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 condi... See more...

Aliases for HIGD2A Gene

Aliases for HIGD2A Gene

  • HIG1 Hypoxia Inducible Domain Family Member 2A 2 3 5
  • HIG1 Domain Family Member 2A, Mitochondrial 3 4
  • HIG1 Domain Family, Member 2A 2 3
  • RCF1 Homolog B 3 4
  • RCF1b 3 4
  • HIG1 Hypoxia Inducible Domain Family, Member 2A 2

External Ids for HIGD2A Gene

Previous GeneCards Identifiers for HIGD2A Gene

  • GC05P175749
  • GC05P175750
  • GC05P175815
  • GC05P170740

Summaries for HIGD2A Gene

Entrez Gene Summary for HIGD2A 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]

GeneCards Summary for HIGD2A Gene

HIGD2A (HIG1 Hypoxia Inducible Domain Family Member 2A) is a Protein Coding gene. An important paralog of this gene is HIGD2B.

UniProtKB/Swiss-Prot Summary for HIGD2A Gene

  • Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May be involved in cytochrome c oxidase activity. May play a role in the assembly of respiratory supercomplexes.

Additional gene information for HIGD2A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HIGD2A Gene

Genomics for HIGD2A Gene

GeneHancer (GH) Regulatory Elements for HIGD2A Gene

Promoters and enhancers for HIGD2A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HIGD2A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HIGD2A gene promoter:
  • AP-2rep
  • AREB6
  • CUTL1
  • E2F
  • E2F-1
  • E47
  • Egr-2
  • GATA-2
  • HFH-1
  • Tal-1

Genomic Locations for HIGD2A Gene

Genomic Locations for HIGD2A Gene
chr5:176,388,751-176,389,761
(GRCh38/hg38)
Size:
1,011 bases
Orientation:
Plus strand
chr5:175,815,748-175,816,772
(GRCh37/hg19)
Size:
1,025 bases
Orientation:
Plus strand

Genomic View for HIGD2A Gene

Genes around HIGD2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIGD2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIGD2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIGD2A Gene

Proteins for HIGD2A Gene

  • Protein details for HIGD2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BW72-HIG2A_HUMAN
    Recommended name:
    HIG1 domain family member 2A, mitochondrial
    Protein Accession:
    Q9BW72

    Protein attributes for HIGD2A Gene

    Size:
    106 amino acids
    Molecular mass:
    11529 Da
    Quaternary structure:
    • Associates with cytochrome c oxidase (COX, complex IV); proposed complex component.

neXtProt entry for HIGD2A Gene

Post-translational modifications for HIGD2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HIGD2A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for HIGD2A

No data available for DME Specific Peptides for HIGD2A Gene

Domains & Families for HIGD2A Gene

Gene Families for HIGD2A Gene

Protein Domains for HIGD2A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HIGD2A Gene

GenScript: Design optimal peptide antigens:
  • HIG1 domain family member 2A (HIG2A_HUMAN)
genes like me logo Genes that share domains with HIGD2A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HIGD2A Gene

Function for HIGD2A Gene

Molecular function for HIGD2A Gene

UniProtKB/Swiss-Prot Function:
Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May be involved in cytochrome c oxidase activity. May play a role in the assembly of respiratory supercomplexes.

Phenotypes From GWAS Catalog for HIGD2A Gene

genes like me logo Genes that share phenotypes with HIGD2A: view

Animal Models for HIGD2A Gene

MGI Knock Outs for HIGD2A:
  • Higd2a Higd2a<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HIGD2A Gene

Localization for HIGD2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIGD2A Gene

Mitochondrion membrane; Multi-pass membrane protein. Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HIGD2A gene
Compartment Confidence
mitochondrion 4
plasma membrane 1
cytosol 1
extracellular 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HIGD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
GO:0070469 respiratory chain IEA --
genes like me logo Genes that share ontologies with HIGD2A: view

