H2AB2 H2A.B variant histone 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: H2AB2provided by HGNC
Official Full Name: H2A.B variant histone 2provided by HGNC
Primary source: HGNC:HGNC:18298
See related: Ensembl:ENSG00000277858 MIM:301038; AllianceGenome:HGNC:18298
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: H2AB3; H2AFB2; H2A.B.1; 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]
Orthologs: all
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Genomic context

Location:: Xq28

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (155380709..155381299)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (153618719..153619309)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (154610358..154610948)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Changes in exon inclusion rates and increased presence of intronic sequences in mRNA products upon H2A.Bbd depletion.
Title: Histone variant H2A.Bbd is associated with active transcription and mRNA processing in human cells.

Submit: New GeneRIF Correction

Phenotypes

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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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables structural constituent of chromatin	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of chromatin	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleosome assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in euchromatin	IDA Inferred from Direct Assay more info	PubMed
part_of nucleosome	IBA Inferred from Biological aspect of Ancestor more info
part_of nucleosome	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: histone H2A-Bbd type 2/3

Names: H2A Barr body deficient; H2A histone family member B2

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.