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Gene

CHCHD2

coiled-coil-helix-coiled-coil-helix domain containing 2

Summary

Cytogenetic location
7p11.2
Coordinates
Chromosome 7: 56,101,573–56,106,476 (GRCh38)
Exons
4 exons across 4.9 kb
Protein
151 amino acids
Also known as
MIX17B, MNRR1
Previous symbols
C7orf17
MANE Select transcript
ENST00000395422.4NM_016139.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Parkinson Disease

    • A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      LRRK2 kinase inhibitor trials, substrate reduction therapy for GBA variants, α-synuclein-targeted approaches, dopaminergic medications, levodopa

How CHCHD2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 7, with a bracket where CHCHD2 sits. CHCHD2 and 10 genes near it on chromosome 7, from 55,604,025 to 56,604,024.Chromosome 77p11.2p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.355.8 Mb56 Mb56.2 Mb56.4 Mb56.6 MbSEPTIN14: 55,793,540–55,862,755, reverse strandSEPTIN14ZNF713: 55,887,260–55,942,530, forward strandZNF713: 55,887,277–55,955,239, forward strandMRPS17: 55,950,705–55,956,500, forward strandMRPS17NIPSNAP2: 55,951,793–56,000,184, forward strandNIPSNAP2PSPH: 56,010,119–56,051,609, reverse strandPSPHCCT6A: 56,051,685–56,063,992, forward strandCCT6ASUMF2: 56,064,002–56,087,955, forward strandSUMF2PHKG1: 56,079,923–56,093,012, reverse strandPHKG1CHCHD2: 56,101,573–56,106,476, reverse strandCHCHD2NUPR2: 56,114,681–56,116,422, reverse strandNUPR2Diagram of CHCHD2: 4 exons on the reverse strand of chromosome 7Exon 4: 56,101,573–56,101,861, 289 basesExon 3: 56,102,867–56,103,011, 145 basesExon 2: 56,104,226–56,104,475, 250 basesExon 1: 56,106,364–56,106,476, 113 bases43215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 0.8 kb of the gene's 4.9 kb; 456 of those bases code for the protein.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CHCHD2 gene: coiled-coil-helix-coiled-coil-helix domain containing 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/chchd2

Vancouver

Dante Labs. CHCHD2 gene: coiled-coil-helix-coiled-coil-helix domain containing 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/chchd2

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