• Gene id: 85236

Gene Summary

• Gene Symbol: H2BC12   Gene   UCSC   Ensembl
• Aliases: H2B/S, H2BFAiii, H2BFT, H2BK, HIST1H2BK
• Gene name: H2B clustered histone 12
• Alternate names: histone H2B type 1-K, H2B K, H2B histone family, member T, HIRA-interacting protein 1, histone 1, H2bk, histone cluster 1 H2B family member k, histone cluster 1, H2bk, histone family member,
• Gene location: 6p22.1 (27146857: 27138292)     Exons: 2     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: 615045

Protein Summary

• Protein general information: O60814  
  • Name: Histone H2B type 1 K (H2B K) (HIRA interacting protein 1)
  • Length: 126  
  • Mass: 13890
• Sequence:

  MPEPAKSAPAPKKGSKKAVTKAQKKDGKKRKRSRKESYSVYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIA
  GEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSAK

• Structural information:
  • Interpro: IPR009072  IPR007125  IPR000558  
  • Prosite: PS00357
  • PDB: 2CV5 6V92
  • PDBsum: 2CV5 6V92
  • DIP: 48935
  • STRING: ENSP00000349430
• Other Databases: GeneCards:  H2BC12  Malacards:  H2BC12

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:0003677	DNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0042742	defense response to bacterium	IEA	biological process
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:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0050830	defense response to Gram-positive bacterium	IDA	biological process
GO:0019731	antibacterial humoral response	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0002227	innate immune response in mucosa	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	biological process
GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	biological process
GO:0050829	defense response to Gram-negative bacterium	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0003674	molecular_function	ND	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq