MED13 (mediator complex subunit 13)

2014-08-01   Dessen P  

Identity

HGNC
MED13
LOCATION
17q23.2
LOCUSID
9969
ALIAS
ARC250,DRIP250,HSPC221,MRD61,THRAP1,TRAP240
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9969
MIM: 603808
HGNC: 22474
Ensembl: ENSG00000108510

Variants:

dbSNP: 9969
ClinVar: 9969
TCGA: ENSG00000108510
COSMIC: MED13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108510ENST00000397786Q9UHV7
ENSG00000108510ENST00000397786A0A024QZ75
ENSG00000108510ENST00000583958J3QRB7

Expression (GTEx)

0
5
10
15
20
25
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

References

Pubmed IDYearTitleCitations
365431342022MED13 and glycolysis are conserved modifiers of α-synuclein-associated neurodegeneration.6
365431342022MED13 and glycolysis are conserved modifiers of α-synuclein-associated neurodegeneration.6
332582862021Could the MED13 mutations manifest as a Kabuki-like syndrome?2
333908532021Potential roles of mediator Complex Subunit 13 in Cardiac Diseases.4
332582862021Could the MED13 mutations manifest as a Kabuki-like syndrome?2
333908532021Potential roles of mediator Complex Subunit 13 in Cardiac Diseases.4
297406992018De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.29
297406992018De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.29
271295002016Frameshift Mutations of HSPA4 and MED13 in Gastric and Colorectal Cancers.4
271295002016Frameshift Mutations of HSPA4 and MED13 in Gastric and Colorectal Cancers.4
261823522015Mediator kinase module and human tumorigenesis.67
261823522015Mediator kinase module and human tumorigenesis.67
254223562014MED13-dependent signaling from the heart confers leanness by enhancing metabolism in adipose tissue and liver.63
254223562014MED13-dependent signaling from the heart confers leanness by enhancing metabolism in adipose tissue and liver.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

MED13 (mediator complex subunit 13)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54448/med13-(mediator-complex-subunit-13)