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H2AFY (H2A histone family member Y)

Identity

Alias_namesH2A histone family
Alias_symbol (synonym)macroH2A1.2
Other aliasH2A.y
H2A/y
H2AF12M
MACROH2A1.1
mH2A1
HGNC (Hugo) H2AFY
LocusID (NCBI) 9555
Atlas_Id 51199
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 134670071 and ends at 134734928 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATP2B4 (1q32.1) / H2AFY (5q31.1)COX7B (Xq21.1) / H2AFY (5q31.1)EIF4H (7q11.23) / H2AFY (5q31.1)
GHR (5p13.1) / H2AFY (5q31.1)H2AFY (5q31.1) / CNOT6 (5q35.3)H2AFY (5q31.1) / ZFHX4 (8q21.11)
H2AFY (5q31.1) / ZNF788 ()PCDHB19P (5q31.3) / H2AFY (5q31.1)H2AFY 5q31.1 / CNOT6 5q35.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)H2AFY   4740
Cards
Entrez_Gene (NCBI)H2AFY  9555  H2A histone family member Y
AliasesH2A.y; H2A/y; H2AF12M; MACROH2A1.1; 
mH2A1; macroH2A1.2
GeneCards (Weizmann)H2AFY
Ensembl hg19 (Hinxton)ENSG00000113648 [Gene_View]  chr5:134670071-134734928 [Contig_View]  H2AFY [Vega]
Ensembl hg38 (Hinxton)ENSG00000113648 [Gene_View]  chr5:134670071-134734928 [Contig_View]  H2AFY [Vega]
ICGC DataPortalENSG00000113648
TCGA cBioPortalH2AFY
AceView (NCBI)H2AFY
Genatlas (Paris)H2AFY
WikiGenes9555
SOURCE (Princeton)H2AFY
Genetics Home Reference (NIH)H2AFY
Genomic and cartography
GoldenPath hg19 (UCSC)H2AFY  -     chr5:134670071-134734928 -  5q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)H2AFY  -     5q31.1   [Description]    (hg38-Dec_2013)
EnsemblH2AFY - 5q31.1 [CytoView hg19]  H2AFY - 5q31.1 [CytoView hg38]
Mapping of homologs : NCBIH2AFY [Mapview hg19]  H2AFY [Mapview hg38]
OMIM610054   
Gene and transcription
Genbank (Entrez)AB209490 AF041483 AF044286 AF054174 AK023409
RefSeq transcript (Entrez)NM_001040158 NM_004893 NM_138609 NM_138610
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_034772 NW_004929323
Consensus coding sequences : CCDS (NCBI)H2AFY
Cluster EST : UnigeneHs.599225 [ NCBI ]
CGAP (NCI)Hs.599225
Alternative Splicing GalleryENSG00000113648
Gene ExpressionH2AFY [ NCBI-GEO ]   H2AFY [ EBI - ARRAY_EXPRESS ]   H2AFY [ SEEK ]   H2AFY [ MEM ]
Gene Expression Viewer (FireBrowse)H2AFY [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9555
GTEX Portal (Tissue expression)H2AFY
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75367   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75367  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75367
Splice isoforms : SwissVarO75367
PhosPhoSitePlusO75367
Domaine pattern : Prosite (Expaxy)MACRO (PS51154)   
Domains : Interpro (EBI)Core_histone_macro-H2A    Histone-fold    Histone_H2A    Histone_H2A/H2B/H3    Histone_H2A_C    Macro_dom   
Domain families : Pfam (Sanger)Histone (PF00125)    Histone_H2A_C (PF16211)    Macro (PF01661)   
Domain families : Pfam (NCBI)pfam00125    pfam16211    pfam01661   
Domain families : Smart (EMBL)A1pp (SM00506)  H2A (SM00414)  
Conserved Domain (NCBI)H2AFY
DMDM Disease mutations9555
Blocks (Seattle)H2AFY
PDB (SRS)1U35    1ZR3    1ZR5    2F8N    2FXK    3HQH    3HSV    3IID    3IIF    3IVB   
PDB (PDBSum)1U35    1ZR3    1ZR5    2F8N    2FXK    3HQH    3HSV    3IID    3IIF    3IVB   
PDB (IMB)1U35    1ZR3    1ZR5    2F8N    2FXK    3HQH    3HSV    3IID    3IIF    3IVB   
PDB (RSDB)1U35    1ZR3    1ZR5    2F8N    2FXK    3HQH    3HSV    3IID    3IIF    3IVB   
Structural Biology KnowledgeBase1U35    1ZR3    1ZR5    2F8N    2FXK    3HQH    3HSV    3IID    3IIF    3IVB   
SCOP (Structural Classification of Proteins)1U35    1ZR3    1ZR5    2F8N    2FXK    3HQH    3HSV    3IID    3IIF    3IVB   
CATH (Classification of proteins structures)1U35    1ZR3    1ZR5    2F8N    2FXK    3HQH    3HSV    3IID    3IIF    3IVB   
SuperfamilyO75367
Human Protein AtlasENSG00000113648
Peptide AtlasO75367
HPRD13624
IPIIPI00304171   IPI00744148   IPI00059366   IPI00148096   IPI00966623   IPI00910098   
Protein Interaction databases
DIP (DOE-UCLA)O75367
IntAct (EBI)O75367
FunCoupENSG00000113648
BioGRIDH2AFY
STRING (EMBL)H2AFY
ZODIACH2AFY
Ontologies - Pathways
QuickGOO75367
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  rDNA binding  nuclear chromosome  nuclear chromosome, telomeric region  nucleosome  nuclear chromatin  condensed chromosome  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  core promoter sequence-specific DNA binding  regulation of cell growth  sex chromatin  Barr body  DNA binding  protein binding  nucleus  pericentric heterochromatin  nucleolus  nucleosome assembly  chromatin silencing  dosage compensation  double-stranded methylated DNA binding  chromatin modification  regulation of lipid metabolic process  enzyme binding  protein kinase binding  protein serine/threonine kinase inhibitor activity  chromatin DNA binding  nucleosomal DNA binding  nucleosomal DNA binding  