Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MACROH2A1 (macroH2A.1 histone)

Identity

Alias_namesH2AFY
H2A histone family, member Y
H2A histone family member Y
Alias_symbol (synonym)macroH2A1.2
Other aliasH2A.y
H2A/y
H2AF12M
MACROH2A1.1
mH2A1
HGNC (Hugo) MACROH2A1
LocusID (NCBI) 9555
Atlas_Id 58143
Location 5q31.1  [Link to chromosome band 5q31]
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)MACROH2A1   4740
Cards
Entrez_Gene (NCBI)MACROH2A1  9555  macroH2A.1 histone
AliasesH2A.y; H2A/y; H2AF12M; H2AFY; 
MACROH2A1.1; mH2A1; macroH2A1.2
GeneCards (Weizmann)MACROH2A1
Ensembl hg19 (Hinxton)ENSG00000113648 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113648 [Gene_View]  ENSG00000113648 [Sequence]  - [Contig_View]  MACROH2A1 [Vega]
ICGC DataPortalENSG00000113648
TCGA cBioPortalMACROH2A1
AceView (NCBI)MACROH2A1
Genatlas (Paris)MACROH2A1
WikiGenes9555
SOURCE (Princeton)MACROH2A1
Genetics Home Reference (NIH)MACROH2A1
Genomic and cartography
GoldenPath hg38 (UCSC)MACROH2A1  -  
GoldenPath hg19 (UCSC)MACROH2A1  -  
GoldenPathMACROH2A1 - [CytoView hg19]  MACROH2A1 - [CytoView hg38]
ImmunoBaseENSG00000113648
Mapping of homologs : NCBIMACROH2A1 [Mapview hg19]  MACROH2A1 [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)
Consensus coding sequences : CCDS (NCBI)MACROH2A1
Alternative Splicing GalleryENSG00000113648
Gene ExpressionMACROH2A1 [ NCBI-GEO ]   MACROH2A1 [ EBI - ARRAY_EXPRESS ]   MACROH2A1 [ SEEK ]   MACROH2A1 [ MEM ]
Gene Expression Viewer (FireBrowse)MACROH2A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9555
GTEX Portal (Tissue expression)MACROH2A1
Human Protein AtlasENSG00000113648-MACROH2A1 [pathology]   [cell]   [tissue]
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    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)MACROH2A1
DMDM Disease mutations9555
Blocks (Seattle)MACROH2A1
PDB (RSDB)1U35    1ZR3    1ZR5    2F8N    2FXK    3HQH    3HSV    3IID    3IIF    3IVB    5IIT    5LNC   
PDB Europe1U35    1ZR3    1ZR5    2F8N    2FXK    3HQH    3HSV    3IID    3IIF    3IVB    5IIT    5LNC   
PDB (PDBSum)1U35    1ZR3    1ZR5    2F8N    2FXK    3HQH    3HSV    3IID    3IIF    3IVB    5IIT    5LNC   
PDB (IMB)1U35    1ZR3    1ZR5    2F8N    2FXK    3HQH    3HSV    3IID    3IIF    3IVB    5IIT    5LNC   
Structural Biology KnowledgeBase1U35    1ZR3    1ZR5    2F8N    2FXK    3HQH    3HSV    3IID    3IIF    3IVB    5IIT    5LNC   
SCOP (Structural Classification of Proteins)1U35    1ZR3    1ZR5    2F8N    2FXK    3HQH    3HSV    3IID    3IIF    3IVB    5IIT    5LNC   
CATH (Classification of proteins structures)1U35    1ZR3    1ZR5    2F8N    2FXK    3HQH    3HSV    3IID    3IIF    3IVB    5IIT    5LNC   
SuperfamilyO75367
Human Protein Atlas [tissue]ENSG00000113648-MACROH2A1 [tissue]
Peptide AtlasO75367
IPIIPI00304171   IPI00744148   IPI00059366   IPI00148096   IPI00966623   IPI00910098   
Protein Interaction databases
DIP (DOE-UCLA)O75367
IntAct (EBI)O75367
FunCoupENSG00000113648
BioGRIDMACROH2A1
STRING (EMBL)MACROH2A1
ZODIACMACROH2A1
Ontologies - Pathways
QuickGOO75367
