CHCHD3 (coiled-coil-helix-coiled-coil-helix domain containing 3)

2014-08-01  

Identity

HGNC
LOCATION
7q32.3
LOCUSID
ALIAS
MICOS19,MINOS3,Mic19,PPP1R22
FUSION GENES

Other Information

Locus ID:

NCBI: 54927
MIM: 613748
HGNC: 21906
Ensembl: ENSG00000106554

Variants:

dbSNP: 54927
ClinVar: 54927
TCGA: ENSG00000106554
COSMIC: CHCHD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106554ENST00000262570Q9NX63
ENSG00000106554ENST00000262570A4D1N4
ENSG00000106554ENST00000423635F8WAR4
ENSG00000106554ENST00000448878C9JRZ6
ENSG00000106554ENST00000481152A0A286YEX5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

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
210815042011ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function.100
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
230193272012Targeting and import mechanism of coiled-coil helix coiled-coil helix domain-containing protein 3 (ChChd3) into the mitochondrial intermembrane space.21
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
288080852017Sub-mitochondrial localization of the genetic-tagged mitochondrial intermembrane space-bridging components Mic19, Mic60 and Sam50.9
264168812015The Oxidation Status of Mic19 Regulates MICOS Assembly.5

Citation

Dessen P

CHCHD3 (coiled-coil-helix-coiled-coil-helix domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54214/chchd3