MACROH2A2 (macroH2A.2 histone)

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Gene Gene ontology Other IDs Protein Pathways Related genes Diseases linked via similar genes

Gene

• Entrez ID: 55506
• Gene name: MacroH2A.2 histone
• Gene symbol: MACROH2A2
• Synonyms (NCBI Gene): H2AFY2
• Chromosome: 10
• Chromosome location: 10q22.1
• Summary: 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

Gene ontology (GO) Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19734898
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000785	Component	Chromatin	IDA	19734898
GO:0000785	Component	Chromatin	IEA
GO:0000786	Component	Nucleosome	IBA
GO:0000786	Component	Nucleosome	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	19734898
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	23595991
GO:0001740	Component	Barr body	IDA	11331621
GO:0001740	Component	Barr body	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	22046132, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006334	Process	Nucleosome assembly	IEA
GO:0007420	Process	Brain development	IMP	19734898
GO:0009048	Process	Dosage compensation by inactivation of X chromosome	IDA	11331621
GO:0030527	Function	Structural constituent of chromatin	IBA
GO:0030527	Function	Structural constituent of chromatin	IEA
GO:0031490	Function	Chromatin DNA binding	IDA	19734898
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031507	Process	Heterochromatin formation	IBA
GO:0045618	Process	Positive regulation of keratinocyte differentiation	IEA
GO:0045618	Process	Positive regulation of keratinocyte differentiation	IMP	23595991
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IEA
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IMP	19734898
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071169	Process	Establishment of protein localization to chromatin	IEA
GO:0071169	Process	Establishment of protein localization to chromatin	IMP	19734898
GO:1901837	Process	Negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IBA
GO:1901837	Process	Negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IEA
GO:1901837	Process	Negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IGI	24071584

Other IDs

• MIM: 616141
• HGNC: 14453
• e!Ensembl: ENSG00000099284

Protein

• UniProt ID: Q9P0M6
• Protein name: Core histone macro-H2A.2 (Histone macroH2A2) (mH2A2)
• Protein function: Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a templ
• PDB: 2XD7 , 6FY5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00125	Histone	3 → 88	Core histone H2A/H2B/H3/H4	Domain
  PF01661	Macro	216 → 330	Macro domain	Domain
  PF16211	Histone_H2A_C	89 → 123	C-terminus of histone H2A	Family

• Sequence:

  MSGRSGKKKMSKLSRSARAGVIFPVGRLMRYLKKGTFKYRISVGAPVYMAAVIEYLAAEI
  LELAGNAARDNKKARIAPRHILLAVANDEELNQLLKGVTIASGGVLPRIHPELLAKKRGT
  KGKSETILSPPPEKRGRKATSGKKGGKKSKAAKPRTSKKSKPKDSDKEGTSNSTSEDGPG
  DGFTILSSKSLVLGQKLSLTQSDISHIGSMRVEGIVHPTTAEIDLKEDIGKALEKAGGKE
  FLETVKELRKSQGPLEVAEAAVSQSSGLAAKFVIHCHIPQWGSDKCEEQLEETIKNCLSA
  AEDKKLKSVAFPPFPSGRNCFPKQTAAQVTLKAISAHFDDSSASSLKNVYFLLFDSESIG
  IYVQEMAKLDAK

• Sequence length: 372

Pathways

KEGG Pathway

ATP-dependent chromatin remodeling

Necroptosis

Neutrophil extracellular trap formation

Alcoholism

Systemic lupus erythematosus

Related Genes

Sort by: Blended Diseases Pathways Evidence source

H2AL3 5 shared pathwaysATP-dependent chromatin remodeling, Necroptosis, Neutrophil extracellular trap formation, Alcoholism, Systemic lupus erythematosus Related via 5 shared pathways including ATP-dependent chromatin remodeling, Necroptosis. H2AB2 5 shared pathwaysATP-dependent chromatin remodeling, Necroptosis, Neutrophil extracellular trap formation, Alcoholism, Systemic lupus erythematosus Related via 5 shared pathways including ATP-dependent chromatin remodeling, Necroptosis. H2AB3 5 shared pathwaysATP-dependent chromatin remodeling, Necroptosis, Neutrophil extracellular trap formation, Alcoholism, Systemic lupus erythematosus Related via 5 shared pathways including ATP-dependent chromatin remodeling, Necroptosis. MACROH2A1 5 shared pathwaysATP-dependent chromatin remodeling, Necroptosis, Neutrophil extracellular trap formation, Alcoholism, Systemic lupus erythematosus Related via 5 shared pathways including ATP-dependent chromatin remodeling, Necroptosis. H2BE1 3 shared pathwaysNeutrophil extracellular trap formation, Alcoholism, Systemic lupus erythematosus Related via 3 shared pathways including Neutrophil extracellular trap formation, Alcoholism.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
H2AL3	0	[]	5	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus"]	0	[]
H2AB2	0	[]	5	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus"]	0	[]
H2AB3	0	[]	5	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus"]	0	[]
MACROH2A1	0	[]	5	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus"]	0	[]
H2BE1	0	[]	3	["Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus"]	0	[]

Diseases Linked via Similar Genes

Erectile dysfunction Linked via 1 of 5 related genesH2AL3 Prostate cancer Linked via 1 of 5 related genesH2AL3 Brachydactyly-elbow wrist dysplasia syndrome Linked via 1 of 5 related genesMACROH2A1 Scoliosis Linked via 1 of 5 related genesMACROH2A1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Erectile dysfunction	1	["H2AL3"]
Prostate cancer	1	["H2AL3"]
Brachydactyly-elbow wrist dysplasia syndrome	1	["MACROH2A1"]
Scoliosis	1	["MACROH2A1"]