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Aliases for HIGD2A Gene

Aliases for HIGD2A Gene

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

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. Diseases associated with HIGD2A include Hypoxia. An important paralog of this gene is HIGD2B.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for HIGD2A Gene

Genomics for HIGD2A Gene

GeneHancer (GH) Regulatory Elements for HIGD2A Gene

Promoters and enhancers for HIGD2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I176386 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 574.7 -0.3 -325 4.1 CLOCK FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SP3 HIGD2A NOP16 FAF2 ENSG00000251414 ENSG00000250909 NSD1 RPL21P60 UIMC1 MXD3 ZNF346
GH05I176410 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 19.3 +26.2 26169 8.8 PKNOX1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZNF207 ZNF143 FOS CLTB ENSG00000251414 FAF2 HIGD2A ARL10 NOP16 UIMC1 ENSG00000250909 MIR1271 KIAA1191
GH05I176360 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.1 -27.3 -27274 2.1 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 KIAA1191 GC05M176181 PIR38474 FAF2 FAM153B MXD3 HIGD2A PRELID1 SIMC1 ENSG00000251414
GH05I176402 Enhancer 0.8 ENCODE dbSUPER 18.5 +15.6 15559 4 ELF3 CTCF RFX1 SAP130 BHLHE40 SIN3A USF2 MNT ELF1 RAD21 HIGD2A CLTB NOP16 ARL10
GH05I175870 Promoter/Enhancer 1.7 EPDnew Ensembl dbSUPER 7.1 -516.5 -516518 2.5 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 SLC30A9 ZNF766 ZNF143 CPLX2 FAF2 ENSG00000250909 ENSG00000251414 HIGD2A GC05M175888 PIR44146 PIR61181
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HIGD2A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HIGD2A gene promoter:

Genomic Locations for HIGD2A Gene

Genomic Locations for HIGD2A Gene
chr5:176,388,747-176,389,771
(GRCh38/hg38)
Size:
1,025 bases
Orientation:
Plus strand
chr5:175,815,748-175,816,772
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for HIGD2A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HIGD2A Gene

Domains & Families for HIGD2A Gene

Gene Families for HIGD2A Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for HIGD2A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HIGD2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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 Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , 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
extracellular 1
peroxisome 1
cytosol 1

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

SuperPathways for HIGD2A Gene

No Data Available

Interacting Proteins for HIGD2A Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000274787%0d%0a9606.ENSP00000357051%0d%0a
Selected Interacting proteins: Q9BW72-HIG2A_HUMAN ENSP00000274787 for HIGD2A Gene via IID STRING

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 :
(1) Additional mRNA sequences :
(198) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HIGD2A Gene

HIG1 hypoxia inducible domain family, member 2A:
Representative Sequences:

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 34
  • 98.74 (n)
dog
(Canis familiaris)
Mammalia LOC479281 33
  • 86.35 (n)
-- 34
  • 75 (a)
OneToMany
cow
(Bos Taurus)
Mammalia HIGD2A 33 34
  • 84.28 (n)
mouse
(Mus musculus)
Mammalia Higd2a 33 16 34
  • 81.27 (n)
rat
(Rattus norvegicus)
Mammalia Higd2a 33
  • 81.27 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 70 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves HIGD2A 33
  • 65.9 (n)
-- 34
  • 51 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia higd2a 33
  • 65.52 (n)
Str.10651 33
zebrafish
(Danio rerio)
Actinopterygii higd2a 33 34
  • 63.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9921 34
  • 49 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RCF1 36
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)

Paralogs for HIGD2A Gene

Paralogs for HIGD2A Gene

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

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
rs1003098830 -- 176,387,027(+) A/T upstream_transcript_variant
rs1004551807 -- 176,388,945(+) G/A coding_sequence_variant, synonymous_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

MalaCards: The human disease database

(1) MalaCards diseases for HIGD2A Gene - From: GeneCards

Disorder Aliases PubMed IDs
hypoxia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HIGD2A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HIGD2A: view

No data available for 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 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for HIGD2A Gene

Sources for HIGD2A Gene

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