Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GM2A Gene

protein-coding GIFtS: 56
GCID: GC05P150612

GM2 ganglioside activator

(Previous name: GM2 ganglioside activator protein )

Explore 14 diseases affiliated with
GM2A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
GM2 Ganglioside Activator¹ ²		GM2-AP² ³
SAP-3¹ ² ³		GM2 Ganglioside Activator Protein¹
Cerebroside Sulfate Activator Protein² ³		Ganglioside GM2 Activator²
Shingolipid Activator Protein 3² ³		Sphingolipid Activator Protein 3²

External Ids:	HGNC: 4367¹	Entrez Gene: 2760²	Ensembl: ENSG00000196743⁷	OMIM: 613109⁵	UniProtKB: P17900³

Export aliases for GM2A gene to outside databases

Previous GC identifers: GC05P150701 GC05P151229 GC05P150615 GC05P150661 GC05P145777

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GM2A:

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)

UniProtKB/Swiss-Prot: SAP3_HUMAN, P17900

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 Wiki entry for GM2A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_029289.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GM2A gene promoter:
POU3F1 NRSF form 1 Nkx2-5 NF-E2 p45 NRSF form 2 PPAR-gamma1 PPAR-gamma2 NF-E2 MRF-2 ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GM2A promoter sequence

Search SABiosciences Chromatin IP Primers for GM2A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GM2A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q33.1 Ensembl cytogenetic band: 5q33.1 HGNC cytogenetic band: 5q33.1

GM2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GM2A gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P150612: view genomic region (about GC identifiers)

Start:	150,591,711 bp from pter	End:	150,650,001 bp from pter
Size:	58,291 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SAP3_HUMAN, P17900 (See protein sequence)

Recommended Name: Ganglioside GM2 activator precursor

Size: 193 amino acids; 20838 Da

Subcellular location: Lysosome

Sequence caution: Sequence=CAA43408.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=CAA43994.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

6/8 PDB 3D structures from and Proteopedia for GM2A (see all 8):

1G13 (3D)

1PU5 (3D)

1PUB (3D)

1TJJ (3D)

2AF9 (3D)

2AG2 (3D)

Secondary accessions: B2R699 D3DQH6 Q14426 Q14428 Q6LBL5

Explore the universe of human proteins at neXtProt for GM2A: NX_P17900

Post-translational modifications:

The serines in positions 32 and 33 are absent in 80% of the sequenced protein¹

View neXtProt modification sites for NX_P17900

GM2A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000396.2 NP_001161079.1

ENSEMBL proteins:

ENSP00000429100 ENSP00000349687 ENSP00000430541

Reactome Protein details: P17900
Human Recombinant Protein Products for GM2A:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: GM2A OriGene Protein Over-expression Lysate (see all 2): GM2A OriGene Custom Protein Services for GM2A
	GenScript Custom Purified and Recombinant Proteins Services for GM2A
	Novus Biologicals GM2A Proteins Novus Biologicals GM2A Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for GM2A

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005730	nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	IEA	--
GO:0005764	lysosome	NAS	--
GO:0043202	lysosomal lumen	TAS	--

GM2A for ontologies About GeneDecksing

GM2A Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for GM2A
	GenScript Custom Superior Antibodies Services for GM2A
	Novus Biologicals GM2A Antibodies
	Abcam antibodies for GM2A
	Uscn Antibodies for GM2A
	ThermoFisher Antibodies for GM2A

Assay Products for GM2A:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for GM2A
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for GM2A

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GM2A for domains About GeneDecksing

1 InterPro domain/family:

IPR003172 MD-2_lipid-recog

Graphical View of Domain Structure for InterPro Entry P17900

ProtoNet protein and cluster: P17900

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SAP3_HUMAN, P17900

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

Genatlas biochemistry entry for GM2A:

ganglioside GM2 activator protein,22kDa,liposomal catalyzing degradation of glycosphingolipids with terminal

alpha-galactosyl residues in most non neuronal tissues and in body fluids

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004563	beta-N-acetylhexosaminidase activity	IEA	--
GO:0008047	enzyme activator activity	--	--
GO:0030290	sphingolipid activator protein activity	NAS	--

GM2A for ontologies About GeneDecksing

Phenotypes:
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Gm2a):

behavior/neurological

nervous system

GM2A for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Gm2a^tm1Rlp for GM2A

