HIGD2A
HIG1 domain family member 2A, mitochondrial
Also known as: HIG2A_HUMAN, MGC2198, RCF1B
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BW72
- Gene
- HIGD2A
- Ensembl
- ENSG00000146066
- Chromosome
- 5
- Canonical length
- 106 aa
- Protein class
- Metabolic proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Mitochondria,Cytosol
OverviewNCBI Gene
The protein encoded by this gene is a subunit of the cytochrome c oxidase complex (complex IV), which is the terminal enzyme in the mitochondrial respiratory chain. The encoded protein is an inner mitochondrial membrane protein and is a functional ortholog of the yeast respiratory supercomplex factor 1 (Rcf1). In mouse, the orthologous protein enhances cell survival under conditions of hypoxia. [provided by RefSeq, Sep 2016]
Canonical amino-acid sequenceUniProt
106 residues, UniProt reviewed canonical sequence.
>Q9BW72|HIGD2A
1 MATPGPVIPE VPFEPSKPPV IEGLSPTVYR NPESFKEKFV RKTRENPVVP IGCLATAAAL
61 TYGLYSFHRG NSQRSQLMMR TRIAAQGFTV AAILLGLAVT AMKSRPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HIGD2A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.58
- Highest tissue expression
- 424 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 424 nTPM
- heart muscle: 311 nTPM
- tongue: 278 nTPM
- choroid plexus: 267 nTPM
- kidney: 199 nTPM
- colon: 196 nTPM
Single-cell type
- parietal cells: 104 nCPM
- gastric chief cells: 58 nCPM
- mucous neck cells: 44 nCPM
- suprabasal keratinocytes: 33 nCPM
- endometrial secretory cells: 33 nCPM
- basal keratinocytes: 30 nCPM
Immune cell
- non-classical monocyte: 1,031 nTPM
- intermediate monocyte: 978 nTPM
- total PBMC: 972 nTPM
- myeloid DC: 932 nTPM
- classical monocyte: 746 nTPM
- T-reg: 624 nTPM
Brain region
- choroid plexus: 148 nTPM
- thalamus: 110 nTPM
- cerebellum: 104 nTPM
- spinal cord: 102 nTPM
- hypothalamus: 101 nTPM
- basal ganglia: 100 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.57
- gnomAD pLI
- 0.19
- gnomAD missense Z
- 0.4
- DepMap mean gene effect
- -0.37
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HIGD2A as an antibody target. Whether an autoantibody or antibody against HIGD2A could matter depends on whether native HIGD2A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HIGD2A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label HIGD2A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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