CHCHD2

Chr 7p11.2

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

Aliases:: MIX17B, MNRR1
MANE:: ENST00000395422.4

OMIM: 616244 ↗NCBI: 51142 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CHCHD2 · Q9Y6H1

v62025-08-01

Predicted Aligned Error matrix for CHCHD2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.9/ 100

Low

151 residues

Confidence breakdown

Very high(≥ 90)13%
Confident(70–90)18%
Low(50–70)44%
Very low(< 50)26%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Parkinson Disease and Complex Parkinsonism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Parkinson disease 22, autosomal dominant
0.58
neuropathy
0.17
Parkinson disease
0.12
non-small cell lung carcinoma
0.09
breast cancer
0.09
Huntington disease
0.08
hepatocellular carcinoma
0.08
amyotrophic lateral sclerosis
0.08
glioblastoma
0.08
metabolic dysfunction-associated steatohepatitis
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Coiled-coil-helix-coiled-coil-helix domain-containing protein 2

Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788)