HIGD2A HIG1 hypoxia inducible domain family member 2A [Homo sapiens (human)] - Gene

Summary

Official Symbol: HIGD2Aprovided by HGNC
Official Full Name: HIG1 hypoxia inducible domain family member 2Aprovided by HGNC
Primary source: HGNC:HGNC:28311
See related: Ensembl:ENSG00000146066 MIM:620788; AllianceGenome:HGNC:28311
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HIG2A; RCF1b
Summary: 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]
Expression: Ubiquitous expression in heart (RPKM 70.3), colon (RPKM 67.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q35.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (176388751..176389761)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (176933109..176934119)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (175815752..175816762)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dynamic Distribution of HIG2A between the Mitochondria and the Nucleus in Response to Hypoxia and Oxidative Stress.
Title: Dynamic Distribution of HIG2A between the Mitochondria and the Nucleus in Response to Hypoxia and Oxidative Stress.
HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.
Title: HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.
Biosystem Analysis of the Hypoxia Inducible Domain Family Member 2A: Implications in Cancer Biology.
Title: Biosystem Analysis of the Hypoxia Inducible Domain Family Member 2A: Implications in Cancer Biology.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G22291 (e-PCR)
- UniSTS:45171

D5S1586E (e-PCR)
- UniSTS:151011

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in mitochondrial respirasome assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: HIG1 domain family member 2A, mitochondrial

Names: HIG1 domain family, member 2A; RCF1 homolog B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.