MED12

Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known as MED12, is a human gene found on the X chromosome.^[5]

MED12
Identifiers
Aliases	MED12, ARC240, CAGH45, FGS1, HOPA, MED12S, OHDOX, OKS, OPA1, TNRC11, TRAP230, mediator complex subunit 12, Kto, HDKR
External IDs	OMIM: 300188; MGI: 1926212; HomoloGene: 68441; GeneCards: MED12; OMA:MED12 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq13.1 Start 71,118,543 bp[1] End 71,144,103 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X D Start 100,317,636 bp[2] End 100,341,071 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal cortex left ovary right ovary left adrenal gland left adrenal cortex body of uterus right uterine tube spleen canal of the cervix right lobe of thyroid gland Top expressed in bone marrow tail of embryo islet of Langerhans spleen genital tubercle neural layer of retina thymus adrenal gland cerebellar cortex granulocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding transcription coactivator activity beta-catenin binding protein domain specific binding ubiquitin protein ligase activity transcription coregulator activity transcription factor binding chromatin binding thyroid hormone receptor binding protein C-terminus binding protein binding nuclear receptor coactivator activity vitamin D receptor binding signaling receptor activity Cellular component membrane ubiquitin ligase complex mediator complex nucleus nucleoplasm Biological process somitogenesis androgen receptor signaling pathway endoderm development regulation of transcription, DNA-templated embryonic organ development embryonic neurocranium morphogenesis axis elongation involved in somitogenesis regulation of transcription by RNA polymerase II Schwann cell development negative regulation of Wnt signaling pathway intracellular steroid hormone receptor signaling pathway transcription, DNA-templated stem cell population maintenance positive regulation of transcription, DNA-templated Wnt signaling pathway, planar cell polarity pathway development of the heart neural tube closure embryonic brain development protein ubiquitination neural tube development spinal cord development post-anal tail morphogenesis canonical Wnt signaling pathway oligodendrocyte development transcription initiation from RNA polymerase II promoter positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9968 59024 Ensembl ENSG00000184634 ENSMUSG00000079487 UniProt Q93074 A2AGH6 RefSeq (mRNA) NM_005120 NM_021521 RefSeq (protein) NP_005111 NP_067496 Location (UCSC) Chr X: 71.12 – 71.14 Mb Chr X: 100.32 – 100.34 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

Mutations in MED12 are responsible for at least two different forms of X-linked dominant Intellectual disability, Lujan-Fryns syndrome and FG syndrome, as well as instances of prostate cancer.^[6]

Mutations in MED12 are associated with uterine leiomyomas^[7] and breast fibroepithelial tumors (e.g. fibroadenoma and phyllodes tumors).^[8]

Interactions

MED12 has been shown to interact with:

• Calcitriol receptor,^[9]
• Cyclin-dependent kinase 8^[9][10]
• Estrogen receptor alpha,^[10]
• Gli3, G9a, PPARGC1A,^[11]
• MED26,^[12]
• SOX9,^[13] and
• Thyroid hormone receptor alpha.^[9]