MED12 (mediator complex subunit 12)

2011-11-01  

Identity

HGNC
MED12
LOCATION
Xq13.1
LOCUSID
9968
ALIAS
ARC240,CAGH45,FGS1,HOPA,Kto,MED12S,OHDOX,OKS,OPA1,TNRC11,TRAP230
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9968
MIM: 300188
HGNC: 11957
Ensembl: ENSG00000184634

Variants:

dbSNP: 9968
ClinVar: 9968
TCGA: ENSG00000184634
COSMIC: MED12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184634ENST00000333646Q7Z3Z5
ENSG00000184634ENST00000374080Q93074
ENSG00000184634ENST00000374102Q93074
ENSG00000184634ENST00000429213H7C191
ENSG00000184634ENST00000444034H7C274

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Thyroid hormone signaling pathwayKEGGhsa04919
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781
Developmental BiologyREACTOMER-HSA-1266738
Transcriptional regulation of white adipocyte differentiationREACTOMER-HSA-381340

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
368943992024MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.0
375166972024The Mediator Complex Subunit 12 (MED-12) Gene and Uterine Fibroids: a Systematic Review.0
382793172024The Effect of Race/Ethnicity and MED12 Mutation on the Expression of Long Non-Coding RNAs in Uterine Leiomyoma and Myometrium.2
382907962024Racial disparity in uterine leiomyoma: new insights of genetic and environmental burden in myometrial cells.1
368943992024MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.0
375166972024The Mediator Complex Subunit 12 (MED-12) Gene and Uterine Fibroids: a Systematic Review.0
382793172024The Effect of Race/Ethnicity and MED12 Mutation on the Expression of Long Non-Coding RNAs in Uterine Leiomyoma and Myometrium.2
382907962024Racial disparity in uterine leiomyoma: new insights of genetic and environmental burden in myometrial cells.1
361505192023MED12 mutations in uterine leiomyomas: prediction of volume reduction by gonadotropin-releasing hormone agonists.2
362718112023Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.1
368351532023Differential Expression of MED12-Associated Coding RNA Transcripts in Uterine Leiomyomas.6
376683482023RISING STARS: Role of MED12 mutation in the pathogenesis of uterine fibroids.1
381298172023Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy.0
361505192023MED12 mutations in uterine leiomyomas: prediction of volume reduction by gonadotropin-releasing hormone agonists.2
362718112023Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.1

Citation

Dessen P

MED12 (mediator complex subunit 12)

Atlas Genet Cytogenet Oncol Haematol. 2011-11-01

Online version: http://atlasgeneticsoncology.org/gene/52444/case-report-explorer/img/gene-fusions/?id=52444