• Gene id: 94239

Gene Summary

• Gene Symbol: H2AZ2   Gene   UCSC   Ensembl
• Aliases: H2A.Z-2, H2AFV, H2AV
• Gene name: H2A.Z variant histone 2
• Alternate names: histone H2A.V, H2A histone family member V, H2A.F/Z, histone H2A.F/Z, purine-rich binding element protein B,
• Gene location: 7p13 (44848125: 44826888)     Exons: 6     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

Protein Summary

• Protein general information: Q71UI9  
  • Name: Histone H2A.V (H2A.F/Z) (H2A.Z variant histone 2)
  • Length: 128  
  • Mass: 13509
• Sequence:

  MAGGKAGKDSGKAKAKAVSRSQRAGLQFPVGRIHRHLKTRTTSHGRVGATAAVYSAAILEYLTAEVLELAGNASK
  DLKVKRITPRHLQLAIRGDEELDSLIKATIAGGGVIPHIHKSLIGKKGQQKTA

• Structural information:
  • Interpro: IPR009072  IPR002119  IPR007125  IPR032454  IPR032458  
  • Prosite: PS00046
  • CDD: cd00074
  • PDB: 3WAA
  • PDBsum: 3WAA
  • STRING: ENSP00000308405
• Other Databases: GeneCards:  H2AZ2  Malacards:  H2AZ2

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:0005694	chromosome	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:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray