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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CHCHD7
coiled-coil-helix-coiled-coil-helix domain containing 7
Chromosome 8 · 8q12.1
NCBI Gene: 79145Ensembl: ENSG00000170791.18HGNC: HGNC:28314UniProt: E5RHM5
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmitochondrial respiratory chain complex assemblymitochondrial intermembrane spaceSalivary Gland Pleomorphic AdenomaParotid Gland Pleomorphic AdenomaSalivary Gland Carcinoma ex Pleomorphic Adenomasalivary gland adenoid cystic carcinoma
✦AI Summary

CHCHD7 (coiled-coil-helix-coiled-coil-helix domain containing 7) is a mitochondrial protein belonging to the twin CX9C protein family. Structurally, CHCHD7 contains a conserved CHCH domain stabilized by two disulfide bonds and a third helix that interacts hydrophobically with an extension of helix α2 1. Upon reduction of disulfide bonds, CHCHD7 becomes unstructured and aggregates, suggesting a model where protein recognition occurs when CHCHD7 is partially embedded in the mitochondrial outer membrane import pore during Mia40-dependent import 1. While its precise biological function remains unknown, CHCHD7 has been identified as a recurrent fusion partner of PLAG1 in pleomorphic salivary adenomas and other mesenchymal tumors 2. CHCHD7-PLAG1 fusions result from cytogenetically cryptic intrachromosomal 8q rearrangements, with breakpoints in the 5'-noncoding regions leading to PLAG1 promoter swapping and oncogenic overexpression 2. These fusions have been documented in salivary gland pleomorphic adenomas, soft tissue tumors, and uterine sarcomas 34567. The clinical significance relates to tumor classification and prognostication, as CHCHD7-PLAG1 fusion detection helps distinguish neoplastic subtypes with distinct morphologies and biological behaviors.

Sources cited
1
CHCHD7 contains a CHCH domain stabilized by disulfide bonds and a third helix; upon reduction of disulfide bonds, becomes unstructured and aggregates; protein recognition occurs when partially embedded in mitochondrial outer membrane import pore
PMID: 22842048
2
CHCHD7-PLAG1 is a novel recurrent gene fusion in pleomorphic adenomas resulting from cryptic intrachromosomal 8q rearrangements; CHCHD7 is ubiquitously expressed; fusion occurs via promoter swapping in 5'-noncoding regions leading to PLAG1 overexpression
PMID: 16736500
3
CHCHD7 identified as a fusion partner with PLAG1 in salivary gland pleomorphic adenomas
PMID: 34324456
4
CHCHD7-PLAG1 fusion identified in soft tissue tumor with PLAG1 rearrangement
PMID: 33893698
5
CHCHD7-PLAG1 fusion identified in PLAG1-rearranged uterine sarcomas
PMID: 38942115
6
CHCHD7-PLAG1 fusion detected in oncocytic variants of salivary pleomorphic adenoma and myoepithelioma
PMID: 32673681
7
CHCHD7-PLAG1 fusion identified in fusion-driven cutaneous and superficial mesenchymal tumors
PMID: 38556256
Disease Associationsⓘ20
Salivary Gland Pleomorphic AdenomaOpen Targets
0.37Weak
Parotid Gland Pleomorphic AdenomaOpen Targets
0.37Weak
salivary gland adenoid cystic carcinomaOpen Targets
0.37Weak
Salivary Gland Carcinoma ex Pleomorphic AdenomaOpen Targets
0.37Weak
salivary gland mucoepidermoid carcinomaOpen Targets
0.28Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.18Weak
breast carcinomaOpen Targets
0.18Weak
breast ductal adenocarcinomaOpen Targets
0.18Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.18Weak
colorectal adenocarcinomaOpen Targets
0.18Weak
cutaneous melanomaOpen Targets
0.18Weak
Duodenal AdenocarcinomaOpen Targets
0.18Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.18Weak
gastric carcinomaOpen Targets
0.18Weak
lung carcinomaOpen Targets
0.18Weak
ovarian mucinous adenocarcinomaOpen Targets
0.18Weak
papillary thyroid carcinomaOpen Targets
0.18Weak
Salivary Gland Basal Cell AdenocarcinomaOpen Targets
0.18Weak
skin squamous cell carcinomaOpen Targets
0.18Weak
urinary bladder carcinomaOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CHCHD4Protein interaction100%PLAG1Protein interaction95%COX11Protein interaction86%COX17Protein interaction86%COA5Protein interaction84%TCEA1Protein interaction77%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
82%
Brain
72%
Ovary
71%
Lung
58%
Liver
42%
Gene Interaction Network
Click a node to explore
CHCHD7CHCHD4PLAG1COX11COX17COA5TCEA1
PROTEIN STRUCTURE
Preparing viewer…
PDB2LQT · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.11 [0.59–1.84]
RankingsWhere CHCHD7 stands among ~20K protein-coding genes
  • #12,330of 20,598
    Most Researched28
  • #16,800of 17,882
    Most Constrained (LOEUF)1.84
Genes detectedCHCHD7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
HMGA2-WIF1 Rearrangements Characterize a Distinctive Subset of Salivary Pleomorphic Adenomas With Prominent Trabecular (Canalicular Adenoma-like) Morphology.
PMID: 34324456
Am J Surg Pathol · 2022
1.00
2
CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.
PMID: 16736500
Genes Chromosomes Cancer · 2006
0.90
3
Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins.
PMID: 22842048
J Struct Biol · 2012
0.80
4
PLAG1-Rearranged Uterine Sarcomas: A Study of 11 Cases Showing a Wide Phenotypical Spectrum Not Limited to Myxoid Leiomyosarcoma-Like Morphology.
PMID: 38942115
Mod Pathol · 2024
0.70
5
Novel morphologic findings in PLAG1-rearranged soft tissue tumors.
PMID: 33893698
Genes Chromosomes Cancer · 2021
0.60