Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	158983
Gene name	H2B.W histone 1
Gene symbol	H2BW1
Synonyms (NCBI Gene)	H2BFWTTH2B-175
Chromosome	X
Chromosome location	Xq22.2
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

15 Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	IDA	15475252
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000786	Component	Nucleosome	IDA	16449661
GO:0000786	Component	Nucleosome	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IDA	15475252, 16449661
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0007076	Process	Mitotic chromosome condensation	IDA	16449661
GO:0016020	Component	Membrane	IEA
GO:0030527	Function	Structural constituent of chromatin	IDA	15475252, 16449661
GO:0030527	Function	Structural constituent of chromatin	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA

MIM	HGNC	e!Ensembl
300507	27252	ENSG00000123569

Q7Z2G1

Protein name

Histone H2B type W-T (H2B histone family member W testis-specific) (H2B.W histone 1)

Protein function

Atypical histone H2B that can form nucleosomes structurally and dynamically indistinguishable from those containing conventional H2B. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which r

PDB

8JCC , 8JCD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00125	Histone	23 → 145	Core histone H2A/H2B/H3/H4	Domain

Tissue specificity

TISSUE SPECIFICITY: Testis-specific (at protein level). {ECO:0000269|PubMed:15475252, ECO:0000269|PubMed:19583817}.

Sequence

MLRTEVPRLPRSTTAIVWSCHLMATASAMAGPSSETTSEEQLITQEPKEANSTTSQKQSK
QRKRGRHGPRRCHSNCRGDSFATYFRRVLKQVHQGLSLSREAVSVMDSLVHDILDRIATE
AGRLARSTKRQTITAWETRMAVRLLLPGQMGKLAESEGTKAVLRTSLYAIQQQRK

Sequence length

175

Interactions

View interactions

KEGG Pathway
Neutrophil extracellular trap formation
Alcoholism
Viral carcinogenesis
Systemic lupus erythematosus

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
H2BW1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Azoospermia	Azoospermia	Pubtator	19583817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	22509975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	19583817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	22509975		★★★★★ ★☆☆☆☆ Found in Text Mining only

Diseases Linked via Similar Genes Diseases curated for genes most similar to H2BW1 (see Related Genes above), that are NOT already directly curated for H2BW1 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to H2BW1.

H2BW1 (H2B.W histone 1)

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