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Aliases for GM2A Gene

Aliases for GM2A Gene

  • GM2 Ganglioside Activator 2 3 5
  • 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

Previous GeneCards Identifiers for GM2A Gene

  • GC05P150701
  • GC05P150615
  • GC05P150661
  • GC05P150612
  • GC05P145777

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 Innate Immune System and Metabolism. GO annotations related to this gene include enzyme activator activity and phospholipase activator 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GM2A Gene

Genomics for GM2A Gene

Regulatory Elements for GM2A Gene

Enhancers for GM2A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G151208 2 FANTOM5 Ensembl ENCODE dbSUPER 69 +4.3 4311 16.9 HDGF FOXA2 PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 SIN3A YY1 ZNF766 GM2A TNIP1 ANXA6 CCDC69 SLC36A1 LINC01933 DCTN4
GH05G151237 1.4 Ensembl ENCODE dbSUPER 85.4 +26.5 26488 1.9 HDGF TBL1XR1 ARID4B RAD21 YY1 EGR1 ELK1 SCRT2 ZNF143 RELB GM2A CCDC69 SLC36A3
GH05G151250 1.7 FANTOM5 ENCODE dbSUPER 28.7 +43.1 43146 9.0 HDGF FOXA2 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 GM2A ANXA6 SLC36A1 TNIP1 CCDC69 DCTN4 SMIM3 SLC36A3
GH05G151229 0.7 dbSUPER 66 +18.0 18040 1.0 GATAD2A ZNF263 SP5 NR2F1 RAD21 NR2F2 RARA JUND ATF3 IKZF1 GM2A ANXA6 CCDC69 SLC36A3
GH05G151263 1.3 Ensembl ENCODE dbSUPER 17.5 +52.3 52291 2.1 NFIB SIN3A FEZF1 ZNF335 GLIS2 ZNF366 FOS EGR2 JUNB ZNF592 GM2A CCDC69 SLC36A3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GM2A on UCSC Golden Path with GeneCards custom track

Genomic Location for GM2A Gene

Chromosome:
5
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

Genes around GM2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GM2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GM2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for GM2A Gene

  • The serines in positions 32 and 33 are absent in 80% of the sequenced protein.
  • Glycosylation at isoforms=63

Other Protein References for GM2A Gene

Antibody Products

  • Abcam antibodies for GM2A
  • Santa Cruz Biotechnology (SCBT) Antibodies for GM2A

Protein Products

  • Abcam proteins for GM2A

No data available for DME Specific Peptides for GM2A Gene

Domains & Families 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 IEA --
GO:0005319 lipid transporter activity IEA --
GO:0008047 enzyme activator activity IEA --
GO:0016004 phospholipase activator activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with GM2A: view
genes like me logo Genes that share phenotypes with GM2A: view

Human Phenotype Ontology for GM2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GM2A Gene

MGI Knock Outs for GM2A:

Animal Model Products

Inhibitory RNA Products

Clone Products

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

Localization for GM2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for GM2A Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GM2A gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for GM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005764 lysosome IEA --
GO:0005889 hydrogen:potassium-exchanging ATPase complex IEA --
genes like me logo Genes that share ontologies with GM2A: view

Pathways & Interactions 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:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
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

No data available for SIGNOR curated interactions for GM2A Gene

Drugs & Compounds for GM2A Gene

(10) Drugs for GM2A Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved Pharma Target 0
lauric acid Experimental Pharma Agonist, Target 0
Choline alfoscerate Experimental Pharma Target 0
Lpc-Ether Experimental Pharma Target 0
MYRISTIC ACID Experimental Pharma Target 0

(472) Additional Compounds for GM2A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with GM2A: view

Transcripts for GM2A Gene

mRNA/cDNA for GM2A Gene

Unigene Clusters for GM2A Gene

GM2 ganglioside activator:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for GM2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GM2A Gene

This gene is overexpressed in Urine (25.2) and Bone (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GM2A Gene



NURSA nuclear receptor signaling pathways regulating expression of GM2A Gene:

GM2A

SOURCE GeneReport for Unigene cluster for GM2A Gene:

Hs.483873

Evidence on tissue expression from TISSUES for GM2A Gene

  • Nervous system(4.9)
  • Kidney(4.4)
  • Lung(3.7)
  • Skin(2.7)
  • Blood(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GM2A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • epiglottis
  • eye
  • head
  • mouth
  • neck
  • pharynx
Thorax:
  • bronchus
  • lung
  • trachea
General:
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with GM2A: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners 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 34 35
  • 99.31 (n)
rat
(Rattus norvegicus)
Mammalia Gm2a 34
  • 78.24 (n)
mouse
(Mus musculus)
Mammalia Gm2a 34 16 35
  • 77.64 (n)
cow
(Bos Taurus)
Mammalia GM2A 34 35
  • 76.91 (n)
dog
(Canis familiaris)
Mammalia GM2A 34 35
  • 74.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GM2A 35
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GM2A 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves GM2A 34 35
  • 66.87 (n)
lizard
(Anolis carolinensis)
Reptilia GM2A 35
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gm2a 34
  • 60.04 (n)
zebrafish
(Danio rerio)
Actinopterygii gm2a 34 35
  • 58.43 (n)
GM2A (2 of 2) 35
  • 30 (a)
OneToMany
Species where no ortholog for GM2A was found in the sources mined by GeneCards:
  • 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
rs104893892 Pathogenic, GM2-gangliosidosis AB (GM2GAB) [MIM:272750] 151,267,375(+) CTACC(A/C/G)CATAG intron-variant, reference, missense
rs137852797 Pathogenic, GM2-gangliosidosis AB (GM2GAB) [MIM:272750] 151,266,899(+) GCCAC(C/T)GTCCC reference, missense
rs104893897 Pathogenic 151,259,833(+) CTCTG(G/T)AGCCT reference, stop-gained
rs587779405 Pathogenic 151,266,820(+) CACTT(-/C)TGTGA reference, frameshift-variant
rs730882196 Pathogenic 151,259,837(+) GGAGC(C/T)TGACC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv1032558 CNV loss 25217958
nsv527485 CNV loss 19592680

Variation tolerance for GM2A Gene

Residual Variation Intolerance Score: 75.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.84; 58.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GM2A Gene

Human Gene Mutation Database (HGMD)
GM2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GM2A

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

Disorders for GM2A Gene

MalaCards: The human disease database

(7) MalaCards diseases for GM2A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gm2-gangliosidosis, ab variant
  • tay-sachs disease ab variant
tay-sachs disease
  • gm2-gangliosidosis, several forms
sandhoff disease, infantile, juvenile, and adult forms
  • sandhoff disease
mucolipidosis ii alpha/beta
  • i-cell disease
gangliosidosis gm2
  • gm>2< gangliosidosis
- elite association - COSMIC cancer census association via MalaCards
Search GM2A in MalaCards View complete list of genes associated with diseases

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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GM2A
genes like me logo Genes that share disorders with GM2A: view

Publications for GM2A Gene

  1. 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 22 64
  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 22 64
  3. 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 64
  4. 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 22 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for GM2A Gene

Sources for GM2A Gene

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