H2BW1 H2B.W histone 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: H2BW1provided by HGNC
Official Full Name: H2B.W histone 1provided by HGNC
Primary source: HGNC:HGNC:27252
See related: Ensembl:ENSG00000123569 MIM:300507; AllianceGenome:HGNC:27252
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: H2BFWT; TH2B-175
Summary: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the H2B histone family that is specifically expressed in sperm nuclei. A polymorphism in the 5' UTR of this gene is associated with male infertility.[provided by RefSeq, Oct 2015]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: Xq22.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (104011147..104013708, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (102466207..102468768)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (103265719..103268280, complement)

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

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impact of tobacco smoking in association with H2BFWT, PRM1 and PRM2 genes variants on male infertility.
Title: Impact of tobacco smoking in association with H2BFWT, PRM1 and PRM2 genes variants on male infertility.
Tobacco smoking and its impact on the expression level of sperm nuclear protein genes: H2BFWT, TNP1, TNP2, PRM1 and PRM2.
Title: Tobacco smoking and its impact on the expression level of sperm nuclear protein genes: H2BFWT, TNP1, TNP2, PRM1 and PRM2.
the association of -9C>T and 368A>G polymorphisms in H2BFWT gene with male infertility risk was assessed through a case-control and meta-analysis
Title: Association between two common transitions of H2BFWT gene and male infertility: a case-control, meta, and structural analysis.
It is concluded that H2BFWT gene c.-9C>T and c.368A>G polymorphisms might be genetic risk factors for idiopathic male infertility.
Title: Association of the c.-9C>T and c.368A>G transitions in H2BFWT gene with male infertility in an Iranian population.
Data indicate that the polymorphism -9C>T and 368A>G in H2BFWT gene are associated with male infertility with idiopathic azoospermia or oligozoospermia, suggesting susceptibility of H2BFWT gene to spermatogenesis impairment in Chinese population.
Title: Relationship of SNP of H2BFWT gene to male infertility in a Chinese population with idiopathic spermatogenesis impairment.
Observational study of gene-disease association. (HuGE Navigator)
Title: Functional polymorphism in H2BFWT-5'UTR is associated with susceptibility to male infertility.

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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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
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	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
NOT involved_in mitotic chromosome condensation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
part_of nucleosome	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: histone H2B type W-T

Names: H2B histone family member W, testis specific

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.

Genomic

NG_016406.2 RefSeqGene

Range

4981..7542

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001002916.5 → NP_001002916.4 histone H2B type W-T

Status: REVIEWED

Source sequence(s)

AC234782

Consensus CDS

CCDS35362.2

UniProtKB/Swiss-Prot

B1AK72, Q147W3, Q7Z2G1

Related

ENSP00000354723.5, ENST00000217926.7

Conserved Domains (1) summary

cl23830
Location:25 → 138

H2B; Histone H2B