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H2AFB2 H2A histone family member B2 [ Homo sapiens (human) ]

Gene ID: 474381, updated on 17-Jun-2019

Summary

Official Symbol
H2AFB2provided by HGNC
Official Full Name
H2A histone family member B2provided by HGNC
Primary source
HGNC:HGNC:18298
See related
Ensembl:ENSG00000277858
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
H2A.Bbd
Summary
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. [provided by RefSeq, Oct 2015]

Genomic context

See H2AFB2 in Genome Data Viewer
Location:
Xq28
Exon count:
1
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (155380706..155381299)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154610355..154610948)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene chloride intracellular channel 2 Neighboring gene PHD finger protein 10 pseudogene 1 Neighboring gene uncharacterized LOC101927830 Neighboring gene trimethyllysine hydroxylase, epsilon pseudogene Neighboring gene int22h-2 recombination region Neighboring gene microRNA 1184-2 Neighboring gene coagulation factor VIII associated 2 Neighboring gene int22h-3 recombination region Neighboring gene microRNA 1184-3 Neighboring gene coagulation factor VIII associated 3

Genomic regions, transcripts, and products

Pathways from BioSystems

  • Alcoholism, organism-specific biosystem (from KEGG)
    Alcoholism, organism-specific biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
  • Alcoholism, conserved biosystem (from KEGG)
    Alcoholism, conserved biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
  • Systemic lupus erythematosus, organism-specific biosystem (from KEGG)
    Systemic lupus erythematosus, organism-specific biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
  • Systemic lupus erythematosus, conserved biosystem (from KEGG)
    Systemic lupus erythematosus, conserved biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chromatin organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear nucleosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleus HDA PubMed 
transcriptionally active chromatin IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
histone H2A-Bbd type 2/3
Names
H2A Barr body deficient

NCBI Reference Sequences (RefSeq)

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_001017991.2NP_001017991.1  histone H2A-Bbd type 2/3

    See identical proteins and their annotated locations for NP_001017991.1

    Status: REVIEWED

    Source sequence(s)
    AC234781, HY000925
    Consensus CDS
    CCDS35461.1
    UniProtKB/Swiss-Prot
    P0C5Z0
    Related
    ENSP00000346509.4, ENST00000354514.5
    Conserved Domains (1) summary
    smart00414
    Location:21113
    H2A; Histone 2A

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    155380706..155381299
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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