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 histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with... See more...

Aliases for MACROH2A2 Gene

Aliases for MACROH2A2 Gene

  • MacroH2A.2 Histone 2 3
  • H2A Histone Family Member Y2 2 3 5
  • Core Histone Macro-H2A.2 3 4
  • Histone MacroH2A2 3 4
  • H2AFY2 3 5
  • MH2A2 3 4
  • H2A Histone Family, Member Y2 2
  • Core Histone MacroH2A2.2 3

External Ids for MACROH2A2 Gene

Previous HGNC Symbols for MACROH2A2 Gene

  • H2AFY2

Summaries for MACROH2A2 Gene

Entrez Gene Summary for MACROH2A2 Gene

  • 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 histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and may participate in stable X chromosome inactivation. [provided by RefSeq, Oct 2015]

GeneCards Summary for MACROH2A2 Gene

MACROH2A2 (MacroH2A.2 Histone) is a Protein Coding gene. Diseases associated with MACROH2A2 include Anus Benign Neoplasm and Plantar Wart. Among its related pathways are Preimplantation Embryo and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. An important paralog of this gene is MACROH2A1.

UniProtKB/Swiss-Prot Summary for MACROH2A2 Gene

  • 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 template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in stable X chromosome inactivation.

Gene Wiki entry for MACROH2A2 Gene

Additional gene information for MACROH2A2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MACROH2A2 Gene

Genomics for MACROH2A2 Gene

GeneHancer (GH) Regulatory Elements for MACROH2A2 Gene

Promoters and enhancers for MACROH2A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J070052 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 507.1 +0.4 444 3.2 ZSCAN5C POLR2G PHF8 TEAD4 ZFX CTCF ZBTB10 ZNF423 ZBTB26 ZBTB25 MACROH2A2 piR-51223
GH10J069956 Promoter 0.7 Ensembl 20.2 -96.3 -96300 0.6 CREB1 FOS STAT3 EGR1 ATF2 CREM JUND ATF7 EGR2 ATF3 MACROH2A2 HSALNG0078615 NONHSAG006126.2 COL13A1
GH10J070081 Enhancer 0.5 FANTOM5 11.6 +28.7 28665 0.4 RARA GATA3 ESRRA ZNF362 NCOA3 CREB1 MACROH2A2 TYSND1 CALM2P2 SAR1A piR-51223
GH10J069960 Enhancer 0.5 ENCODE 10.2 -91.4 -91399 1.1 CTCF ZSCAN5C ZIC2 NFIC USF1 RAD21 ZNF600 MACROH2A2 HSALNG0078615 NONHSAG006126.2 COL13A1
GH10J070078 Enhancer 0.3 Ensembl 11.6 +26.2 26199 1.2 ZNF148 FOS MACROH2A2 TYSND1 CALM2P2 SAR1A piR-51223
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MACROH2A2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MACROH2A2

Genomic Locations for MACROH2A2 Gene

Genomic Locations for MACROH2A2 Gene
chr10:70,052,601-70,112,284
(GRCh38/hg38)
Size:
59,684 bases
Orientation:
Plus strand
chr10:71,812,357-71,872,040
(GRCh37/hg19)
Size:
59,684 bases
Orientation:
Plus strand

Genomic View for MACROH2A2 Gene

Genes around MACROH2A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MACROH2A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MACROH2A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MACROH2A2 Gene

Proteins for MACROH2A2 Gene

  • Protein details for MACROH2A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0M6-H2AW_HUMAN
    Recommended name:
    Core histone macro-H2A.2
    Protein Accession:
    Q9P0M6
    Secondary Accessions:
    • Q5SQT2

    Protein attributes for MACROH2A2 Gene

    Size:
    372 amino acids
    Molecular mass:
    40058 Da
    Quaternary structure:
    • The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers.

    Three dimensional structures from OCA and Proteopedia for MACROH2A2 Gene

neXtProt entry for MACROH2A2 Gene

Post-translational modifications for MACROH2A2 Gene

  • Ubiquitination at Lys332
  • Modification sites at PhosphoSitePlus

Other Protein References for MACROH2A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MACROH2A2 Gene

Domains & Families for MACROH2A2 Gene

Gene Families for MACROH2A2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MACROH2A2 Gene

Blocks:
  • Histone H2A
  • Protein of unknown function Appr-1
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MACROH2A2 Gene

GenScript: Design optimal peptide antigens:
  • Core histone macro-H2A.2 (H2AW_HUMAN)
  • Histone H2A (Q5SQT3_HUMAN)
genes like me logo Genes that share domains with MACROH2A2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MACROH2A2 Gene

Function for MACROH2A2 Gene

Molecular function for MACROH2A2 Gene

UniProtKB/Swiss-Prot 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 template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in stable X chromosome inactivation.