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  rDNA binding  nuclear chromosome  nuclear chromosome, telomeric region  nucleosome  nuclear chromatin  nuclear chromatin  condensed chromosome  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  sex chromatin  Barr body  DNA binding  DNA binding  protein binding  nucleus  nucleoplasm  pericentric heterochromatin  nucleolus  chromatin organization  nucleosome assembly  dosage compensation  double-stranded methylated DNA binding  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  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 nucleolar large rRNA by RNA polymerase I  negative regulation of transcription of nucleolar large rRNA by RNA polymerase I  negative regulation of cell cycle G2/M phase transition  regulation of response to oxidative stress  negative regulation of protein localization to chromosome, telomeric region  promoter-specific chromatin binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  rDNA binding  nuclear chromosome  nuclear chromosome, telomeric region  nucleosome  nuclear chromatin  nuclear chromatin  condensed chromosome  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  sex chromatin  Barr body  DNA binding  DNA binding  protein binding  nucleus  nucleoplasm  pericentric heterochromatin  nucleolus  chromatin organization  nucleosome assembly  dosage compensation  double-stranded methylated DNA binding  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  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 nucleolar large rRNA by RNA polymerase I  negative regulation of transcription of nucleolar large rRNA by RNA polymerase I  negative regulation of cell cycle G2/M phase transition  regulation of response to oxidative stress  negative regulation of protein localization to chromosome, telomeric region  promoter-specific chromatin binding  
NDEx NetworkMACROH2A1
Atlas of Cancer Signalling NetworkMACROH2A1
Wikipedia pathwaysMACROH2A1
Orthology - Evolution
OrthoDB9555
GeneTree (enSembl)ENSG00000113648
Phylogenetic Trees/Animal Genes : TreeFamMACROH2A1
HOGENOMO75367
Homologs : HomoloGeneMACROH2A1
Homology/Alignments : Family Browser (UCSC)MACROH2A1
Gene fusions - Rearrangements
Fusion : QuiverMACROH2A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMACROH2A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MACROH2A1
dbVarMACROH2A1
ClinVarMACROH2A1
1000_GenomesMACROH2A1 
Exome Variant ServerMACROH2A1
ExAC (Exome Aggregation Consortium)ENSG00000113648
GNOMAD BrowserENSG00000113648
Varsome BrowserMACROH2A1
Genetic variants : HAPMAP9555
Genomic Variants (DGV)MACROH2A1 [DGVbeta]
DECIPHERMACROH2A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMACROH2A1 
Mutations
ICGC Data PortalMACROH2A1 
TCGA Data PortalMACROH2A1 
Broad Tumor PortalMACROH2A1
OASIS PortalMACROH2A1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDMACROH2A1
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 MACROH2A1
DgiDB (Drug Gene Interaction Database)MACROH2A1
DoCM (Curated mutations)MACROH2A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MACROH2A1 (select a term)
intoGenMACROH2A1
Cancer3DMACROH2A1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610054   
Orphanet
DisGeNETMACROH2A1
MedgenMACROH2A1
Genetic Testing Registry MACROH2A1
NextProtO75367 [Medical]
TSGene9555
GENETestsMACROH2A1
Target ValidationMACROH2A1
Huge Navigator MACROH2A1 [HugePedia]
snp3D : Map Gene to Disease9555
BioCentury BCIQMACROH2A1
ClinGenMACROH2A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9555
Chemical/Pharm GKB GenePA29117
Clinical trialMACROH2A1
Miscellaneous
canSAR (ICR)MACROH2A1 (select the gene name)
HarmonizomeMACROH2A1
DataMed IndexMACROH2A1
Probes
Litterature
PubMed139 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMACROH2A1
EVEXMACROH2A1
GoPubMedMACROH2A1
iHOPMACROH2A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Mar 11 19:15:51 CET 2020

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