Aliases for HIGD2A Gene
Aliases for HIGD2A Gene
External Ids for HIGD2A Gene
- HGNC: 28311
- Entrez Gene: 192286
- Ensembl: ENSG00000146066
- UniProtKB: Q9BW72
Previous GeneCards Identifiers for HIGD2A Gene
- GC05P175749
- GC05P175750
- GC05P175815
- GC05P170740
Summaries 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.
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
Regulatory Elements for HIGD2A Gene
Enhancers for HIGD2A Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH05G176386 | 1.4 | ENCODE dbSUPER | 24.6 | -0.3 | -325 | 4.1 | CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC | HIGD2A FAF2 MXD3 ENSG00000251414 ENSG00000250909 ZNF346 RPL21P60 ZNF346-IT1 CLTB NOP16 |
| GH05G176410 | 1.6 | Ensembl ENCODE dbSUPER | 19.3 | +26.2 | 26170 | 8.8 | PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF143 ZNF207 | ENSG00000251414 FAF2 HIGD2A ARL10 NOP16 ENSG00000250909 MIR1271 KIAA1191 CDHR2 RN7SL684P |
| GH05G176402 | 1 | ENCODE dbSUPER | 18.5 | +15.6 | 15560 | 4.0 | ELF3 CTCF RFX1 SAP130 BHLHE40 USF2 MNT RAD21 EP300 TEAD3 | HIGD2A CLTB NOP16 |
| GH05G176380 | 0.8 | dbSUPER | 21.9 | -6.7 | -6658 | 2.2 | ZBTB21 SIN3A GATA3 ZFHX2 CTBP1 ZNF366 ZBTB48 POLR2A SCRT2 FOS | HIGD2A CLTB GC05P176381 |
| GH05G176400 | 0.8 | ENCODE dbSUPER | 19.7 | +12.4 | 12401 | 1.9 | USF1 KLF1 RAD51 NFYC KLF17 KLF4 | HIGD2A CLTB NOP16 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HIGD2A on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for HIGD2A Gene
- Chromosome:
- 5
- Start:
- 176,388,747 bp from pter
- End:
- 176,389,771 bp from pter
- 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:
-
- 5q35.2 by Ensembl
- 5q35.2 by Entrez Gene
- 5q35.2 by HGNC
HIGD2A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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.
Protein Expression for HIGD2A Gene
Post-translational modifications for HIGD2A Gene
Other Protein References for HIGD2A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
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Protein Products
-
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Assay Products
No data available for DME Specific Peptides for HIGD2A Gene
Domains & Families for HIGD2A Gene
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
No data available for Gene Families 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 for HIGD2A Gene
- GenomeRNAi human phenotypes for HIGD2A:
-
- Increased viability
- Synthetic lethal with Ras
- Dynamic nuclei (hole, folded or small irregular)
- Decreased viability after Maraba virus infection
- Downregulation of NF-kappaB pathway after LMP1 stimulation
- Increased HPV18 LCR reporter activity
- Decreased shRNA abundance
- Downregulation of NF-kappaB pathway after TNFalpha stimulation
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HIGD2A gene
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CRISPR Products
-
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-
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miRNA for HIGD2A Gene
- miRTarBase miRNAs that target HIGD2A
miRNA Products
- Search ViGene Biosciences for HIGD2A
Inhibitory RNA Products
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Clone Products
-
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Cell Line Products
-
Horizon Cell Lines for HIGD2A
-
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-
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Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 4 |
| plasma membrane | 1 |
| extracellular | 1 |
| peroxisome | 1 |
| cytosol | 1 |
| 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 | -- |
Pathways & Interactions for HIGD2A Gene
No Data Available
Interacting Proteins 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for HIGD2A Gene
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
CRISPR Products
-
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-
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miRNA Products
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Inhibitory RNA Products
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-
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Flow Cytometry Products
Expression for HIGD2A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Intestine (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Testis (Reproductive System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
-
Ovary (Reproductive System)
-
Adipose (Muscoskeletal System)
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:
HIGD2ASOURCE GeneReport for Unigene cluster for HIGD2A Gene:
Hs.534575Evidence on tissue expression from TISSUES for HIGD2A Gene
- Muscle(4.6)
- Skin(4.3)
- Heart(2.3)
- Kidney(2.1)
- Spleen(2)
Primer Products
-
OriGene qPCR primer pairs for HIGD2A
-
OriGene qPCR primer pairs and template standards for HIGD2A
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HIGD2A 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | LOC479281 34 |
|
||
| -- 35 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | HIGD2A 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Higd2a 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Higd2a 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | HIGD2A 34 |
|
||
| -- 35 |
|
OneToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | higd2a 34 |
|
||
| Str.10651 34 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | higd2a 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG9921 35 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RCF1 37 |
|
|
- 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)
Paralogs for HIGD2A Gene
(4) SIMAP similar genes for HIGD2A Gene using alignment to 1 proteins:
Pseudogenes.org Pseudogenes for HIGD2A Gene
Variants for HIGD2A Gene
| SNP ID | Clin | Chr 05 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000459344 | -- | 176,389,670(+) | CTAGA(C/T)GCTGT | intron-variant, upstream-variant-2KB, utr-variant-3-prime | |
| rs1001320589 | -- | 176,389,600(+) | AGAGG(C/T)CCATG | intron-variant, upstream-variant-2KB, utr-variant-3-prime | |
| rs1001629098 | -- | 176,387,265(+) | AGTAG(A/G)GATGG | intron-variant, upstream-variant-2KB | |
| rs1002462273 | -- | 176,386,761(+) | TGCAA(A/C)ATGAG | intron-variant, upstream-variant-2KB | |
| rs1003098830 | -- | 176,387,027(+) | GTAGA(A/T)GTAGG | intron-variant, upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1023853 | CNV | gain | 25217958 |
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)
Relevant External Links for HIGD2A Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIGD2A Gene
Disorders for HIGD2A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypoxia |
|
|
Search HIGD2A in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HIGD2A
No data available for UniProtKB/Swiss-Prot and Genatlas for HIGD2A Gene
Publications for HIGD2A Gene
- Rcf1 mediates cytochrome oxidase assembly and respirasome formation, revealing heterogeneity of the enzyme complex. (PMID: 22342701) Vukotic M. … Deckers M. (Cell Metab. 2012) 2 3 4 64
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
- N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64
Products for HIGD2A Gene
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- Yeast expression
Sources for HIGD2A Gene
- (1) GeneCards
- (2) HGNC
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- (74) Cloud-Clone Corp.
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