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MACROH2A2 (macroH2A.2 histone)

Identity

Alias_namesH2AFY2
H2A histone family, member Y2
H2A histone family member Y2
Alias_symbol (synonym)macroH2A2
Other alias
HGNC (Hugo) MACROH2A2
LocusID (NCBI) 55506
Atlas_Id 51204
Location 10q22.1  [Link to chromosome band 10q22]
Location_base_pair Starts at 70052601 and ends at 70112284 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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


External links

Nomenclature
HGNC (Hugo)MACROH2A2   14453
Cards
Entrez_Gene (NCBI)MACROH2A2  55506  macroH2A.2 histone
AliasesH2AFY2
GeneCards (Weizmann)MACROH2A2
Ensembl hg19 (Hinxton)ENSG00000099284 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000099284 [Gene_View]  ENSG00000099284 [Sequence]  chr10:70052601-70112284 [Contig_View]  MACROH2A2 [Vega]
ICGC DataPortalENSG00000099284
TCGA cBioPortalMACROH2A2
AceView (NCBI)MACROH2A2
Genatlas (Paris)MACROH2A2
WikiGenes55506
SOURCE (Princeton)MACROH2A2
Genetics Home Reference (NIH)MACROH2A2
Genomic and cartography
GoldenPath hg38 (UCSC)MACROH2A2  -     chr10:70052601-70112284 +  -   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MACROH2A2  -     -   [Description]    (hg19-Feb_2009)
GoldenPathMACROH2A2 - - [CytoView hg19]  MACROH2A2 - - [CytoView hg38]
ImmunoBaseENSG00000099284
Mapping of homologs : NCBIMACROH2A2 [Mapview hg19]  MACROH2A2 [Mapview hg38]
OMIM616141   
Gene and transcription
Genbank (Entrez)AF151534 AF336304 AK022475 AK022776 AK131057
RefSeq transcript (Entrez)NM_018649
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MACROH2A2
Cluster EST : UnigeneHs.499953 [ NCBI ]
CGAP (NCI)Hs.499953
Alternative Splicing GalleryENSG00000099284
Gene ExpressionMACROH2A2 [ NCBI-GEO ]   MACROH2A2 [ EBI - ARRAY_EXPRESS ]   MACROH2A2 [ SEEK ]   MACROH2A2 [ MEM ]
Gene Expression Viewer (FireBrowse)MACROH2A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55506
GTEX Portal (Tissue expression)MACROH2A2
Human Protein AtlasENSG00000099284-MACROH2A2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P0M6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P0M6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P0M6
Splice isoforms : SwissVarQ9P0M6
PhosPhoSitePlusQ9P0M6
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    Macro_H2A   
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)MACROH2A2
DMDM Disease mutations55506
Blocks (Seattle)MACROH2A2
PDB (RSDB)2XD7   
PDB Europe2XD7   
PDB (PDBSum)2XD7   
PDB (IMB)2XD7   
Structural Biology KnowledgeBase2XD7   
SCOP (Structural Classification of Proteins)2XD7   
CATH (Classification of proteins structures)2XD7   
SuperfamilyQ9P0M6
Human Protein Atlas [tissue]ENSG00000099284-MACROH2A2 [tissue]
Peptide AtlasQ9P0M6
HPRD13625
IPIIPI00220994   IPI00514864   IPI01014852   
Protein Interaction databases
DIP (DOE-UCLA)Q9P0M6
IntAct (EBI)Q9P0M6
FunCoupENSG00000099284
BioGRIDMACROH2A2
STRING (EMBL)MACROH2A2
ZODIACMACROH2A2
Ontologies - Pathways
QuickGOQ9P0M6
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  nuclear chromosome, telomeric region  nucleosome  nuclear chromatin  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  Barr body  DNA binding  nucleoplasm  chromatin organization  nucleosome assembly  brain development  dosage compensation  chromatin DNA binding  transcription regulatory region DNA binding  positive regulation of keratinocyte differentiation  negative regulation of gene expression, epigenetic  protein heterodimerization activity  extracellular exosome  establishment of protein localization to chromatin  negative regulation of transcription of nucleolar large rRNA by RNA polymerase I  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  nuclear chromosome, telomeric region  nucleosome  nuclear chromatin  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  Barr body  DNA binding  nucleoplasm  chromatin organization  nucleosome assembly  brain development  dosage compensation  chromatin DNA binding  transcription regulatory region DNA binding  positive regulation of keratinocyte differentiation  negative regulation of gene expression, epigenetic  protein heterodimerization activity  extracellular exosome  establishment of protein localization to chromatin  negative regulation of transcription of nucleolar large rRNA by RNA polymerase I  
NDEx NetworkMACROH2A2
Atlas of Cancer Signalling NetworkMACROH2A2
Wikipedia pathwaysMACROH2A2
Orthology - Evolution
OrthoDB55506
GeneTree (enSembl)ENSG00000099284
Phylogenetic Trees/Animal Genes : TreeFamMACROH2A2
HOGENOMQ9P0M6
Homologs : HomoloGeneMACROH2A2
Homology/Alignments : Family Browser (UCSC)MACROH2A2
Gene fusions - Rearrangements
Fusion : QuiverMACROH2A2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMACROH2A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MACROH2A2
dbVarMACROH2A2
ClinVarMACROH2A2
1000_GenomesMACROH2A2 
Exome Variant ServerMACROH2A2
ExAC (Exome Aggregation Consortium)ENSG00000099284
GNOMAD BrowserENSG00000099284
Varsome BrowserMACROH2A2
Genetic variants : HAPMAP55506
Genomic Variants (DGV)MACROH2A2 [DGVbeta]
DECIPHERMACROH2A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMACROH2A2 
Mutations
ICGC Data PortalMACROH2A2 
TCGA Data PortalMACROH2A2 
Broad Tumor PortalMACROH2A2
OASIS PortalMACROH2A2 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDMACROH2A2
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 MACROH2A2
DgiDB (Drug Gene Interaction Database)MACROH2A2
DoCM (Curated mutations)MACROH2A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MACROH2A2 (select a term)
intoGenMACROH2A2
Cancer3DMACROH2A2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616141   
Orphanet
DisGeNETMACROH2A2
MedgenMACROH2A2
Genetic Testing Registry MACROH2A2
NextProtQ9P0M6 [Medical]
TSGene55506
GENETestsMACROH2A2
Target ValidationMACROH2A2
Huge Navigator MACROH2A2 [HugePedia]
snp3D : Map Gene to Disease55506
BioCentury BCIQMACROH2A2
ClinGenMACROH2A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55506
Chemical/Pharm GKB GenePA29118
Clinical trialMACROH2A2
Miscellaneous
canSAR (ICR)MACROH2A2 (select the gene name)
DataMed IndexMACROH2A2
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMACROH2A2
EVEXMACROH2A2
GoPubMedMACROH2A2
iHOPMACROH2A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:52:12 CET 2019

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