Phenotypes From GWAS Catalog for MACROH2A2 Gene

Gene Ontology (GO) - Molecular Function for MACROH2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 23595991
GO:0003677 DNA binding IEA,IBA 21873635
GO:0031490 chromatin DNA binding IEA,IDA 19734898
GO:0044212 transcription regulatory region DNA binding IDA 19734898
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with MACROH2A2: view
genes like me logo Genes that share phenotypes with MACROH2A2: view

Animal Models for MACROH2A2 Gene

MGI Knock Outs for MACROH2A2:

Animal Model Products

CRISPR Products

miRNA for MACROH2A2 Gene

miRTarBase miRNAs that target MACROH2A2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MACROH2A2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MACROH2A2 Gene

Localization for MACROH2A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MACROH2A2 Gene

Nucleus. Chromosome. Note=Enriched in inactive X chromosome chromatin (PubMed:11331621, PubMed:11262398) and in senescence-associated heterochromatin (PubMed:15621527). {ECO:0000269 PubMed:11262398, ECO:0000269 PubMed:11331621, ECO:0000269 PubMed:15621527}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MACROH2A2 gene
Compartment Confidence
nucleus 5
mitochondrion 3
plasma membrane 1
extracellular 1
cytoskeleton 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MACROH2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region HDA 19135898
GO:0000785 chromatin IEA --
GO:0000786 nucleosome IEA --
GO:0000790 nuclear chromatin IDA,IBA 19734898
GO:0001740 Barr body IDA 11331621
genes like me logo Genes that share ontologies with MACROH2A2: view

Pathways & Interactions for MACROH2A2 Gene

genes like me logo Genes that share pathways with MACROH2A2: view

Pathways by source for MACROH2A2 Gene

1 BioSystems pathway for MACROH2A2 Gene
3 KEGG pathways for MACROH2A2 Gene

Gene Ontology (GO) - Biological Process for MACROH2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 19734898
GO:0006325 chromatin organization IBA 21873635
GO:0006334 nucleosome assembly IEA --
GO:0007420 brain development IMP 19734898
GO:0007549 dosage compensation IDA 11331621
genes like me logo Genes that share ontologies with MACROH2A2: view

No data available for SIGNOR curated interactions for MACROH2A2 Gene

Drugs & Compounds for MACROH2A2 Gene

No Compound Related Data Available

Transcripts for MACROH2A2 Gene

mRNA/cDNA for MACROH2A2 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MACROH2A2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MACROH2A2 Gene

No ASD Table

Relevant External Links for MACROH2A2 Gene

GeneLoc Exon Structure for
MACROH2A2

Expression for MACROH2A2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MACROH2A2

SOURCE GeneReport for Unigene cluster for MACROH2A2 Gene:

Hs.499953

Evidence on tissue expression from TISSUES for MACROH2A2 Gene

  • Nervous system(3.6)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MACROH2A2 Gene

Orthologs for MACROH2A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MACROH2A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia H2AFY2 31 30
  • 99.46 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia H2AFY2 31
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia H2AFY2 31 30
  • 93.1 (n)
OneToOne
dog
(Canis familiaris)
Mammalia H2AFY2 31 30
  • 92.83 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia H2afy2 30
  • 90.77 (n)
mouse
(Mus musculus)
Mammalia H2afy2 31 30
  • 90.23 (n)
OneToOne
Macroh2a2 17
oppossum
(Monodelphis domestica)
Mammalia H2AFY2 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves H2AFY2 31 30
  • 80.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia H2AFY2 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia h2afy2 30
  • 71.25 (n)
Str.12885 30
African clawed frog
(Xenopus laevis)
Amphibia h2afy2-prov 30
zebrafish
(Danio rerio)
Actinopterygii h2afy2 31 31 30
  • 69.49 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea htas-1 31
  • 39 (a)
OneToMany
Species where no ortholog for MACROH2A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MACROH2A2 Gene

ENSEMBL:
Gene Tree for MACROH2A2 (if available)
TreeFam:
Gene Tree for MACROH2A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MACROH2A2: view image

Paralogs for MACROH2A2 Gene

Variants for MACROH2A2 Gene

Additional dbSNP identifiers (rs#s) for MACROH2A2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MACROH2A2 Gene

Variant ID Type Subtype PubMed ID
esv32737 CNV gain+loss 17666407
nsv551479 CNV loss 21841781
nsv819142 CNV gain 19587683

Variation tolerance for MACROH2A2 Gene

Residual Variation Intolerance Score: 32.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 17.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MACROH2A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MACROH2A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MACROH2A2 Gene

Disorders for MACROH2A2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MACROH2A2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
anus benign neoplasm
  • anal neoplasm
plantar wart
  • verruca plantaris
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MACROH2A2

genes like me logo Genes that share disorders with MACROH2A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MACROH2A2 Gene

Publications for MACROH2A2 Gene

  1. Histone H2A variants and the inactive X chromosome: identification of a second macroH2A variant. (PMID: 11331621) Chadwick BP … Willard HF (Human molecular genetics 2001) 2 3 4 23 54
  2. MACROH2A2, a new member of the MARCOH2A core histone family. (PMID: 11262398) Costanzi C … Pehrson JR (The Journal of biological chemistry 2001) 2 3 4 54
  3. Formation of MacroH2A-containing senescence-associated heterochromatin foci and senescence driven by ASF1a and HIRA. (PMID: 15621527) Zhang R … Adams PD (Developmental cell 2005) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for MACROH2A2 Gene

Sources for MACROH2A2 Gene