U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

HIGD2B HIG1 hypoxia inducible domain family member 2B [ Homo sapiens (human) ]

Gene ID: 123346, updated on 17-Sep-2024

Summary

Go to the top of the page Help
Official Symbol
HIGD2Bprovided by HGNC
Official Full Name
HIG1 hypoxia inducible domain family member 2Bprovided by HGNC
Primary source
HGNC:HGNC:26984
See related
Ensembl:ENSG00000175202 AllianceGenome:HGNC:26984
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HIGD2BP
Summary
Predicted to be involved in mitochondrial respirasome assembly. Predicted to be integral component of membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 2.2) See more
Orthologs
all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See HIGD2B in Genome Data Viewer
Location:
15q24.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (72675798..72686182, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (70493133..70503533, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (72968139..72978523, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:72920983-72921575 Neighboring gene uncharacterized LOC112268145 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:72939289-72940171 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:72942597-72943114 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:72954615-72955116 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:72955117-72955616 Neighboring gene golgin A6 family member B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:72963099-72964076 Neighboring gene RNA, 7SL, cytoplasmic 853, pseudogene Neighboring gene MPRA-validated peak2381 silencer Neighboring gene Bardet-Biedl syndrome 4 Neighboring gene ADP dependent glucokinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6626 Neighboring gene ADPGK antisense RNA 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in mitochondrial respirasome assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
putative HIG1 domain family member 2B
Names
HIG1 hypoxia inducible domain family, member 2B (pseudogene)

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001350932.3 → NP_001337861.1  putative HIG1 domain family member 2B

    Status: VALIDATED

    Source sequence(s)
    AC009712, BC040890
    Consensus CDS
    CCDS86473.1
    UniProtKB/Swiss-Prot
    Q4VC39
    Related
    ENSP00000307951.3, ENST00000311755.6
    Conserved Domains (1) summary
    pfam04588
    Location:47 → 94
    HIG_1_N; Hypoxia induced protein conserved region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    72675798..72686182 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449842.2 → XP_024305610.1  putative HIG1 domain family member 2B isoform X1

    UniProtKB/Swiss-Prot
    Q4VC39
    Conserved Domains (1) summary
    pfam04588
    Location:47 → 94
    HIG_1_N; Hypoxia induced protein conserved region

  2. XM_024449841.2 → XP_024305609.1  putative HIG1 domain family member 2B isoform X1

    UniProtKB/Swiss-Prot
    Q4VC39
    Conserved Domains (1) summary
    pfam04588
    Location:47 → 94
    HIG_1_N; Hypoxia induced protein conserved region

  3. XM_024449840.2 → XP_024305608.1  putative HIG1 domain family member 2B isoform X1

    UniProtKB/Swiss-Prot
    Q4VC39
    Conserved Domains (1) summary
    pfam04588
    Location:47 → 94
    HIG_1_N; Hypoxia induced protein conserved region

  4. XM_024449839.2 → XP_024305607.1  putative HIG1 domain family member 2B isoform X1

    UniProtKB/Swiss-Prot
    Q4VC39
    Conserved Domains (1) summary
    pfam04588
    Location:47 → 94
    HIG_1_N; Hypoxia induced protein conserved region

  5. XM_024449837.2 → XP_024305605.1  putative HIG1 domain family member 2B isoform X1

    UniProtKB/Swiss-Prot
    Q4VC39
    Conserved Domains (1) summary
    pfam04588
    Location:47 → 94
    HIG_1_N; Hypoxia induced protein conserved region

  6. XM_024449838.2 → XP_024305606.1  putative HIG1 domain family member 2B isoform X1

    UniProtKB/Swiss-Prot
    Q4VC39
    Conserved Domains (1) summary
    pfam04588
    Location:47 → 94
    HIG_1_N; Hypoxia induced protein conserved region

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    70493133..70503533 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377270.1 → XP_054233245.1  putative HIG1 domain family member 2B isoform X1

    UniProtKB/Swiss-Prot
    Q4VC39

  2. XM_054377267.1 → XP_054233242.1  putative HIG1 domain family member 2B isoform X1

    UniProtKB/Swiss-Prot
    Q4VC39

  3. XM_054377268.1 → XP_054233243.1  putative HIG1 domain family member 2B isoform X1

    UniProtKB/Swiss-Prot
    Q4VC39

  4. XM_054377269.1 → XP_054233244.1  putative HIG1 domain family member 2B isoform X1

    UniProtKB/Swiss-Prot
    Q4VC39

  5. XM_054377272.1 → XP_054233247.1  putative HIG1 domain family member 2B isoform X1

    UniProtKB/Swiss-Prot
    Q4VC39

  6. XM_054377271.1 → XP_054233246.1  putative HIG1 domain family member 2B isoform X1

    UniProtKB/Swiss-Prot
    Q4VC39

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001017925.1: Suppressed sequence

    Description
    NM_001017925.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4VC39.1 GenPept UniProtKB/Swiss-Prot:Q4VC39

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials