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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HIGD2A
HIG1 hypoxia inducible domain family member 2A
Chromosome 5 · 5q35.2
NCBI Gene: 192286Ensembl: ENSG00000146066.3HGNC: HGNC:28311UniProt: Q9BW72
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of apoptotic processmitochondrionmitochondrial respirasome assemblymitochondrial inner membraneneurodegenerative diseasehepatocellular carcinomacancerneoplasm
✦AI Summary

HIGD2A encodes a mitochondrial assembly factor that functions as a critical component in the biogenesis of cytochrome c oxidase (complex IV) and respiratory chain supercomplexes. As a structural subunit of complex IV, HIGD2A specifically controls assembly of the COX3 module and acts as a placeholder factor during the final maturation steps of complex IV, being replaced by NDUFA4 during respirasome assembly 1 2. HIGD2A's expression is dynamically regulated by hypoxia, glucose availability, and cell cycle progression through E2F1-mediated transcriptional control, enabling metabolic adaptation to environmental stress 3 4. Loss of HIGD2A leads to defective complex IV biogenesis, accumulation of assembly intermediates, reduced complex IV activity, and altered mitochondrial dynamics, including increased OPA1-mediated fusion and decreased FIS1-mediated fission 5 3. While HIGD2A is not directly implicated in cancer through mutations, its altered expression and DNA methylation patterns occur across multiple malignancies, particularly in Diffuse Large B-cell Lymphoma, suggesting involvement in cancer-associated metabolic reprogramming 6. HIGD2A also functions in skin barrier maintenance and asthma pathogenesis, with upregulation detected in allergic asthma 7. These findings establish HIGD2A as a multifunctional assembly factor essential for respiratory chain supercomplex biogenesis and cellular energetics.

Sources cited
1
HIGD2A controls and coordinates modular assembly of complex IV by acting on the COX3 assembly module and has both independent and overlapping functions with HIGD1A
PMID: 32375044
2
HIGD2A expression is dependent on oxygen and glucose levels; HIG2A promotes cell survival under hypoxia; HIGD2A shows altered methylation and expression in cancer, particularly DLBCL
PMID: 32085461
3
HIGD2A expression is regulated by hypoxia, glucose, and E2F1; HIGD2A silencing modulates mitochondrial dynamics proteins OPA1 and FIS1
PMID: 30779122
4
HIGD2A expression is induced under stress conditions like hypoxia and low glucose; HIGD proteins localize to mitochondrial inner membrane and regulate CIV biogenesis
PMID: 33291261
5
HIGD2A is required for de novo biogenesis of COX3 and complex IV assembly; its loss leads to defective complex IV activity and accumulation of intermediates
PMID: 32317297
6
HIGD2A is a component of complex IV within the electron transport chain and contributes to metabolic regulation in cancer cells
PMID: 38739449
7
HIGD2A is upregulated as a mitochondrial-related gene in skin of children with allergic asthma
PMID: 38375886
8
HIGD2A functions as a placeholder factor within complex IV that is replaced by NDUFA4 during the final maturation step of CIV and respirasome assembly
PMID: 41519940
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.13Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
diffuse large B-cell lymphomaOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
liver cancerOpen Targets
0.02Suggestive
Invasive Breast CarcinomaOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
pancreatic adenocarcinomaOpen Targets
0.01Suggestive
prostate adenocarcinomaOpen Targets
0.01Suggestive
cutaneous melanomaOpen Targets
0.01Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.01Suggestive
Uveal MelanomaOpen Targets
0.01Suggestive
esophageal adenocarcinomaOpen Targets
0.00Suggestive
head and neck squamous cell carcinomaOpen Targets
0.00Suggestive
Ischemic strokeOpen Targets
0.00Suggestive
polyarteritis nodosaOpen Targets
0.00Suggestive
readingOpen Targets
0.00Suggestive
rectal adenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HIGD1AShared pathway100%COX5BProtein interaction100%COX6A2Protein interaction94%COX14Protein interaction79%TOMM6Protein interaction78%HIGD1BShared pathway50%
Tissue Expression6 tissues
Heart
100%
Liver
55%
Lung
42%
Brain
42%
Ovary
42%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
HIGD2AHIGD1ACOX5BCOX6A2COX14TOMM6HIGD1B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BW72
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.37LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.66 [0.34–1.37]
RankingsWhere HIGD2A stands among ~20K protein-coding genes
  • #12,578of 20,598
    Most Researched27
  • #14,267of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedHIGD2A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Distinct Roles of Mitochondrial HIGD1A and HIGD2A in Respiratory Complex and Supercomplex Biogenesis.
PMID: 32375044
Cell Rep · 2020
1.00
2
Biosystem Analysis of the Hypoxia Inducible Domain Family Member 2A: Implications in Cancer Biology.
PMID: 32085461
Genes (Basel) · 2020
0.90
3
The OXPHOS supercomplex assembly factor HIG2A responds to changes in energetic metabolism and cell cycle.
PMID: 30779122
J Cell Physiol · 2019
0.80
4
HIGD-Driven Regulation of Cytochrome
PMID: 33291261
Cells · 2020
0.70
5
HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.
PMID: 32317297
Mol Cell Proteomics · 2020
0.60