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GM2A

miRNA Products:		OriGene 3'-UTR Clone: GM2A Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GM2A
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate GM2A (see all 11):
		hsa-miR-22 hsa-miR-137 hsa-miR-429 hsa-miR-766 hsa-miR-646 hsa-miR-374c hsa-miR-382 hsa-miR-200c

		SwitchGear 3'UTR luciferase reporter plasmid: GM2A 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GM2A (see all 7) OriGene shRNA RFP: GM2A OriGene siRNA: GM2A
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GM2A
		Sirion Biotech Custom design and validation of potent shRNA sequences against GM2A

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for GM2A
			Sirion Biotech Customized adenovirus for overexpression of GM2A Sirion Biotech Customized adenovirus for potent knockdown of GM2A

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GM2A (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GM2A (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): GM2A (NM_001167607)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GM2A
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GM2A

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for GM2A
		Search LifeMap BioReagents cell lines for GM2A
		Sirion Biotech Customized stable knockdown cell line services for GM2A Sirion Biotech Customized inducible knockdown cell line services for GM2A Sirion Biotech Customized stable overexpressing cell line services for GM2A Sirion Biotech Customized inducible overexpressing cell line services for GM2A

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GM2A

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Sphingolipid metabolism

Sphingolipid metabolism

1.00

Glycosphingolipid metabolism

0.54

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Lysosome

Lysosome

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

4 Reactome Pathways for GM2A

	Sphingolipid metabolism
	Glycosphingolipid metabolism
	Metabolism
	Metabolism of lipids and lipoproteins

1 Kegg Pathway (Kegg details for GM2A):

Lysosome

GM2A for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GM2A

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/9 Interacting proteins for GM2A (P17900³ ENSP00000349687⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PLD2	O14939³, ENSP00000263088⁴	I2D: score=3 STRING: ENSP00000263088
GPLD1	P80108³, ENSP00000230036⁴	I2D: score=2 STRING: ENSP00000230036
HEXA	P06865³, ENSP00000268097⁴	I2D: score=3 STRING: ENSP00000268097
GLB1	ENSP00000306920⁴	STRING: ENSP00000306920
HEXB	ENSP00000261416⁴	STRING: ENSP00000261416

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006644	phospholipid metabolic process	TAS	--
GO:0006665	sphingolipid metabolic process	TAS	--
GO:0006687	glycosphingolipid metabolic process	TAS	--
GO:0006689	ganglioside catabolic process	IEA	--
GO:0007611	learning or memory	IEA	--

GM2A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GM2A for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GM2A

10/530 HMDB Compounds for GM2A (see all 530) About this table

Compound	CAS #	PubMed Ids
Ganglioside GM2 (d18:0/12:0)	--	12486725
Ganglioside GM2 (d18:0/14:0)	--	12486725
Ganglioside GM2 (d18:0/16:0)	--	12486725
Ganglioside GM2 (d18:0/18:0)	--	12486725
Ganglioside GM2 (d18:0/18:1(11Z))	--	12486725
Ganglioside GM2 (d18:0/18:1(9Z))	--	12486725
Ganglioside GM2 (d18:0/20:0)	--	12486725
Ganglioside GM2 (d18:0/22:0)	--	12486725
Ganglioside GM2 (d18:0/22:1(13Z))	--	12486725
Ganglioside GM2 (d18:0/23:0)	--	12486725

4 DrugBank Compounds for GM2A About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Lpc-Ether	--	--	target	--	17139284 17016423
Platelet Activating Factor	--	74389-68-7	target	--	17139284 17016423
MYRISTIC ACID	--	--	target	--	10592235
Glycerylphosphorylcholine	2-{[(2R)-2,3-dihydroxypropoxy](hydroxy)phosphoryloxy}-N,N,N-trimethylethanaminium (see all 7)	563-24-6	target	--	--

5 Novoseek chemical compound relationships for GM2A gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ganglioside	87.2	25	9770472 (3), 2209618 (2), 19720032 (1), 8631864 (1) (see all 18)
sulfatide	67.9	2	14528917 (1), 11045609 (1)
mannose 6-phosphate	64	2	14657016 (1), 9030589 (1)
glycolipid	62.9	2	12374214 (1), 10571007 (1)
lipid	25	21	19720032 (4), 16478472 (3), 18952610 (2), 12909021 (2) (see all 7)

