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Aliases for H2AFY Gene

Aliases for H2AFY Gene

  • H2A Histone Family Member Y 2 3 5
  • Medulloblastoma Antigen MU-MB-50.205 3 4
  • Histone MacroH2A1 3 4
  • Histone H2A.Y 3 4
  • H2A/Y 3 4
  • MH2A1 3 4
  • H2A Histone Family, Member Y 2
  • Core Histone Macro-H2A.1 3
  • Histone MacroH2A1.1 3
  • Histone MacroH2A1.2 3
  • MACROH2A1.1 3
  • MacroH2A1.2 3
  • MACROH2A1 4
  • H2AF12M 3
  • H2A.Y 3

External Ids for H2AFY Gene

Previous GeneCards Identifiers for H2AFY Gene

  • GC05M134322
  • GC05M135237
  • GC05M134700
  • GC05M134746
  • GC05M134697
  • GC05M129857
  • GC05M134669

Summaries for H2AFY Gene

Entrez Gene Summary for H2AFY 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 participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]

GeneCards Summary for H2AFY Gene

H2AFY (H2A Histone Family Member Y) is a Protein Coding gene. Diseases associated with H2AFY include Medulloblastoma. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and ATF-2 transcription factor network. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and protein kinase binding. An important paralog of this gene is H2AFY2.

UniProtKB/Swiss-Prot for H2AFY Gene

  • Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription (PubMed:12718888, PubMed:15621527, PubMed:16428466). 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. Involved in stable X chromosome inactivation (PubMed:15897469). Inhibits the binding of transcription factors, including NF-kappa-B, and interferes with the activity of remodeling SWI/SNF complexes (PubMed:12718888, PubMed:16428466). Inhibits histone acetylation by EP300 and recruits class I HDACs, which induces a hypoacetylated state of chromatin (PubMed:16428466, PubMed:16107708).

  • Isoform 1: Binds ADP-ribose and O-acetyl-ADP-ribose, and may be involved in ADP-ribose-mediated chromatin modulation (PubMed:15902274). Increases the expression of genes involved in redox metabolism, including SOD3 (PubMed:23022728).

  • Isoform 2: Represses SOD3 gene expression.

Gene Wiki entry for H2AFY Gene

Additional gene information for H2AFY Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for H2AFY Gene

Genomics for H2AFY Gene

GeneHancer (GH) Regulatory Elements for H2AFY Gene

Promoters and enhancers for H2AFY 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
GH05J135388 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 655.5 +4.9 4929 12.8 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 H2AFY DDX46 ENSG00000270021 SMAD5 C5orf66 NEUROG1 LOC105379188 ENSG00000248753 ENSG00000270892 ENSG00000253927
GH05J135433 Enhancer 1.3 VISTA Ensembl ENCODE 11.8 -34.8 -34778 3.1 BCOR ELF3 TFAP4 ARID4B ZMYM3 ZBTB40 POLR2A ADNP SMARCA5 CEBPB ENSG00000249639 H2AFY NEUROG1 ENSG00000270021 DCANP1
GH05J135425 Enhancer 0.9 Ensembl ENCODE 12.7 -26.1 -26084 1.7 MEIS2 CTCF PKNOX1 FOXA2 ARNT ERF RAD21 ZNF335 FOXK2 ARID2 ENSG00000270021 H2AFY DCANP1
GH05J135436 Enhancer 1 Ensembl ENCODE 11.1 -38.3 -38259 3.6 PKNOX1 NFIB SIN3A ZNF766 IKZF2 RUNX3 ZBTB11 ZNF592 ZNF148 NFIC TXNDC15 H2AFY ENSG00000249639 JADE2 DCANP1
GH05J135423 Enhancer 0.9 Ensembl ENCODE 12.1 -23.5 -23472 1 HDAC1 JUN FOSL1 CTBP1 ZNF766 FOSL2 NFE2 FOS CREM SMARCE1 ENSG00000270021 H2AFY DCANP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around H2AFY on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the H2AFY gene promoter:
  • AML1a
  • CUTL1
  • Pax-4a
  • S8
  • SEF-1 (1)

Genomic Locations for H2AFY Gene

Genomic Locations for H2AFY Gene
chr5:135,333,900-135,400,147
(GRCh38/hg38)
Size:
66,248 bases
Orientation:
Minus strand
chr5:134,669,590-134,735,604
(GRCh37/hg19)
Size:
66,015 bases
Orientation:
Minus strand

Genomic View for H2AFY Gene

Genes around H2AFY on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2AFY Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H2AFY Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2AFY Gene

Proteins for H2AFY Gene

  • Protein details for H2AFY Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75367-H2AY_HUMAN
    Recommended name:
    Core histone macro-H2A.1
    Protein Accession:
    O75367
    Secondary Accessions:
    • O75377
    • Q503A8
    • Q7Z5E3
    • Q96D41
    • Q9H8P3
    • Q9UP96

    Protein attributes for H2AFY Gene

    Size:
    372 amino acids
    Molecular mass:
    39617 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. Interacts with HDAC1 and HDAC2 (By similarity). Interacts with SPOP. Part of a complex consisting of H2AFY, CUL3 and SPOP.

