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Aliases for GM2A Gene

Aliases for GM2A Gene

  • GM2 Ganglioside Activator 2 3
  • Cerebroside Sulfate Activator Protein 2 3 4
  • Sphingolipid Activator Protein 3 2 3 4
  • GM2-AP 3 4
  • SAP-3 3 4
  • GM2 Ganglioside Activator Protein 2
  • Shingolipid Activator Protein 3 3
  • Ganglioside GM2 Activator 3

External Ids for GM2A Gene

Summaries for GM2A Gene

Entrez Gene Summary for GM2A Gene

  • This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

GeneCards Summary for GM2A Gene

GM2A (GM2 Ganglioside Activator) is a Protein Coding gene. Diseases associated with GM2A include gm2-gangliosidosis, ab variant and tay-sachs disease. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include beta-N-acetylhexosaminidase activity and sphingolipid activator protein activity.

UniProtKB/Swiss-Prot for GM2A Gene

  • The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3.

Gene Wiki entry for GM2A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GM2A Gene

Genomics for GM2A Gene

Genomic Location for GM2A Gene

Start:
151,212,150 bp from pter
End:
151,270,440 bp from pter
Size:
58,291 bases
Orientation:
Plus strand

Genomic View for GM2A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GM2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GM2A Gene

Regulatory Elements for GM2A Gene

Proteins for GM2A Gene

  • Protein details for GM2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17900-SAP3_HUMAN
    Recommended name:
    Ganglioside GM2 activator
    Protein Accession:
    P17900
    Secondary Accessions:
    • B2R699
    • D3DQH6
    • Q14426
    • Q14428
    • Q6LBL5

    Protein attributes for GM2A Gene

    Size:
    193 amino acids
    Molecular mass:
    20838 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAA43408.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA43994.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GM2A Gene

neXtProt entry for GM2A Gene

Proteomics data for GM2A Gene at MOPED

Post-translational modifications for GM2A Gene

  • The serines in positions 32 and 33 are absent in 80% of the sequenced protein
  • Glycosylation at Asn63

Other Protein References for GM2A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GM2A Gene

Domains for GM2A Gene

Protein Domains for GM2A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GM2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GM2A: view

No data available for Gene Families and UniProtKB/Swiss-Prot for GM2A Gene

Function for GM2A Gene

Molecular function for GM2A Gene

GENATLAS Biochemistry: ganglioside GM2 activator protein,22kDa,liposomal catalyzing degradation of glycosphingolipids with terminal alpha-galactosyl residues in most non neuronal tissues and in body fluids
UniProtKB/Swiss-Prot Function: The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3.

Gene Ontology (GO) - Molecular Function for GM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004563 beta-N-acetylhexosaminidase activity --
GO:0005319 lipid transporter activity IEA --
GO:0008047 enzyme activator activity --
GO:0016004 phospholipase activator activity IEA --
GO:0032428 beta-N-acetylgalactosaminidase activity IEA --
genes like me logo Genes that share ontologies with GM2A: view

Phenotypes for GM2A Gene

genes like me logo Genes that share phenotypes with GM2A: view

Animal Models for GM2A Gene

MGI Knock Outs for GM2A:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for GM2A Gene

Localization for GM2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for GM2A Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GM2A Gene COMPARTMENTS Subcellular localization image for GM2A gene
Compartment Confidence
lysosome 5
vacuole 5
nucleus 4
cytosol 3
extracellular 3
mitochondrion 2
endoplasmic reticulum 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IEA --
GO:0005764 lysosome --
GO:0005889 hydrogen:potassium-exchanging ATPase complex IEA --
GO:0009898 cytoplasmic side of plasma membrane IEA --
genes like me logo Genes that share ontologies with GM2A: view

Pathways for GM2A Gene

genes like me logo Genes that share pathways with GM2A: view

Pathways by source for GM2A Gene

Gene Ontology (GO) - Biological Process for GM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001573 ganglioside metabolic process --
GO:0006665 sphingolipid metabolic process TAS --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006689 ganglioside catabolic process IEA --
GO:0006869 lipid transport IEA --
genes like me logo Genes that share ontologies with GM2A: view

Compounds for GM2A Gene

(530) HMDB Compounds for GM2A Gene

Compound Synonyms Cas Number PubMed IDs
3-Dehydrosphinganine
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4

(4) Drugbank Compounds for GM2A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Glycerylphosphorylcholine
  • 2-{[(2R)-2,3-dihydroxypropoxy](hydroxy)phosphoryloxy}-N,N,N-trimethylethanaminium
563-24-6 target
Lpc-Ether
target
MYRISTIC ACID
target
Platelet Activating Factor
74389-68-7 target

(5) Novoseek inferred chemical compound relationships for GM2A Gene

Compound -log(P) Hits PubMed IDs
ganglioside 87.2 21
sulfatide 67.9 2
mannose 6-phosphate 64 2
glycolipid 62.9 2
lipid 25 14
genes like me logo Genes that share compounds with GM2A: view

Transcripts for GM2A Gene

Unigene Clusters for GM2A Gene

GM2 ganglioside activator:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GM2A Gene

No ASD Table

Relevant External Links for GM2A Gene

GeneLoc Exon Structure for
GM2A
ECgene alternative splicing isoforms for
GM2A

Expression for GM2A Gene

mRNA expression in normal human tissues for GM2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GM2A Gene

SOURCE GeneReport for Unigene cluster for GM2A Gene Hs.483873

genes like me logo Genes that share expressions with GM2A: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GM2A Gene

Orthologs for GM2A Gene

This gene was present in the common ancestor of chordates.