negative regulation of histone phosphorylation  positive regulation of maintenance of mitotic sister chromatid cohesion  ESC/E(Z) complex  regulation of gene expression, epigenetic  transcription regulatory region DNA binding  positive regulation of keratinocyte differentiation  negative regulation of gene expression, epigenetic  positive regulation of gene expression, epigenetic  protein heterodimerization activity  negative regulation of histone H3-K4 methylation  negative regulation of histone H3-K27 methylation  regulation of chromatin silencing at rDNA  extracellular exosome  establishment of protein localization to chromatin  negative regulation of protein serine/threonine kinase activity  negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter  negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter  negative regulation of cell cycle G2/M phase transition  negative regulation of protein localization to chromosome, telomeric region  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  rDNA binding  nuclear chromosome  nuclear chromosome, telomeric region  nucleosome  nuclear chromatin  condensed chromosome  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  core promoter sequence-specific DNA binding  regulation of cell growth  sex chromatin  Barr body  DNA binding  protein binding  nucleus  pericentric heterochromatin  nucleolus  nucleosome assembly  chromatin silencing  dosage compensation  double-stranded methylated DNA binding  chromatin modification  regulation of lipid metabolic process  enzyme binding  protein kinase binding  protein serine/threonine kinase inhibitor activity  chromatin DNA binding  nucleosomal DNA binding  nucleosomal DNA binding  negative regulation of histone phosphorylation  positive regulation of maintenance of mitotic sister chromatid cohesion  ESC/E(Z) complex  regulation of gene expression, epigenetic  transcription regulatory region DNA binding  positive regulation of keratinocyte differentiation  negative regulation of gene expression, epigenetic  positive regulation of gene expression, epigenetic  protein heterodimerization activity  negative regulation of histone H3-K4 methylation  negative regulation of histone H3-K27 methylation  regulation of chromatin silencing at rDNA  extracellular exosome  establishment of protein localization to chromatin  negative regulation of protein serine/threonine kinase activity  negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter  negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter  negative regulation of cell cycle G2/M phase transition  negative regulation of protein localization to chromosome, telomeric region  
Pathways : KEGGAlcoholism    Systemic lupus erythematosus   
NDEx NetworkH2AFY
Atlas of Cancer Signalling NetworkH2AFY
Wikipedia pathwaysH2AFY
Orthology - Evolution
OrthoDB9555
GeneTree (enSembl)ENSG00000113648
Phylogenetic Trees/Animal Genes : TreeFamH2AFY
HOVERGENO75367
HOGENOMO75367
Homologs : HomoloGeneH2AFY
Homology/Alignments : Family Browser (UCSC)H2AFY
Gene fusions - Rearrangements
Fusion : MitelmanATP2B4/H2AFY [1q32.1/5q31.1]  [t(1;5)(q32;q31)]  
Fusion : MitelmanH2AFY/CNOT6 [5q31.1/5q35.3]  [t(5;5)(q31;q35)]  
Fusion: TCGAH2AFY 5q31.1 CNOT6 5q35.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerH2AFY [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)H2AFY
dbVarH2AFY
ClinVarH2AFY
1000_GenomesH2AFY 
Exome Variant ServerH2AFY
ExAC (Exome Aggregation Consortium)H2AFY (select the gene name)
Genetic variants : HAPMAP9555
Genomic Variants (DGV)H2AFY [DGVbeta]
DECIPHER (Syndromes)5:134670071-134734928  ENSG00000113648
CONAN: Copy Number AnalysisH2AFY 
Mutations
ICGC Data PortalH2AFY 
TCGA Data PortalH2AFY 
Broad Tumor PortalH2AFY
OASIS PortalH2AFY [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICH2AFY  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDH2AFY
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch H2AFY
DgiDB (Drug Gene Interaction Database)H2AFY
DoCM (Curated mutations)H2AFY (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)H2AFY (select a term)
intoGenH2AFY
Cancer3DH2AFY(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610054   
Orphanet
MedgenH2AFY
Genetic Testing Registry H2AFY
NextProtO75367 [Medical]
TSGene9555
GENETestsH2AFY
Huge Navigator H2AFY [HugePedia]
snp3D : Map Gene to Disease9555
BioCentury BCIQH2AFY
ClinGenH2AFY
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9555
Chemical/Pharm GKB GenePA29117
Clinical trialH2AFY
Miscellaneous
canSAR (ICR)H2AFY (select the gene name)
Probes
Litterature
PubMed93 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineH2AFY
EVEXH2AFY
GoPubMedH2AFY
iHOPH2AFY
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:03:19 CEST 2017

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