    Three dimensional structures from OCA and Proteopedia for H2AFY Gene

    Alternative splice isoforms for H2AFY Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for H2AFY Gene

Post-translational modifications for H2AFY Gene

  • Monoubiquitinated at either Lys-116 or Lys-117. May also be polyubiquitinated. Ubiquitination is mediated by the CUL3/SPOP E3 complex and does not promote proteasomal degradation. Instead, it is required for enrichment in inactive X chromosome chromatin.
  • Ubiquitination at Lys323, isoforms=2, 3307, isoforms=2, 3295, Lys292, isoforms=2, 3285, Lys251, Lys189, and isoforms=2, 3117
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for H2AFY Gene

Domains & Families for H2AFY Gene

Gene Families for H2AFY Gene

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

Suggested Antigen Peptide Sequences for H2AFY Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with H2AFY: view

No data available for UniProtKB/Swiss-Prot for H2AFY Gene

Function for H2AFY Gene

Molecular function for H2AFY Gene

UniProtKB/Swiss-Prot Function:
Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription (PubMed:12718888, PubMed:15621527, PubMed:16428466). 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. Involved in stable X chromosome inactivation (PubMed:15897469). Inhibits the binding of transcription factors, including NF-kappa-B, and interferes with the activity of remodeling SWI/SNF complexes (PubMed:12718888, PubMed:16428466). Inhibits histone acetylation by EP300 and recruits class I HDACs, which induces a hypoacetylated state of chromatin (PubMed:16428466, PubMed:16107708).
UniProtKB/Swiss-Prot Function:
Isoform 1: Binds ADP-ribose and O-acetyl-ADP-ribose, and may be involved in ADP-ribose-mediated chromatin modulation (PubMed:15902274). Increases the expression of genes involved in redox metabolism, including SOD3 (PubMed:23022728).
UniProtKB/Swiss-Prot Function:
Isoform 2: Represses SOD3 gene expression.
GENATLAS Biochemistry:
core histone family H2A,replacement subtype replication independent protein,species H2A-Z

Phenotypes From GWAS Catalog for H2AFY Gene

Gene Ontology (GO) - Molecular Function for H2AFY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000182 rDNA binding IDA 24071584
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 23595991
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 25526730
GO:0001046 core promoter sequence-specific DNA binding ISS --
GO:0003677 DNA binding NAS 9714746
genes like me logo Genes that share ontologies with H2AFY: view
genes like me logo Genes that share phenotypes with H2AFY: view

Animal Models for H2AFY Gene

MGI Knock Outs for H2AFY:

Animal Model Products

Clone Products

  • Addgene plasmids for H2AFY

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for H2AFY Gene

Localization for H2AFY Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2AFY Gene

Nucleus. Chromosome. Note=Enriched in inactive X chromosome chromatin and in senescence-associated heterochromatin. {ECO:0000269 PubMed:15621527, ECO:0000269 PubMed:15897469, ECO:0000269 PubMed:9634239}.

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 H2AFY gene
Compartment Confidence
extracellular 5
nucleus 5
mitochondrion 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for H2AFY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA 18936163
GO:0000784 nuclear chromosome, telomeric region HDA 19135898
GO:0000785 chromatin IEA --
GO:0000786 nucleosome NAS 9714746
GO:0000790 nuclear chromatin IDA 19734898
genes like me logo Genes that share ontologies with H2AFY: view

Pathways & Interactions for H2AFY Gene

genes like me logo Genes that share pathways with H2AFY: view

Pathways by source for H2AFY Gene

1 GeneTex pathway for H2AFY Gene
1 BioSystems pathway for H2AFY Gene
3 KEGG pathways for H2AFY Gene
1 Cell Signaling Technology pathway for H2AFY Gene

Gene Ontology (GO) - Biological Process for H2AFY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 19734898
GO:0001558 NOT regulation of cell growth IGI 24071584
GO:0006325 chromatin organization IEA,IBA --
GO:0006334 nucleosome assembly NAS 9714746
GO:0006342 chromatin silencing IBA --
genes like me logo Genes that share ontologies with H2AFY: view