Search CenterWatch for drugs/clinical trials and news about GM2A / SAP3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GM2A gene (2 alternative transcripts):

NM_000405.4 NM_001167607.1

Unigene Cluster for GM2A:

GM2 ganglioside activator

Hs.483873 [show with all ESTs]

Unigene Representative Sequence: NM_000405

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000523466 ENST00000357164(uc003ltr.4 uc011dcr.2) ENST00000523004(uc003ltt.1)

miRNA Products:		OriGene 3'-UTR Clone: GM2A Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GM2A
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate GM2A (see all 11):
		hsa-miR-22 hsa-miR-137 hsa-miR-429 hsa-miR-766 hsa-miR-646 hsa-miR-374c hsa-miR-382 hsa-miR-200c

		SwitchGear 3'UTR luciferase reporter plasmid: GM2A 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GM2A (see all 7) OriGene shRNA RFP: GM2A OriGene siRNA: GM2A
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GM2A
		Sirion Biotech Custom design and validation of potent shRNA sequences against GM2A

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GM2A (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GM2A (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): GM2A (NM_001167607)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GM2A
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GM2A

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GM2A Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat GM2A
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GM2A
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GM2A

Additional cDNA sequence:

AK127910.1 AK225978.1 AK298867.1 AK312494.1 BC009273.2 L01439.1 M76477.1 X16087.1

X61094.1 X61095.1 X62078.1

14 DOTS entries:

DT.92466419 DT.95298802 DT.95093152 DT.120847910 DT.120847880 DT.418592 DT.418593 DT.92377223

DT.95140373 DT.40123713 DT.453420 DT.91741543 DT.95309250 DT.40254088

24/336 AceView cDNA sequences (see all 336):

CA415489 NM_000405 BM710978 AA918688 AL582016 CB128146 C02055 BI011951

BF197652 BQ675246 BQ004259 AI279007 AA441886 BE540002 BU615756 AU107643

N39456 BU151341 CA307491 CA308553 AU077332 W24663 AU107644 AA917843

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GM2A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

GM2A expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lateral Plate Mesoderm

Pericytes

Ovary

Brain

Mesencephalic Floor Plate

Neural Tube

Mesencephalic Ventricular Zone

Neural Tube

Metencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

See GM2A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GM2A

SOURCE GeneReport for Unigene cluster: Hs.483873

SABiosciences Custom PCR Arrays for GM2A

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GM2A Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat GM2A
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GM2A
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GM2A

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GM2A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for GM2A gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gm2a^{1 , 5}	GM2 ganglioside activator protein^{1, 5}	77.12(n)¹ 72.97(a)¹		11 (32.13 cM)⁵ 14667¹ NM_010299.3¹ NP_034429.1¹ 55098115⁵
chicken (Gallus gallus)	Aves	LOC100857973¹	ganglioside GM2 activator-like	66.87(n) 54.32(a)		100857973 XM_003642059.1 XP_003642107.1
lizard (Anolis carolinensis)	Reptilia	GM2A⁶	--	47(a)	1 ↔ 1	2(137952256-137960498)
zebrafish (Danio rerio)	Actinopterygii	gm2a¹	GM2 ganglioside activator	56.78(n) 54.4(a)		550529 NM_001017831.1 NP_001017831.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GM2A gene

GM2A for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for GM2A
PGOHUM00000245084 PGOHUM00000238224

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104893892^1,2	C,F	pathogenic	154772189(+)	`CTACCA/C/GCATAG`	4	H P R	mis¹ int¹		1		NA	4552
rs104893897^1,2	C	pathogenic	154779730(+)	`CTCTGG/TAGCCT`	4	E *	stg¹		0	--	--	--	--
rs10076604^1,2	C	--	145776257(+)	`gctccC/Tgtgca`	2	--	us2k¹		0	--	--	--	--
rs75521309^1,2	F	--	145776516(+)	`CTTAGG/TTTCCC`	2	--	us2k¹		1		WA	118
rs80292678^1,2		--	145776748(+)	`CAGTCC/TGAACC`	2	--	us2k¹		0	--	--	--	--
rs56818470^1,2	C,F	--	145776935(+)	`GCACTG/AGGTAT`	2	--	us2k¹		3		WA CSA	122
rs113607860^1,2	C	--	145777640(+)	`GTGACA/GGCCCC`	2	--	us2k¹		0	--	--	--	--
rs111913684^1,2	C	--	145778221(+)	`AAAAGC/GTGAGT`	2	--	spd¹		1		CSA	1
rs76463159^1,2		--	145778527(+)	`TTCAGA/TCCTGT`	2	--	int¹		0	--	--	--	--
rs73796647^1,2	C	--	145778615(+)	`TCGAAT/AGCCCT`	2	--	int¹		1		WA	2

