• Gene id: 85235

Gene Summary

• Gene Symbol: H2AC12   Gene   UCSC   Ensembl
• Aliases: H2A/S, H2AFALii, H2AH, HIST1H2AH, dJ86C11.1
• Gene name: H2A clustered histone 12
• Alternate names: histone H2A type 1-H, H2A histone family member, histone H2A/s, histone cluster 1 H2A family member h, histone cluster 1, H2ah,
• Gene location: 6p22.1 (126268981: 126255150)     Exons: 15     NC_000011.10
• 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: 615013

Protein Summary

• Protein general information: Q96KK5  
  • Name: Histone H2A type 1 H (H2A clustered histone 12) (Histone H2A/s)
  • Length: 128  
  • Mass: 13906
• Sequence:

  MSGRGKQGGKARAKAKTRSSRAGLQFPVGRVHRLLRKGNYAERVGAGAPVYLAAVLEYLTAEILELAGNAARDNK
  KTRIIPRHLQLAIRNDEELNKLLGKVTIAQGGVLPNIQAVLLPKKTESHHKAK

• Structural information:
  • Interpro: IPR009072  IPR002119  IPR007125  IPR032454  IPR032458  
  • Prosite: PS00046
  • CDD: cd00074
  • DIP: 61699
  • STRING: ENSP00000366679
• Other Databases: GeneCards:  H2AC12  Malacards:  H2AC12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006325	chromatin organization	IBA	biological process
GO:0006342	chromatin silencing	IBA	biological process
GO:0003677	DNA binding	IBA	molecular function
GO:0000790	nuclear chromatin	IBA	cellular component
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:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05034	Alcoholism
hsa04217	Necroptosis
hsa05322	Systemic lupus erythematosus

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq