• Gene id: 25763

Gene Summary

• Gene Symbol: H2AP   Gene   UCSC   Ensembl
• Aliases: CXorf27, HIP17, HYPM
• Gene name: H2A.P histone
• Alternate names: huntingtin-interacting protein M, histone H2A.P, huntingtin interacting protein M, huntingtin yeast partner M,
• Gene location: Xp11.4 (37990778: 37991313)     Exons: 1     NC_000023.11
• Gene summary(Entrez): This gene encodes a protein shown to interact with huntingtin, which contains an expanded polyglutamine tract in individuals with Huntington's disease (PMID: 9700202). [provided by RefSeq, Aug 2011]
• OMIM: 0

Protein Summary

• Protein general information: O75409  
  • Name: Huntingtin interacting protein M (Histone H2A.P) (Huntingtin yeast partner M)
  • Length: 117  
  • Mass: 13442
• Sequence:

  MSEKKNCKNSSTNNNQTQDPSRNELQVPRSFVDRVVQDERDVQSQSSSTINTLLTLLDCLADYIMERVGLEASNN
  GSMRNTSQDREREVDNNREPHSAESDVTRFLFDEMPKSRKND

• Structural information:
  • Interpro: IPR009072  
  • STRING: ENSP00000339511
• Other Databases: GeneCards:  H2AP  Malacards:  H2AP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006325	chromatin organization	IBA	biological process
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0006342	chromatin silencing	IBA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R