• Gene id: 55506

Gene Summary

• Gene Symbol: MACROH2A2   Gene   UCSC   Ensembl
• Aliases: H2AFY2
• Gene name: macroH2A.2 histone
• Alternate names: core histone macro-H2A.2, H2A histone family member Y2, core histone macroH2A2.2, histone macroH2A2, mH2A2,
• Gene location: 10q22.1 (70052845: 70112281)     Exons: 9     NC_000010.11
• 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
• OMIM: 616141

Protein Summary

• Protein general information: Q9P0M6  
  • Name: Core histone macro H2A.2 (Histone macroH2A2) (mH2A2)
  • Length: 372  
  • Mass: 40058
• Sequence:

  MSGRSGKKKMSKLSRSARAGVIFPVGRLMRYLKKGTFKYRISVGAPVYMAAVIEYLAAEILELAGNAARDNKKAR
  IAPRHILLAVANDEELNQLLKGVTIASGGVLPRIHPELLAKKRGTKGKSETILSPPPEKRGRKATSGKKGGKKSK
  AAKPRTSKKSKPKDSDKEGTSNSTSEDGPGDGFTILSSKSLVLGQKLSLTQSDISHIGSMRVEGIVHPTTAEIDL
  KEDIGKALEKAGGKEFLETVKELRKSQGPLEVAEAAVSQSSGLAAKFVIHCHIPQWGSDKCEEQLEETIKNCLSA
  AEDKKLKSVAFPPFPSGRNCFPKQTAAQVTLKAISAHFDDSSASSLKNVYFLLFDSESIGIYVQEMAKLDAK

• Structural information:
  • Protein Domains: (2..11-)
    (/note="Histone-H2A)
    (184..37-)
    (/note="Macro-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00490"-)
  • Interpro: IPR021171  IPR009072  IPR002119  IPR007125  IPR032454   IPR002589  IPR035796  
  • Prosite: PS51154
  • CDD: cd00074 cd02904
  • PDB: 2XD7 6FY5
  • PDBsum: 2XD7 6FY5
  • DIP: 48563
  • STRING: ENSP00000362352
• Other Databases: GeneCards:  MACROH2A2  Malacards:  MACROH2A2

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:0006334	nucleosome assembly	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0000786	nucleosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0007549	dosage compensation	IDA	biological process
GO:0001740	Barr body	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000785	chromatin	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000784	nuclear chromosome, telomeric region	HDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:1901837	negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IGI	biological process
GO:0071169	establishment of protein localization to chromatin	IMP	biological process
GO:0045814	negative regulation of gene expression, epigenetic	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0007420	brain development	IMP	biological process
GO:0045618	positive regulation of keratinocyte differentiation	IMP	biological process

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
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