HapMap Linkage Disequilibrium report for GM2A (150591711 - 150650001 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for GM2A: --
Human Gene Mutation Database (HGMD): GM2A

Locus Specific Mutation Databases (LSDB): GM2A

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GM2A

DNA2.0 Custom Variant and Variant Library Synthesis for GM2A

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GM2A for disorders           About GeneDecksing

OMIM gene information: 613109
OMIM disorders: 272750
UniProtKB/Swiss-Prot: SAP3_HUMAN, P17900

Defects in GM2A are the cause of GM2-gangliosidosis type AB (GM2GAB) [MIM:272750]; also known as Tay-Sachs

disease AB variant. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation

of GM2 gangliosides in the neuronal cells. GM2GAB is characterized by GM2 gangliosides accumulation in the presence of

both hexosaminidase A and B

14 diseases for GM2A: About MalaCards

tay-sachs disease tay-sachs disease ab variant gangliosidosis gangliosidosis gm2

spinal muscular atrophy sandhoff disease lysosomal storage disease muscular atrophy

protein s deficiency neurodegenerative disease candidiasis sinusitis

cholesterol neuronitis

1 disease from the University of Copenhagen DISEASES database for GM2A:

Gangliosidosis

8 Novoseek disease relationships for GM2A gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gangliosidosis gm2 ab variant	94.4	2	7713516 (1), 11090283 (1)
gm2 gangliosidosis	90.1	5	11339652 (3), 9770472 (1), 17196574 (1)
tay-sachs disease	83.8	4	18952610 (1), 11339652 (1), 17196574 (1), 11090283 (1)
sandhoff disease	78.3	2	11339652 (1), 17196574 (1)
i-cell disease	74.6	2	14657016 (1), 15236333 (1)
protein deficiency	56.4	1	9645092 (1)
neurological disorders	11.4	1	7713516 (1)
neurodegenerative diseases	8.7	1	14528917 (1)

Genatlas disease: GM2A

GM2 gangliosidosis,AB variant

Human Genome Epidemiology (HuGE) Navigator: GM2A (1 document)

Export disorders for GM2A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GM2A gene, integrated from 9 sources (see all 79):
(articles sorted by number of sources associating them with GM2A)

Utopia: connect your pdf to the dynamic
world of online information

Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein. (PubMed id 1915857)^{1, 2, 3} Klima H....Sandhoff K. (1991)
Crystal structure of human GM2-activator protein with a novel beta- cup topology. (PubMed id 11090283)^{1, 2, 9} Wright C.S.... Rastinejad F. (2000)
The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein. (PubMed id 2209618)^{1, 2, 9} Furst W.... Sandhoff K. (1990)
Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. (PubMed id 8900233)^{1, 2, 9} Schepers U....Sandhoff K. (1996)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2. (PubMed id 10364519)^{1, 2} Chen B.... Mahuran D.J. (1999)
Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells. (PubMed id 8244332)^{1, 2} Schroder M....Sandhoff K. (1993)
Evidence for two cDNAs encoding human GM2-activator protein. (PubMed id 1554364)^{1, 2} Nagarajan S.... Lockyer J. (1992)
Identification of a processed pseudogene related to the functional gene encoding the GM2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5. (PubMed id 1427911)^{1, 2} Xie B.... Mahuran D.J. (1992)
A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. (PubMed id 1915858)^{1, 2} Schroeder M.... Sandhoff K. (1991)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2760	HGNC: 4367	AceView: GM2A	Ensembl:ENSG00000196743	euGenes: HUgn2760
ECgene: GM2A	Kegg: 2760	H-InvDB: GM2A

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for GM2A	Pharmacogenomics, SNPs, Pathways
GM2Adb	http://www.hexdb.mcgill.ca/?Topic=GM2Adb
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GM2A

