC11, FGS1
Symbol Alias	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS
Approved Name	mediator complex subunit 12
Previous Name	trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit), "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"
Location	Xq13
Position	chrX:71118556-71142454, 1
External Links	HGNC: 11957 Entrez Gene: 9968 Ensembl: ENSG00000184634 UCSC: uc004dyy.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kirov, G.,2003	Other variant: MED12_exon42_duplication	We conclude that the HOPA polymorphism is unlikely to be a major risk factor in the pathogenesis of these major psychiatric disorders although there could be a small effect in schizophrenia.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 35)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[19946888]	137
GO:0004872	receptor activity	molecular function	IDA[12218053]	19
GO:0019904	protein domain specific binding	molecular function	IPI[11984006]	24
GO:0005634	nucleus	cellular component	IDA	283

GO terms by database search (count: 31)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	molecular function	IEA	5
GO:0046966	thyroid hormone receptor binding	molecular function	IDA[10198638]	1
GO:0006367	transcription initiation from RNA polymerase II promoter	biological process	IDA[12218053]; TAS	20
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0030518	intracellular steroid hormone receptor signaling pathway	biological process	IDA[11867769]	2
GO:0042809	vitamin D receptor binding	molecular function	NAS[10235266]	1
GO:0005813	centrosome	cellular component	IDA	34
GO:0019827	stem cell maintenance	biological process	IEA	3
GO:0005515	protein binding	molecular function	IPI[21293490]	563
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[12037571]	91
GO:0001104	RNA polymerase II transcription cofactor activity	molecular function	IDA[10198638]	4
GO:0008013	beta-catenin binding	molecular function	IEA	14
GO:0030374	ligand-dependent nuclear receptor transcription coactivator activity	molecular function	NAS[10235266]	3
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[10198638]	58
GO:0016592	mediator complex	cellular component	IDA[10198638]	5
GO:0008022	protein C-terminus binding	molecular function	IPI[17000779]	21
GO:0007507	heart development	biological process	IEA	20
GO:0090245	axis elongation involved in somitogenesis	biological process	IEA	1
GO:0003682	chromatin binding	molecular function	IEA	23
GO:0001843	neural tube closure	biological process	IEA	8
GO:0001190	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription	molecular function	IEA	4
GO:0030521	androgen receptor signaling pathway	biological process	IDA[12218053]	5
GO:0003712	transcription cofactor activity	molecular function	IDA[12218053]	4
GO:0014003	oligodendrocyte development	biological process	IEA	2
GO:0005730	nucleolus	cellular component	IDA	28
GO:0030178	negative regulation of Wnt signaling pathway	biological process	IMP[17000779]	5
GO:0010467	gene expression	biological process	TAS	41
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	biological process	IEA	3
GO:0060070	canonical Wnt signaling pathway	biological process	IEA	9
GO:0014044	Schwann cell development	biological process	IEA	2
GO:0003713	transcription coactivator activity	molecular function	IDA[12037571]	22

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 8)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
MED12	MED9	NO	in vitro	14638676
MED12	MED8	NO	in vitro	12584197
MED12	SOX9	NO	in vitro;in vivo	12136106
MED12	MED26	NO	in vitro	15175163
MED12	CDK8	NO	in vivo	15175163
MED12	MED1	NO	in vivo	15175163
MED12	MED13	NO	in vitro;in vivo	15175163
MED12	LYST	NO	in vivo;yeast 2-hybrid	11984006

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs7624750	chr3:193617202 - 193617202(1)	downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
MED12_exon42_duplication	duplication	exon42	1 (0/1/0)

Gene related regions (count: 0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
12627458	We conclude that the HOPA polymorphism is unlikely to be a major risk factor in the pathogenesis of these major psychiatric disorders although there could be a small effect in schizophrenia.	Trend

Overlap with SZ from candidate gene intersection analysis (count: 4)

Reference	ID in SZGene	Result Category
14582143	45	Negative
17299734	45	Positive
10898921	45	Trend
12627458	45	Trend

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
12216017	HOPA polymorphisms were associated with an increased risk for major depression.	Pos	MED12

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Region: chrX:71118556..71142454 View in gBrowse