CHCHD7 (coiled-coil-helix-coiled-coil-helix domain containing 7)

2007-06-01  

Identity

HGNC
LOCATION
8q12.1
LOCUSID
ALIAS
COX23
FUSION GENES

Other Information

Locus ID:

NCBI: 79145
MIM: 611238
HGNC: 28314
Ensembl: ENSG00000170791

Variants:

dbSNP: 79145
ClinVar: 79145
TCGA: ENSG00000170791
COSMIC: CHCHD7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170791ENST00000303759Q9BUK0
ENSG00000170791ENST00000355315Q9BUK0
ENSG00000170791ENST00000396723J3KPV1
ENSG00000170791ENST00000517636E5RJ08
ENSG00000170791ENST00000517933E5RFN2
ENSG00000170791ENST00000518801Q9BUK0
ENSG00000170791ENST00000519367Q9BUK0
ENSG00000170791ENST00000521524Q9BUK0
ENSG00000170791ENST00000521831Q9BUK0
ENSG00000170791ENST00000521982E5RII1
ENSG00000170791ENST00000523061E5RHM5
ENSG00000170791ENST00000523532E5RJ15
ENSG00000170791ENST00000523667E5RJ15
ENSG00000170791ENST00000523975Q9BUK0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

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
192660772009Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.48
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
167365002006CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.15
228420482012Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins.12

Citation

Dessen P

CHCHD7 (coiled-coil-helix-coiled-coil-helix domain containing 7)

Atlas Genet Cytogenet Oncol Haematol. 2007-06-01

Online version: http://atlasgeneticsoncology.org/gene/44028/chchd7