Intellectual Property for GM2A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for GM2A gene:
Search GeneIP for patents involving GM2A

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for GM2A
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GM2A		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GM2A
	OriGene Protein Over-expression Lysate for GM2A		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for GM2A		OriGene 3'-UTR Clone for GM2A
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GM2A		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GM2A
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for GM2A		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for GM2A		OriGene Custom Protein Services for GM2A
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GM2A
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GM2A
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GM2A
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GM2A
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GM2A
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GM2A

	GenScript Custom Purified and Recombinant Proteins Services for GM2A		GenScript cDNA clones with any tag delivered in your preferred vector for GM2A
	GenScript Custom Assay Services for GM2A		GenScript Custom Superior Antibodies Services for GM2A
	GenScript Custom overexpressing Cell Line Services for GM2A		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in GM2A promoter
	Search Chromatin IP Primers for GM2A
	RT² qPCR Primer Assay in human, mouse, rat GM2A
	Search GNC Networks for GM2A
	SABiosciences Custom PCR Arrays for GM2A

Search Tocris compounds for GM2A

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	GM2A antibodies
	GM2A proteins
	GM2A lysates

	Antibodies for GM2A
	See all of Abcam's Antibodies, Kits and Proteins for GM2A
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

GM2A Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for GM2A

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GM2A

	SwitchGear 3'UTR luciferase reporter plasmids for GM2A
	SwitchGear Promoter luciferase reporter plasmids for GM2A

ThermoFisher Antibodies for GM2A

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GM2A

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GM2A

Sirion Biotech Customized:

	stable knockdown cell line services for GM2A
	inducible knockdown cell line services for GM2A
	design and validation of potent shRNA sequences against GM2A
	adenovirus for potent knockdown of GM2A
	adenovirus for overexpression of GM2A
	stable overexpressing cell line services for GM2A
	inducible overexpressing cell line services for GM2A

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes GM2A gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

GM2A Gene

GM2 ganglioside activator

Aliases
for GM2A gene

Summaries
for GM2A gene

Genomic Views
for GM2A gene

Proteins
for GM2A gene

Protein Domains /
Families
for GM2A gene

Function
for GM2A gene

Pathways & Interactions
for GM2A gene

Drugs & Compounds
for GM2A gene

Transcripts
for GM2A gene

Expression
for GM2A gene

Orthologs
for GM2A gene

Paralogs
for GM2A gene

Genomic Variants
for GM2A gene

Disorders / Diseases
for GM2A gene

Publications
for GM2A gene

External Searches for GM2A gene

Genome Databases showing GM2A gene

Other Databases showing GM2A gene

Specialized Databases showing GM2A gene

Intellectual Property
for GM2A gene

Products
for GM2A gene

View Random Gene

Advanced Search

Export list of displayed genes

GM2A Gene

GM2 ganglioside activator

Aliasesfor GM2A gene

Summariesfor GM2A gene

Genomic Viewsfor GM2A gene

Proteinsfor GM2A gene

Protein Domains /Familiesfor GM2A gene

Functionfor GM2A gene

Pathways & Interactionsfor GM2A gene

Drugs & Compoundsfor GM2A gene

Transcriptsfor GM2A gene

Expression for GM2A gene

Orthologsfor GM2A gene

Paralogsfor GM2A gene

Genomic Variantsfor GM2A gene

Disorders / Diseasesfor GM2A gene

Publicationsfor GM2A gene

External Searches for GM2A gene

Genome Databases showing GM2A gene

Other Databases showing GM2A gene

Specialized Databases showing GM2A gene

Intellectual Propertyfor GM2A gene

Productsfor GM2A gene

View Random Gene

Aliases
for GM2A gene

Summaries
for GM2A gene

Genomic Views
for GM2A gene

Proteins
for GM2A gene

Protein Domains /
Families
for GM2A gene

Function
for GM2A gene

Pathways & Interactions
for GM2A gene

Drugs & Compounds
for GM2A gene

Transcripts
for GM2A gene

Expression
for GM2A gene

Orthologs
for GM2A gene

Paralogs
for GM2A gene

Genomic Variants
for GM2A gene

Disorders / Diseases
for GM2A gene

Publications
for GM2A gene

Intellectual Property
for GM2A gene

Products
for GM2A gene