MED12 mediator complex subunit 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MED12provided by HGNC
Official Full Name: mediator complex subunit 12provided by HGNC
Primary source: HGNC:HGNC:11957
See related: Ensembl:ENSG00000184634 MIM:300188; AllianceGenome:HGNC:11957
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Kto; OKS; FGS1; HDKR; HOPA; OPA1; OHDOX; ARC240; CAGH45; MED12S; TNRC11; TRAP230
Summary: 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 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]
Expression: Ubiquitous expression in ovary (RPKM 11.0), spleen (RPKM 10.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq13.1

Exon count:: 44

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (71118596..71142450)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (69551517..69576535)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (70338446..70362300)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.
Title: MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.
Racial disparity in uterine leiomyoma: new insights of genetic and environmental burden in myometrial cells.
Title: Racial disparity in uterine leiomyoma: new insights of genetic and environmental burden in myometrial cells.
The Effect of Race/Ethnicity and MED12 Mutation on the Expression of Long Non-Coding RNAs in Uterine Leiomyoma and Myometrium.
Title: The Effect of Race/Ethnicity and MED12 Mutation on the Expression of Long Non-Coding RNAs in Uterine Leiomyoma and Myometrium.
The Mediator Complex Subunit 12 (MED-12) Gene and Uterine Fibroids: a Systematic Review.
Title: The Mediator Complex Subunit 12 (MED-12) Gene and Uterine Fibroids: a Systematic Review.
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy.
Title: Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy.
RISING STARS: Role of MED12 mutation in the pathogenesis of uterine fibroids.
Title: RISING STARS: Role of MED12 mutation in the pathogenesis of uterine fibroids.
Differential Expression of MED12-Associated Coding RNA Transcripts in Uterine Leiomyomas.
Title: Differential Expression of MED12-Associated Coding RNA Transcripts in Uterine Leiomyomas.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Title: Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
MED12 mutations in uterine leiomyomas: prediction of volume reduction by gonadotropin-releasing hormone agonists.
Title: MED12 mutations in uterine leiomyomas: prediction of volume reduction by gonadotropin-releasing hormone agonists.
XLID syndrome gene Med12 promotes Ig isotype switching through chromatin modification and enhancer RNA regulation.
Title: XLID syndrome gene Med12 promotes Ig isotype switching through chromatin modification and enhancer RNA regulation.

Submit: New GeneRIF Correction See all GeneRIFs (147)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Blepharophimosis - intellectual disability syndrome, MKB type MedGen: C3698541 OMIM: 300895 GeneReviews: MED12-Related Disorders	Compare labs
Cholestasis-pigmentary retinopathy-cleft palate syndrome MedGen: C0795969 OMIM: 301068 GeneReviews: MED12-Related Disorders	Compare labs
FG syndrome 1 MedGen: C5399762 OMIM: 305450 GeneReviews: MED12-Related Disorders	Compare labs
X-linked intellectual disability with marfanoid habitus MedGen: C0796022 OMIM: 309520 GeneReviews: MED12-Related Disorders	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2018-08-22) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2018-08-22) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH25405 (e-PCR)
- UniSTS:35344

DXS441 (e-PCR)
- UniSTS:99722

RH79662 (e-PCR)
- UniSTS:83609

DXS7537 (e-PCR)
- UniSTS:153833

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables beta-catenin binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables nuclear receptor coactivator activity	NAS Non-traceable Author Statement more info	PubMed
enables nuclear thyroid hormone receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables nuclear vitamin D receptor binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coregulator activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Schwann cell development	IEA Inferred from Electronic Annotation more info
involved_in Wnt signaling pathway, planar cell polarity pathway	IEA Inferred from Electronic Annotation more info
involved_in axis elongation involved in somitogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic brain development	IEA Inferred from Electronic Annotation more info
involved_in embryonic neurocranium morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in endoderm development	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in neural tube closure	IEA Inferred from Electronic Annotation more info
involved_in oligodendrocyte development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription initiation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in post-anal tail morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in somatic stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in spinal cord development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of CKM complex	IPI Inferred from Physical Interaction more info	PubMed
part_of CKM complex	ISS Inferred from Sequence or Structural Similarity more info
part_of mediator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of mediator complex	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of ubiquitin ligase complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: mediator of RNA polymerase II transcription subunit 12

Names: 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; putative mediator subunit 12; thyroid hormone receptor-associated protein complex 230 kDa component; thyroid hormone receptor-associated protein, 230 kDa subunit; trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit); trinucleotide repeat-containing gene 11 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012808.1 RefSeqGene

Range

5041..28895

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005120.3 → NP_005111.2 mediator of RNA polymerase II transcription subunit 12

See identical proteins and their annotated locations for NP_005111.2

Status: REVIEWED

Source sequence(s)

AF071309, AF117755, BM662470, DB069668

Consensus CDS

CCDS43970.1

UniProtKB/Swiss-Prot

O15410, O75557, Q93074, Q9UHV6, Q9UND7

UniProtKB/TrEMBL

B4DYQ3

Related

ENSP00000363193.3, ENST00000374080.8

Conserved Domains (3) summary

pfam09497
Location:103 → 161

Med12; Transcription mediator complex subunit Med12

pfam12144
Location:1820 → 2019

Med12-PQL; Eukaryotic Mediator 12 catenin-binding domain

pfam12145
Location:286 → 757

Med12-LCEWAV; Eukaryotic Mediator 12 subunit domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

71118596..71142450

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047442700.1 → XP_047298656.1 mediator of RNA polymerase II transcription subunit 12 isoform X2
XM_047442703.1 → XP_047298659.1 mediator of RNA polymerase II transcription subunit 12 isoform X5
XM_047442701.1 → XP_047298657.1 mediator of RNA polymerase II transcription subunit 12 isoform X3
XM_047442699.1 → XP_047298655.1 mediator of RNA polymerase II transcription subunit 12 isoform X1
XM_047442702.1 → XP_047298658.1 mediator of RNA polymerase II transcription subunit 12 isoform X4

Related

ENSP00000509011.1, ENST00000691468.1
XM_047442704.1 → XP_047298660.1 mediator of RNA polymerase II transcription subunit 12 isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

69551517..69576535

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054328233.1 → XP_054184208.1 mediator of RNA polymerase II transcription subunit 12 isoform X2
XM_054328236.1 → XP_054184211.1 mediator of RNA polymerase II transcription subunit 12 isoform X5
XM_054328234.1 → XP_054184209.1 mediator of RNA polymerase II transcription subunit 12 isoform X3
XM_054328232.1 → XP_054184207.1 mediator of RNA polymerase II transcription subunit 12 isoform X1
XM_054328235.1 → XP_054184210.1 mediator of RNA polymerase II transcription subunit 12 isoform X4
XM_054328237.1 → XP_054184212.1 mediator of RNA polymerase II transcription subunit 12 isoform X6