• Gene id: 8341

Gene Summary

• Gene Symbol: H2BC15   Gene   UCSC   Ensembl
• Aliases: H2B/d, H2BFD, HIST1H2BN
• Gene name: H2B clustered histone 15
• Alternate names: histone H2B type 1-N, H2B histone family, member D, histone 1, H2bn, histone H2B.d, histone cluster 1 H2B family member n, histone cluster 1, H2bn,
• Gene location: 6p22.1 (27838568: 27839109)     Exons: 1     NC_000006.12
• 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: 610012

SNPs

rs868256749

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

NC_000012.12   g.63617303C>T
NC_000012.11   g.64011083C>T
NG_031909.1   g.56272G>A|SEQ=[C/T]|GENE=DPY19L2

rs751879424

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000012.12   g.63617339del
NC_000012.11   g.64011119del
NG_031909.1   g.56236del
NM_173812.4   c.1183del
NM_173812.5   c.1183del
XM_011538218.3   c.172del
XR_001748666.2   n.1335del
XM_006719352.2   c.754del
XM_017019192.2   c.1033del
XM_017019203.2   c.238del
XM_0170  

rs587777206

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

NC_000012.12   g.63624101G>A
NC_000012.11   g.64017881G>A
NG_031909.1   g.49474C>T
NM_173812.4   c.892C>T
NM_173812.5   c.892C>T
XR_001748666.2   n.1044C>T
XM_006719352.2   c.463C>T
XM_017019193.2   c.589C>T
XM_011538215.2   c.379C>T
XR_002957317.1   n.1044C>T
XR_002957  

rs587777205

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

NC_000012.12   g.63569312T>A
NC_000012.12   g.63569312T>G
NC_000012.11   g.63963092T>A
NC_000012.11   g.63963092T>G
NG_031909.1   g.104263A>T
NG_031909.1   g.104263A>C
NM_173812.4   c.2038A>T
NM_173812.4   c.2038A>C
NM_173812.5   c.2038A>T
NM_173812.5   c.2038A>C
XM_011  

rs147579680

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

NC_000012.12   g.63624124C>T
NC_000012.11   g.64017904C>T
NG_031909.1   g.49451G>A
NM_173812.4   c.869G>A
NM_173812.5   c.869G>A
XR_001748666.2   n.1021G>A
XM_006719352.2   c.440G>A
XM_017019193.2   c.566G>A
XM_011538215.2   c.356G>A
XR_002957317.1   n.1021G>A
XR_002957  

Protein Summary

• Protein general information: Q99877  
  • Name: Histone H2B type 1 N (Histone H2B.d) (H2B/d)
  • Length: 126  
  • Mass: 13922
• Sequence:

  MPEPSKSAPAPKKGSKKAVTKAQKKDGKKRKRSRKESYSVYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIA
  GEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSK

• Structural information:
  • Interpro: IPR009072  IPR007125  IPR000558  
  • Prosite: PS00357
  • STRING: ENSP00000483903
• Other Databases: GeneCards:  H2BC15  Malacards:  H2BC15

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	IBA	molecular function
GO:0006334	nucleosome assembly	IBA	biological process
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: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:0005634	nucleus	HDA	cellular component
GO:0003677	DNA binding	NAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006334	nucleosome assembly	NAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0000786	nucleosome	NAS	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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881