CHCHD5 (coiled-coil-helix-coiled-coil-helix domain containing 5)

2019-04-01  

Identity

HGNC
LOCATION
2q14.1
LOCUSID
ALIAS
C2orf9,CHTM1,MIC14,MIX14

Other Information

Locus ID:

NCBI: 84269
MIM: 616978
HGNC: 17840
Ensembl: ENSG00000125611

Variants:

dbSNP: 84269
ClinVar: 84269
TCGA: ENSG00000125611
COSMIC: CHCHD5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125611ENST00000324913Q9BSY4
ENSG00000125611ENST00000324913A0A2U9EWT9
ENSG00000125611ENST00000409719Q9BSY4
ENSG00000125611ENST00000454841F8WC14

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
228420482012Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins.12
293716802018CHTM1, a novel metabolic marker deregulated in human malignancies.2
288937452017A new risk locus in CHCHD5 for hypertension and obesity in a Chinese child population: a cohort study.0
312211762019CHTM1 regulates cancer cell sensitivity to metabolic stress via p38-AIF1 pathway.0

Citation

Dessen P

CHCHD5 (coiled-coil-helix-coiled-coil-helix domain containing 5)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57898/chchd5