Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GM2A (GM2 ganglioside activator)

Identity

Alias_namesGM2 ganglioside activator protein
Alias_symbol (synonym)SAP-3
Other aliasGM2-AP
HGNC (Hugo) GM2A
LocusID (NCBI) 2760
Atlas_Id 56880
Location 5q33.1  [Link to chromosome band 5q33]
Location_base_pair Starts at 151253052 and ends at 151270392 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)
CD68 (17p13.1) / GM2A (5q33.1)LOC100130581 () / GM2A (5q33.1)SYN1 (Xp11.23) / GM2A (5q33.1)

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)GM2A   4367
Cards
Entrez_Gene (NCBI)GM2A  2760  GM2 ganglioside activator
AliasesGM2-AP; SAP-3
GeneCards (Weizmann)GM2A
Ensembl hg19 (Hinxton)ENSG00000196743 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196743 [Gene_View]  ENSG00000196743 [Sequence]  chr5:151253052-151270392 [Contig_View]  GM2A [Vega]
ICGC DataPortalENSG00000196743
TCGA cBioPortalGM2A
AceView (NCBI)GM2A
Genatlas (Paris)GM2A
WikiGenes2760
SOURCE (Princeton)GM2A
Genetics Home Reference (NIH)GM2A
Genomic and cartography
GoldenPath hg38 (UCSC)GM2A  -     chr5:151253052-151270392 +  5q33.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GM2A  -     5q33.1   [Description]    (hg19-Feb_2009)
GoldenPathGM2A - 5q33.1 [CytoView hg19]  GM2A - 5q33.1 [CytoView hg38]
ImmunoBaseENSG00000196743
Mapping of homologs : NCBIGM2A [Mapview hg19]  GM2A [Mapview hg38]
OMIM272750   613109   
Gene and transcription
Genbank (Entrez)AK225978 AK298867 AK312494 BC009273 BM834780
RefSeq transcript (Entrez)NM_000405 NM_001167607
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GM2A
Cluster EST : UnigeneHs.483873 [ NCBI ]
CGAP (NCI)Hs.483873
Alternative Splicing GalleryENSG00000196743
Gene ExpressionGM2A [ NCBI-GEO ]   GM2A [ EBI - ARRAY_EXPRESS ]   GM2A [ SEEK ]   GM2A [ MEM ]
Gene Expression Viewer (FireBrowse)GM2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2760
GTEX Portal (Tissue expression)GM2A
Human Protein AtlasENSG00000196743-GM2A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17900   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP17900  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17900
Splice isoforms : SwissVarP17900
PhosPhoSitePlusP17900
Domains : Interpro (EBI)GM2-AP    GM2-AP_sf    ML_dom   
Domain families : Pfam (Sanger)E1_DerP2_DerF2 (PF02221)   
Domain families : Pfam (NCBI)pfam02221   
Domain families : Smart (EMBL)ML (SM00737)  
Conserved Domain (NCBI)GM2A
DMDM Disease mutations2760
Blocks (Seattle)GM2A
PDB (RSDB)1G13    1PU5    1PUB    1TJJ    2AF9    2AG2    2AG4    2AG9   
PDB Europe1G13    1PU5    1PUB    1TJJ    2AF9    2AG2    2AG4    2AG9   
PDB (PDBSum)1G13    1PU5    1PUB    1TJJ    2AF9    2AG2    2AG4    2AG9   
PDB (IMB)1G13    1PU5    1PUB    1TJJ    2AF9    2AG2    2AG4    2AG9   
Structural Biology KnowledgeBase1G13    1PU5    1PUB    1TJJ    2AF9    2AG2    2AG4    2AG9   
SCOP (Structural Classification of Proteins)1G13    1PU5    1PUB    1TJJ    2AF9    2AG2    2AG4    2AG9   
CATH (Classification of proteins structures)1G13    1PU5    1PUB    1TJJ    2AF9    2AG2    2AG4    2AG9   
SuperfamilyP17900
Human Protein Atlas [tissue]ENSG00000196743-GM2A [tissue]
Peptide AtlasP17900
IPIIPI00018236   IPI00954213   IPI00983942   IPI00973862   
Protein Interaction databases
DIP (DOE-UCLA)P17900
IntAct (EBI)P17900
FunCoupENSG00000196743
BioGRIDGM2A
STRING (EMBL)GM2A
ZODIACGM2A
Ontologies - Pathways
QuickGOP17900
Ontology : AmiGOlipid transporter activity  extracellular region  glycosphingolipid metabolic process  ganglioside catabolic process  lipid transport  learning or memory  oligosaccharide catabolic process  cytoplasmic side of plasma membrane  phospholipase activator activity  basolateral plasma membrane  apical plasma membrane  lipid storage  sphingolipid activator protein activity  beta-N-acetylgalactosaminidase activity  azurophil granule lumen  lysosomal lumen  neutrophil degranulation  neuromuscular process controlling balance  positive regulation of hydrolase activity  extracellular exosome  
Ontology : EGO-EBIlipid transporter activity  extracellular region  glycosphingolipid metabolic process  ganglioside catabolic process  lipid transport  learning or memory  oligosaccharide catabolic process  cytoplasmic side of plasma membrane  phospholipase activator activity  basolateral plasma membrane  apical plasma membrane  lipid storage  sphingolipid activator protein activity  beta-N-acetylgalactosaminidase activity  azurophil granule lumen  lysosomal lumen  neutrophil degranulation  neuromuscular process controlling balance  positive regulation of hydrolase activity  extracellular exosome  
Pathways : KEGGLysosome   
NDEx NetworkGM2A
Atlas of Cancer Signalling NetworkGM2A
Wikipedia pathwaysGM2A
Orthology - Evolution
OrthoDB2760
GeneTree (enSembl)ENSG00000196743
Phylogenetic Trees/Animal Genes : TreeFamGM2A
HOGENOMP17900
Homologs : HomoloGeneGM2A
Homology/Alignments : Family Browser (UCSC)GM2A
Gene fusions - Rearrangements
Fusion : QuiverGM2A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGM2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GM2A
dbVarGM2A
ClinVarGM2A
1000_GenomesGM2A 
Exome Variant ServerGM2A
ExAC (Exome Aggregation Consortium)ENSG00000196743
GNOMAD BrowserENSG00000196743
Varsome BrowserGM2A
Genetic variants : HAPMAP2760
Genomic Variants (DGV)GM2A [DGVbeta]
DECIPHERGM2A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGM2A 
Mutations
ICGC Data PortalGM2A 
TCGA Data PortalGM2A 
Broad Tumor PortalGM2A
OASIS PortalGM2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGM2A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGM2A
Mutations and Diseases : HGMDGM2A
BioMutasearch GM2A
DgiDB (Drug Gene Interaction Database)GM2A
DoCM (Curated mutations)GM2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GM2A (select a term)
intoGenGM2A
Cancer3DGM2A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM272750    613109   
Orphanet
DisGeNETGM2A
MedgenGM2A
Genetic Testing Registry GM2A
NextProtP17900 [Medical]
TSGene2760
GENETestsGM2A
Target ValidationGM2A
Huge Navigator GM2A [HugePedia]
snp3D : Map Gene to Disease2760
BioCentury BCIQGM2A
ClinGenGM2A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2760
Chemical/Pharm GKB GenePA28752
Clinical trialGM2A
Miscellaneous
canSAR (ICR)GM2A (select the gene name)
DataMed IndexGM2A
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGM2A
EVEXGM2A
GoPubMedGM2A
iHOPGM2A
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 17:45:04 CET 2019
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