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

Gene ID: 192286, updated on 1-Mar-2024

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 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
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
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Genomic context

See HIGD2A in Genome Data Viewer
Location:
5q35.2
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (176388751..176389761)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (176933109..176934119)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (175815752..175816762)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene microRNA 1271 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:175805661-175805825 Neighboring gene ADP ribosylation factor like GTPase 10 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:175815238-175816437 Neighboring gene NOP16 nucleolar protein Neighboring gene clathrin light chain B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16652 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16650 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:175861163-175861909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23686 Neighboring gene uncharacterized LOC124901142 Neighboring gene Fas associated factor family member 2

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

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.

mRNA and Protein(s)

  1. NM_138820.4NP_620175.1  HIG1 domain family member 2A, mitochondrial

    See identical proteins and their annotated locations for NP_620175.1

    Status: REVIEWED

    Source sequence(s)
    AW473735, BC007502, BQ671009
    Consensus CDS
    CCDS4401.1
    UniProtKB/Swiss-Prot
    Q9BW72
    Related
    ENSP00000274787.2, ENST00000274787.3
    Conserved Domains (1) summary
    pfam04588
    Location:4794
    HIG_1_N; Hypoxia induced protein conserved region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    176388751..176389761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    176933109..176934119
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)