JMJD1C (jumonji domain containing 1C)

2007-04-01  

Identity

HGNC
JMJD1C
LOCATION
10q21.3
LOCUSID
221037
ALIAS
KDM3C,TRIP-8,TRIP8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 221037
MIM: 604503
HGNC: 12313
Ensembl: ENSG00000171988

Variants:

dbSNP: 221037
ClinVar: 221037
TCGA: ENSG00000171988
COSMIC: JMJD1C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171988ENST00000327520H7BXU7
ENSG00000171988ENST00000399262Q15652
ENSG00000171988ENST00000542921Q15652
ENSG00000171988ENST00000639129A0A1W2PNZ9

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
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231

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
199362222009Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.151
189403122008Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.150
206484722010PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease.105
205263382010Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.84
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
242406132013JMJD1C demethylates MDC1 to regulate the RNF8 and BRCA1-mediated chromatin response to DNA breaks.43
173530032007A novel variant of the putative demethylase gene, s-JMJD1C, is a coactivator of the AR.31
245012182014shRNA screening identifies JMJD1C as being required for leukemia maintenance.30
235932422013Protein complex interactor analysis and differential activity of KDM3 subfamily members towards H3K9 methylation.28

Citation

Dessen P

JMJD1C (jumonji domain containing 1C)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47214/jmjd1c