Orthologs for GM2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GM2A 35
  • 99.31 (n)
  • 98.96 (a)
GM2A 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GM2A 35
  • 76.91 (n)
  • 65.1 (a)
GM2A 36
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GM2A 35
  • 74.86 (n)
  • 57.71 (a)
GM2A 36
  • 57 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm2a 35
  • 77.64 (n)
  • 73.65 (a)
Gm2a 16
Gm2a 36
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GM2A 36
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GM2A 36
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gm2a 35
  • 78.24 (n)
  • 74.85 (a)
chicken
(Gallus gallus)
Aves GM2A 35
  • 66.87 (n)
  • 54.32 (a)
GM2A 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GM2A 36
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gm2a 35
  • 60.04 (n)
  • 52.17 (a)
zebrafish
(Danio rerio)
Actinopterygii gm2a 35
  • 58.43 (n)
  • 57.83 (a)
gm2a 36
  • 49 (a)
OneToMany
GM2A (2 of 2) 36
  • 30 (a)
OneToMany
Species with no ortholog for GM2A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GM2A Gene

ENSEMBL:
Gene Tree for GM2A (if available)
TreeFam:
Gene Tree for GM2A (if available)

Paralogs for GM2A Gene

Pseudogenes.org Pseudogenes for GM2A Gene

genes like me logo Genes that share paralogs with GM2A: view

No data available for Paralogs for GM2A Gene

Variants for GM2A Gene

Sequence variations from dbSNP and Humsavar for GM2A Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs989 -- 151,267,678(+) AGGGC(A/G)TCTGC utr-variant-3-prime
rs11262 -- 151,268,932(+) GTCCG(G/T)TCCCA utr-variant-3-prime
rs15860 -- 151,268,464(+) CCTTT(C/T)TGATT utr-variant-3-prime
rs16838 -- 151,259,601(+) CCCAG(C/G)TTCAT intron-variant
rs149174 -- 151,268,395(+) TGATC(C/T)GTCCA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GM2A Gene

Variant ID Type Subtype PubMed ID
nsv527485 CNV Loss 19592680

Relevant External Links for GM2A Gene

HapMap Linkage Disequilibrium report
GM2A
Human Gene Mutation Database (HGMD)
GM2A
Locus Specific Mutation Databases (LSDB)
GM2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GM2A Gene

Disorders for GM2A Gene

(1) OMIM Diseases for GM2A Gene (613109)

UniProtKB/Swiss-Prot

SAP3_HUMAN
  • GM2-gangliosidosis AB (GM2GAB) [MIM:272750]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the presence of both normal hexosaminidase A and B. {ECO:0000269 PubMed:1915858, ECO:0000269 PubMed:8244332, ECO:0000269 PubMed:8900233}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for GM2A Gene

(8) Novoseek inferred disease relationships for GM2A Gene

Disease -log(P) Hits PubMed IDs
gangliosidosis gm2 ab variant 94.4 2
gm2 gangliosidosis 90.1 5
tay-sachs disease 83.8 4
sandhoff disease 78.3 2
i-cell disease 74.6 2

Genatlas disease for GM2A Gene

GM2 gangliosidosis,AB variant

Relevant External Links for GM2A

Genetic Association Database (GAD)
GM2A
Human Genome Epidemiology (HuGE) Navigator
GM2A
genes like me logo Genes that share disorders with GM2A: view

Publications for GM2A Gene

  1. The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein. (PMID: 2209618) Furst W. … Sandhoff K. (Eur. J. Biochem. 1990) 3 4 23
  2. Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. (PMID: 8900233) Schepers U. … Sandhoff K. (Am. J. Hum. Genet. 1996) 3 4 23
  3. Crystal structure of human GM2-activator protein with a novel beta- cup topology. (PMID: 11090283) Wright C.S. … Rastinejad F. (J. Mol. Biol. 2000) 3 4 23
  4. Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein. (PMID: 1915857) Klima H. … Sandhoff K. (FEBS Lett. 1991) 2 3 4
  5. A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. (PMID: 1915858) Schroeder M. … Sandhoff K. (FEBS Lett. 1991) 3 4

Products for GM2A Gene

Sources for GM2A Gene

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