Pathways & Interactions for HIGD2A Gene

PathCards logo

SuperPathways for HIGD2A Gene

No Data Available

Interacting Proteins for HIGD2A Gene

Gene Ontology (GO) - Biological Process for HIGD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043066 negative regulation of apoptotic process IDA 21856340
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HIGD2A: view

No data available for Pathways by source and SIGNOR curated interactions for HIGD2A Gene

Drugs & Compounds for HIGD2A Gene

No Compound Related Data Available

Transcripts for HIGD2A Gene

mRNA/cDNA for HIGD2A Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(198) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIGD2A Gene

No ASD Table

Relevant External Links for HIGD2A Gene

GeneLoc Exon Structure for
HIGD2A
ECgene alternative splicing isoforms for
HIGD2A

Expression for HIGD2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HIGD2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HIGD2A Gene

This gene is overexpressed in Heart (12.1), Blymphocyte (9.6), Ovary (7.6), and Fetal heart (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HIGD2A Gene



NURSA nuclear receptor signaling pathways regulating expression of HIGD2A Gene:

HIGD2A

SOURCE GeneReport for Unigene cluster for HIGD2A Gene:

Hs.534575

Evidence on tissue expression from TISSUES for HIGD2A Gene

  • Muscle(4.6)
  • Skin(4.3)
  • Heart(2.3)
  • Kidney(2.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with HIGD2A: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIGD2A Gene

Orthologs for HIGD2A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HIGD2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HIGD2A 33 32
  • 98.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC479281 32
  • 86.35 (n)
-- 33
  • 75 (a)
OneToMany
cow
(Bos Taurus)
Mammalia HIGD2A 33 32
  • 84.28 (n)
OneToMany
mouse
(Mus musculus)
Mammalia Higd2a 17 33 32
  • 81.27 (n)
rat
(Rattus norvegicus)
Mammalia Higd2a 32
  • 81.27 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 70 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves HIGD2A 32
  • 65.9 (n)
-- 33
  • 51 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia higd2a 32
  • 65.52 (n)
Str.10651 32
zebrafish
(Danio rerio)
Actinopterygii higd2a 33 32
  • 63.95 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9921 33
  • 49 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RCF1 35
Species where no ortholog for HIGD2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HIGD2A Gene

ENSEMBL:
Gene Tree for HIGD2A (if available)
TreeFam:
Gene Tree for HIGD2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HIGD2A: view image

Paralogs for HIGD2A Gene

Paralogs for HIGD2A Gene

(4) SIMAP similar genes for HIGD2A Gene using alignment to 1 proteins:

  • HIG2A_HUMAN

Pseudogenes.org Pseudogenes for HIGD2A Gene

genes like me logo Genes that share paralogs with HIGD2A: view

Variants for HIGD2A Gene

Sequence variations from dbSNP and Humsavar for HIGD2A Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000459344 -- 176,389,670(+) T/C 3_prime_UTR_variant
rs1001320589 -- 176,389,600(+) C/T 3_prime_UTR_variant
rs1001629098 -- 176,387,265(+) A/G upstream_transcript_variant
rs1002462273 -- 176,386,761(+) A/C upstream_transcript_variant
rs1003098830 -- 176,387,027(+) A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for HIGD2A Gene

Variant ID Type Subtype PubMed ID
nsv1023853 CNV gain 25217958

Variation tolerance for HIGD2A Gene

Residual Variation Intolerance Score: 35.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.07; 1.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIGD2A Gene

Human Gene Mutation Database (HGMD)
HIGD2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIGD2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIGD2A Gene

Disorders for HIGD2A Gene

Additional Disease Information for HIGD2A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for HIGD2A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HIGD2A Gene

Publications for HIGD2A Gene

  1. Rcf1 mediates cytochrome oxidase assembly and respirasome formation, revealing heterogeneity of the enzyme complex. (PMID: 22342701) Vukotic M … Deckers M (Cell metabolism 2012) 2 3 4 56
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for HIGD2A Gene

Sources for HIGD2A Gene