No data available for SIGNOR curated interactions for H2AFY Gene

Drugs & Compounds for H2AFY Gene

No Compound Related Data Available

Transcripts for H2AFY Gene

Unigene Clusters for H2AFY Gene

H2A histone family, member Y:
Representative Sequences:

Clone Products

  • Addgene plasmids for H2AFY

Alternative Splicing Database (ASD) splice patterns (SP) for H2AFY Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - - -
SP9: - - - -
SP10: - - - - -
SP11: - - - - -
SP12: - - - - -
SP13: - -
SP14: - - - - - - -
SP15: - - - -
SP16: -
SP17: - -
SP18: - - - - -
SP19: - - - -
SP20: - -
SP21: -
SP22:
SP23: - - - - -

ExUns: 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d ^ 14
SP1: -
SP2: -
SP3: -
SP4: -
SP5: - -
SP6: -
SP7: -
SP8: -
SP9:
SP10: - -
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

Relevant External Links for H2AFY Gene

GeneLoc Exon Structure for
H2AFY
ECgene alternative splicing isoforms for
H2AFY

Expression for H2AFY Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for H2AFY Gene

mRNA differential expression in normal tissues according to GTEx for H2AFY Gene

This gene is overexpressed in Whole Blood (x4.9).

Protein differential expression in normal tissues from HIPED for H2AFY Gene

This gene is overexpressed in Retina (8.2) and Tlymphocyte (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for H2AFY Gene



Protein tissue co-expression partners for H2AFY Gene

NURSA nuclear receptor signaling pathways regulating expression of H2AFY Gene:

H2AFY

SOURCE GeneReport for Unigene cluster for H2AFY Gene:

Hs.420272

mRNA Expression by UniProt/SwissProt for H2AFY Gene:

O75367-H2AY_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for H2AFY Gene

  • Blood(4.8)
  • Nervous system(4.5)
  • Bone marrow(4.4)
  • Liver(4.4)
  • Lung(3.7)
  • Pancreas(2.6)
  • Eye(2.4)
  • Skin(2.3)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with H2AFY: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for H2AFY Gene

Orthologs for H2AFY Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for H2AFY Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia H2AFY 34 33
  • 99.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia H2AFY 33
  • 93.73 (n)
cow
(Bos Taurus)
Mammalia H2AFY 34 33
  • 93.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia H2afy 16 34 33
  • 90.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia H2AFY 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia H2afy 33
  • 89.94 (n)
chicken
(Gallus gallus)
Aves H2AFY 34 33
  • 85.39 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia H2AFY 34
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia h2afy 33
  • 75.88 (n)
Str.9088 33
zebrafish
(Danio rerio)
Actinopterygii h2afy 33
  • 70.7 (n)
H2AFY (5 of 16) 34
  • 63 (a)
OneToMany
H2AFY (1 of 16) 34
  • 63 (a)
OneToMany
H2AFY (2 of 16) 34
  • 63 (a)
OneToMany
H2AFY (14 of 16) 34
  • 63 (a)
OneToMany
H2AFY (4 of 16) 34
  • 63 (a)
OneToMany
H2AFY (8 of 16) 34
  • 63 (a)
OneToMany
H2AFY (10 of 16) 34
  • 62 (a)
OneToMany
H2AFY (3 of 16) 34
  • 62 (a)
OneToMany
H2AFY (15 of 16) 34
  • 62 (a)
OneToMany
H2AFY (12 of 16) 34
  • 62 (a)
OneToMany
H2AFY (11 of 16) 34
  • 62 (a)
OneToMany
H2AFY (9 of 16) 34
  • 62 (a)
OneToMany
H2AFY (6 of 16) 34
  • 62 (a)
OneToMany
H2AFY (16 of 16) 34
  • 62 (a)
OneToMany
H2AFY (13 of 16) 34
  • 62 (a)
OneToMany
H2AFY (7 of 16) 34
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta His2A:CG33829 34
  • 64 (a)
OneToMany
His2A:CG33823 34
  • 64 (a)
OneToMany
His2A:CG33838 34
  • 64 (a)
OneToMany
His2A:CG33862 34
  • 64 (a)
OneToMany
His2A:CG33808 34
  • 64 (a)
OneToMany
His2A:CG33832 34
  • 64 (a)
OneToMany
His2A:CG33844 34
  • 64 (a)
OneToMany
His2A:CG33865 34
  • 64 (a)
OneToMany
His2A:CG33817 34
  • 64 (a)
OneToMany
His2A:CG33859 34
  • 64 (a)
OneToMany
His2A:CG33850 34
  • 64 (a)
OneToMany
His2A:CG33847 34
  • 64 (a)
OneToMany
His2A:CG33814 34
  • 64 (a)
OneToMany
His2A:CG33835 34
  • 64 (a)
OneToMany
His2A:CG31618 34
  • 64 (a)
OneToMany
His2A:CG33820 34
  • 64 (a)
OneToMany
His2A:CG33841 34
  • 64 (a)
OneToMany
His2A:CG33853 34
  • 64 (a)
OneToMany
His2A:CG33856 34
  • 64 (a)
OneToMany
His2A:CG33826 34
  • 64 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea his-43 34
  • 63 (a)
OneToMany
his-61 34
  • 63 (a)
OneToMany
his-65 34
  • 63 (a)
OneToMany
his-51 34
  • 63 (a)
OneToMany
his-19 34
  • 63 (a)
OneToMany
his-7 34
  • 63 (a)
OneToMany
his-21 34
  • 63 (a)
OneToMany
his-47 34
  • 63 (a)
OneToMany
his-68 34
  • 63 (a)
OneToMany
his-3 34
  • 63 (a)
OneToMany
his-53 34
  • 63 (a)
OneToMany
his-16 34
  • 63 (a)
OneToMany
his-33 34
  • 63 (a)
OneToMany
his-12 34
  • 63 (a)
OneToMany
his-30 34
  • 63 (a)
OneToMany
his-35 34
  • 62 (a)
OneToMany
his-57 34
  • 56 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTA1 34
  • 59 (a)
OneToMany
HTA2 34
  • 59 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
OneToOne
Species where no ortholog for H2AFY was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 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 H2AFY Gene

