CHCHD6 (coiled-coil-helix-coiled-coil-helix domain containing 6)

2014-08-01  

Identity

HGNC
LOCATION
3q21.3
LOCUSID
ALIAS
CHCM1,MICOS25,Mic25,PPP1R23
FUSION GENES

Other Information

Locus ID:

NCBI: 84303
MIM: 615634
HGNC: 28184
Ensembl: ENSG00000159685

Variants:

dbSNP: 84303
ClinVar: 84303
TCGA: ENSG00000159685
COSMIC: CHCHD6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159685ENST00000290913Q9BRQ6
ENSG00000159685ENST00000503119J3QTB2
ENSG00000159685ENST00000508789J3QTA6
ENSG00000159685ENST00000513253H0Y922

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
176243302007The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
222287672012CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology.37
265303282015Mitofilin and CHCHD6 physically interact with Sam50 to sustain cristae structure.29

Citation

Dessen P

CHCHD6 (coiled-coil-helix-coiled-coil-helix domain containing 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54215/chchd6