• Gene id: 3017

Gene Summary

• Gene Symbol: H2BC5   Gene   UCSC   Ensembl
• Aliases: H2B.1B, H2B/a, H2B/b, H2B/g, H2B/h, H2B/k, H2B/l, H2BFA, H2BFB, H2BFG, H2BFH, H2BFK, H2BFL, HIRIP2, HIST1H2BC, HIST1H2BD, HIST1H2BE, HIST1H2BF, HIST1H2BG, HIST1H2BI, dJ221C16.6
• Gene name: H2B clustered histone 5
• Alternate names: histone H2B type 1-D, H2B histone family, member B, HIRA-interacting protein 2, Histone H2B type 1-C/E/F/G/I, Histone H2B.1 A, Histone H2B.a, Histone H2B.g, Histone H2B.h, Histone H2B.k, Histone H2B.l, histone 1, H2bd, histone H2B.1 B, histone H2B.b, histone cluster 1,
• Gene location: 6p22.2 (129952959: 129830731)     Exons: 7     NC_000007.14
• Gene summary(Entrez): 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 hi
• OMIM: 602799

SNPs

rs2298090

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

NC_000006.12   g.26156845A>G
NC_000006.11   g.26157073A>G
NM_005321.2   c.455A>G
NM_005321.3   c.455A>G
NP_005312.1   p.Lys152Arg|SEQ=[A/G]|GENE=H1-4
H2BC5   3017

Protein Summary

• Protein general information: P58876  
  • Name: Histone H2B type 1 D (H2B clustered histone 5) (HIRA interacting protein 2) (Histone H2B.1 B) (Histone H2B.b) (H2B/b)
  • Length: 126  
  • Mass: 13936
• Sequence:

  MPEPTKSAPAPKKGSKKAVTKAQKKDGKKRKRSRKESYSVYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIA
  GEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSK

• Structural information:
  • Interpro: IPR009072  IPR007125  IPR000558  
  • Prosite: PS00357
  • STRING: ENSP00000289316
• Other Databases: GeneCards:  H2BC5  Malacards:  H2BC5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006334	nucleosome assembly	IBA	biological process
GO:0003677	DNA binding	IBA	molecular function
GO:0000786	nucleosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0000786	nucleosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0005634	nucleus	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05034	Alcoholism
hsa05203	Viral carcinogenesis
hsa05322	Systemic lupus erythematosus

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881