ENSEMBL:
Gene Tree for H2AFY (if available)
TreeFam:
Gene Tree for H2AFY (if available)
Aminode:
Evolutionary constrained regions (ECRs) for H2AFY: view image

Paralogs for H2AFY Gene

Variants for H2AFY Gene

Sequence variations from dbSNP and Humsavar for H2AFY Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000073240 -- 135,380,749(-) A/C intron_variant
rs1000136209 -- 135,370,449(-) A/G intron_variant
rs1000196492 -- 135,379,951(-) C/T intron_variant
rs1000251568 -- 135,393,596(-) A/G intron_variant
rs1000333243 -- 135,340,443(-) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for H2AFY Gene

Variant ID Type Subtype PubMed ID
nsv1112886 CNV deletion 24896259
nsv5015 CNV insertion 18451855
nsv599745 CNV loss 21841781
nsv830496 CNV gain 17160897

Variation tolerance for H2AFY Gene

Residual Variation Intolerance Score: 13.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.05; 1.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for H2AFY Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
H2AFY

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for H2AFY Gene

Disorders for H2AFY Gene

MalaCards: The human disease database

(1) MalaCards diseases for H2AFY Gene - From: GeneCards

Disorder Aliases PubMed IDs
medulloblastoma
  • mdb
- elite association - COSMIC cancer census association via MalaCards
Search H2AFY in MalaCards View complete list of genes associated with diseases

Additional Disease Information for H2AFY

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with H2AFY: view

No data available for UniProtKB/Swiss-Prot and Genatlas for H2AFY Gene

Publications for H2AFY Gene

  1. Isolation of cDNA clones encoding human histone macroH2A1 subtypes. (PMID: 9714746) Lee Y … Choe IS (Biochimica et biophysica acta 1998) 2 3 4 22 58
  2. Mapping post-translational modifications of the histone variant MacroH2A1 using tandem mass spectrometry. (PMID: 16210244) Chu F … Burlingame AL (Molecular & cellular proteomics : MCP 2006) 3 4 22 58
  3. Stable X chromosome inactivation involves the PRC1 Polycomb complex and requires histone MACROH2A1 and the CULLIN3/SPOP ubiquitin E3 ligase. (PMID: 15897469) Hernández-Muñoz I … van Lohuizen M (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 22 58
  4. Splicing regulates NAD metabolite binding to histone macroH2A. (PMID: 15965484) Kustatscher G … Ladurner AG (Nature structural & molecular biology 2005) 3 4 22 58
  5. Histone variant macroH2A1.2 is mono-ubiquitinated at its histone domain. (PMID: 16129414) Ogawa Y … Shibahara KI (Biochemical and biophysical research communications 2005) 3 4 22 58

Products for H2AFY Gene

  • Addgene plasmids for H2AFY

Sources for H2AFY Gene

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