COA4 - cytochrome c oxidase assembly factor 4 homolog Gene

Also Known as CMC3; E2IG2; CHCHD8

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51287

About COA4

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:73,872,667-73,876,846 (from NCBI)

This gene has 6 transcripts (splice variants) and 148 orthologues. Ubiquitous expression in adrenal (RPKM 9.0), thyroid (RPKM 7.6) and 25 other tissues.

Summary

Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

COA4 Products (1)

mRNA Protein Name
NM_016565.3 NP_057649.2 cytochrome c oxidase assembly factor 4 homolog, mitochondrial
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
33961781 GOA
Cellular Component GO Annotation Evidence Références Source
located in mitochondrion IDA
IDA: Inferred from direct assay
23676665 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COA4 Protein Structure

CHCH

CHCH: CHCH domain (34 - 66)

  • 0
  • 87 a.a.
Protein Preferred Names Protein Names

cytochrome c oxidase assembly factor 4 homolog, mitochondrial

  • E2-induced gene 2 protein

COA4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
COA4 Q9NYJ1 COX11 Homo sapiens Q9Y6N1 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Mohr-Tranebjaerg Syndrome
  • Deafness-Dystonia-Optic Neuronopathy Syndrome

  • Jensen Syndrome

  • Deafness Dystonia Syndrome

  • MTS

  • Dds

  • Deafness-Dystonia-Optic Atrophy Syndrome

  • Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency

  • Opticoacoustic Nerve Atrophy With Dementia

  • Dystonia-Deafness Syndrome

  • Ddp

  • Ddon Syndrome

  • Mohr-Tranebjærg Syndrome

  • Deafness Dystonia Optic Atrophy Syndrome

  • Deafness Dystonia Optic Neuronopathy Syndrome

  • Dystonia Deafness Syndrome

  • Ddon

  • Deafness - Dystonia - Optic Neuronopathy Syndrome

  • Deafness-Dystonia-Optic Neuronopathy Syndrome

  • Hearing Loss-Dystonia-Optic Neuronopathy Syndrome

  • Dfn-1

  • X-Linked Progressive Deafness Type 1

Leigh Syndrome
  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus COA4 MGD MGI:1915435
Rattus norvegicus COA4 RGD RGD:1562228
Felis catus COA4 VGNC VGNC:61042
Bos taurus COA4 VGNC VGNC:106696
Macaca mulatta COA4 VGNC VGNC:71340
Others COA4 NCBI