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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. GM2A, GM2 ganglioside activator
Sequence ID:NM_000405
NM_001167607
RefSeqGene ID:NG_009059
Entrez Gene ID:2760
Ensembl ID:ENSG00000196743

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
GM2-GANGLIOSIDOSIS, AB VARIANT 

Cytogenetic Location (from UniGene)

Cytogenetic Location:5q33.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:5: 150648760 - 150651320

 Exon Info From UCSC:
NM_000405
NM_001167607

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4053681Full LengthBC009273GM2 ganglioside activator

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000405 NP_000396 P17900  
NM_001167607 NP_001161079    

Related Sequences

 
mRNAGenPeptSwissProt
M76477 AAA35907 P17900
L01439 AAA52767 P17900
BC009273 AAH09273 P17900
DQ891914 ABM82840  
DQ895098 ABM86024  
AK312494 BAG35396 P17900
AK298867 BAG60987 B4DQM5
X16087 CAA34215 P17900
X61094 CAA43407 Q14427
X61095 CAA43408 P17900
X62078 CAA43993 P17900
X62078 CAA43994 P17900

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens GM2A NP_000396 M.musculus Gm2a 14667 Gene Info NP_034429 73
R.norvegicus Gm2a 282838   NP_758838 71

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)