KDM5C (lysine demethylase 5C)

2009-04-01 Affiliation

Identity

HGNC

KDM5C

LOCATION

Xp11.22

LOCUSID

8242

ALIAS

DXS1272E,JARID1C,MRX13,MRXJ,MRXSCJ,MRXSJ,SMCX,XE169

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: 8242
MIM: 314690
HGNC: 11114
Ensembl: ENSG00000126012

Variants:

dbSNP: 8242
ClinVar: 8242
TCGA: ENSG00000126012
COSMIC: KDM5C

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000126012	ENST00000349663	F8W7H7
ENSG00000126012	ENST00000375379	P41229
ENSG00000126012	ENST00000375383	P41229
ENSG00000126012	ENST00000375401	P41229
ENSG00000126012	ENST00000404049	P41229
ENSG00000126012	ENST00000428012	F8WF56
ENSG00000126012	ENST00000429877	F8WDK1
ENSG00000126012	ENST00000452825	P41229

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
Chromatin organization	REACTOME	R-HSA-4839726
Chromatin modifying enzymes	REACTOME	R-HSA-3247509
HDMs demethylate histones	REACTOME	R-HSA-3214842

References

Pubmed ID	Year	Title	Citations
20054297	2010	Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.	458
17320160	2007	The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.	262
17468742	2007	The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.	187
24029645	2014	Radiogenomics of clear cell renal cell carcinoma: associations between CT imaging features and mutations.	64
21725364	2012	The von Hippel-Lindau tumor suppressor protein regulates gene expression and tumor growth through histone demethylase JARID1C.	58
19346402	2009	Polyubiquitination of the demethylase Jhd2 controls histone methylation and gene expression.	55
27869828	2017	Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias.	53
27058665	2016	Suppression of Enhancer Overactivation by a RACK7-Histone Demethylase Complex.	49
16541399	2006	Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.	33
18697827	2008	Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.	31

Citation

Dessen P

KDM5C (lysine demethylase 5C)

Atlas Genet Cytogenet Oncol Haematol. 2009-04-01

Online version: http://atlasgeneticsoncology.org/gene/50851/kdm5c