MED17 (mediator complex subunit 17)

2015-10-01 Affiliation

Identity

HGNC

MED17

LOCATION

11q21

LOCUSID

9440

ALIAS

CRSP6,CRSP77,DRIP80,SRB4,TRAP80

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 9440
MIM: 603810
HGNC: 2375
Ensembl: ENSG00000042429

Variants:

dbSNP: 9440
ClinVar: 9440
TCGA: ENSG00000042429
COSMIC: MED17

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000042429	ENST00000251871	Q9NVC6
ENSG00000042429	ENST00000528786	E9PJZ4
ENSG00000042429	ENST00000533133	E9PM72
ENSG00000042429	ENST00000533359	E9PKQ4
ENSG00000042429	ENST00000638294	A0A1W2PQE4
ENSG00000042429	ENST00000638487	A0A1W2PR99
ENSG00000042429	ENST00000638518	A0A1W2PPC8
ENSG00000042429	ENST00000638790	A0A1W2PPP8
ENSG00000042429	ENST00000639189	A0A1W2PQ48
ENSG00000042429	ENST00000639457	A0A1W2PR99
ENSG00000042429	ENST00000639523	A0A1W2PRS0
ENSG00000042429	ENST00000639596	A0A1W2PQ48
ENSG00000042429	ENST00000639724	A0A1W2PS27
ENSG00000042429	ENST00000640027	A0A1W2PS69
ENSG00000042429	ENST00000640077	A0A1W2PNF3
ENSG00000042429	ENST00000640451	A0A1W2PRX4
ENSG00000042429	ENST00000640473	A0A1W2PPJ7
ENSG00000042429	ENST00000640521	A0A1W2PNW7

Expression (GTEx)

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

Pathway	Source	External ID
Thyroid hormone signaling pathway	KEGG	hsa04919
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	REACTOME	R-HSA-400206
PPARA activates gene expression	REACTOME	R-HSA-1989781
Developmental Biology	REACTOME	R-HSA-1266738
Transcriptional regulation of white adipocyte differentiation	REACTOME	R-HSA-381340

References

Pubmed ID	Year	Title	Citations
36508181	2022	An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.	0
36508181	2022	An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.	0
33596087	2021	The cell polarity kinase Par1b/MARK2 activation selects specific NF-kB transcripts via phosphorylation of core mediator Med17/TRAP80.	2
33756211	2021	Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.	0
34392449	2021	Increased unfolded protein responses caused by MED17 mutations.	2
33596087	2021	The cell polarity kinase Par1b/MARK2 activation selects specific NF-kB transcripts via phosphorylation of core mediator Med17/TRAP80.	2
33756211	2021	Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.	0
34392449	2021	Increased unfolded protein responses caused by MED17 mutations.	2
25437875	2015	Hepatic TRAP80 selectively regulates lipogenic activity of liver X receptor.	15
25482373	2015	Human mediator MED17 subunit plays essential roles in gene regulation by associating with the transcription and DNA repair machineries.	7
25437875	2015	Hepatic TRAP80 selectively regulates lipogenic activity of liver X receptor.	15
25482373	2015	Human mediator MED17 subunit plays essential roles in gene regulation by associating with the transcription and DNA repair machineries.	7
21326907	2011	Mediator and post-recruitment regulation of RNA polymerase II.	17
21326907	2011	Mediator and post-recruitment regulation of RNA polymerase II.	17
20950787	2010	Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.	28

Citation

Dessen P

MED17 (mediator complex subunit 17)

Atlas Genet Cytogenet Oncol Haematol. 2015-10-01

Online version: http://atlasgeneticsoncology.org/gene/55422/med17-(mediator-complex-subunit-17)