• Gene id: 158983

Gene Summary

• Gene Symbol: H2BFWT   Gene   UCSC   Ensembl
• Gene name: H2B histone family member W, testis specific
• Alternate names: histone H2B type W-T,
• Gene location: Xq22.2 (104013686: 104011146)     Exons: 3     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300507

SNPs

rs553509

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.104013293T>C
NW_004070885.1   g.149709T>C
NG_016406.2   g.5396A>G
NM_001002916.4   c.368A>G
NC_000023.10   g.103267865C>T
NP_001002916.3   p.His123Arg|SEQ=[T/C]|GENE=H2BW1

rs7885967

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.104013669G>A
NW_004070885.1   g.150085G>A
NG_016406.2   g.5020C>T
NM_001002916.4   c.-9C>T
NC_000023.10   g.103268241G>A|SEQ=[G/A]|GENE=H2BW1

Protein Summary

• Protein general information: Q7Z2G1  
  • Name: Histone H2B type W T (H2B histone family member W testis specific)
  • Length: 175  
  • Mass: 19,618
• Sequence:

  MLRTEVPRLPRSTTAIVWSCHLMATASAMAGPSSETTSEEQLITQEPKEANSTTSQKQSKQRKRGRHGPRRCHSN
  CRGDSFATYFRRVLKQVHQGLSLSREAVSVMDSLVHDILDRIATEAGRLARSTKRQTITAWETRMAVRLLLPGQM
  GKLAESEGTKAVLRTSLYAIQQQRK

• Structural information:
  • Interpro: IPR009072  IPR007125  IPR000558  
  • STRING: ENSP00000354723
• Other Databases: GeneCards:  H2BFWT  Malacards:  H2BFWT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000788	nuclear nucleosome	IBA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0006334	nucleosome assembly	IBA	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0000786	nucleosome	IEA	cellular component
GO:0000786	nucleosome	IEA	cellular component
GO:0000788	nuclear nucleosome	IBA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IBA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0006334	nucleosome assembly	IBA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0000788	nuclear nucleosome	IBA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0006334	nucleosome assembly	IBA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03420	Nucleotide excision repair
hsa04015	Rap1 signaling pathway
hsa04010	MAPK signaling pathway
hsa05203	Viral carcinogenesis
hsa05322	Systemic lupus erythematosus
hsa05034	Alcoholism

Diseases

Associated diseases	References
Spermatogenesis defects	MIK: 22509975
Male factor infertility	MIK: 24510567
Azoospermia	MIK: 22509975
Oligozoospermia	MIK: 22509975
Idiopathic spermatogenesis impairment	MIK: 22509975
Azoospermia	MIK: 22509975
Oligozoospermia	MIK: 22509975
Male infertility	MIK: 19583817

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24510567	Male infertility	368G/A (rs553509), -9C/T (rs7885967)	Southwe st Chin a	523 (312 infertile men, 211 fertile men)	Male infertility
22509975	Idiopathic spermatogenesis impairment, azoospermia or oligozoospermia	-9C>T and 368A>G	Chinese	618 (409 infertile patients with idiopathic azoospermia or oligozoospermia, 209 fertile men as controls)	Male infertility	H2BFWT
19583817	Male infertility	H2BFWT (-9C > T)		704 (442 male infertility, 262 non-azoospermia)	Male infertility	H2BFWT
29453813	Male infertility	-9C>T, 368A>G		490 (240 idiopathic infertile men, 250 healthy controls)	Male infertility