GM2A - ganglioside GM2 activator Gene

Also Known as GM2AP; SAP-3; GM2-AP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2760

About GM2A

Cytogenetic location: 5q33.1 Genomic coordinates (GRCh38): 5:151,253,185-151,270,440 (from NCBI)

This gene has 3 transcripts (splice variants), 205 orthologues and is associated with 3 phenotypes. Ubiquitous expression in skin (RPKM 39.8), placenta (RPKM 38.5) and 24 other tissues.

Summary

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]

GM2A Products (2)

mRNA	Protein	Name
NM_000405.5	NP_000396.2	ganglioside GM2 activator isoform 1 precursor
NM_001167607.3	NP_001161079.1	ganglioside GM2 activator isoform 2 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GM2A Protein Structure

E1_DerP2_DerF2

0
100
193 a.a.

Protein Preferred Names	Protein Names
ganglioside GM2 activator	GM2 ganglioside activator

GM2A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GM2A	P17900	ACTA2	Homo sapiens	P62736	Anti Tag CoIP	33961781
Intra	GM2A	P17900	ACTA2	Homo sapiens	P62736	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GM2A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70954	GM2A Protein, Human (HEK293, His)	AAH09273.1 (S32-I193)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P75160	GM2A Protein, Human (sf9, His)	AAA35907.1 (H24-I193)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Gm2-Gangliosidosis, Ab Variant	Hexosaminidase Activator Deficiency Tay-Sachs Disease, Ab Variant Gm2 Gangliosidosis, Ab Variant Gm2 Activator Deficiency Tay-Sachs Disease, Variant Ab Tay-Sachs Disease Ab Variant Ab Variant Gm2-Gangliosidosis Tay-Sachs Variant Ab Ab Variant Activator Deficiency/Gm2 Gangliosidosis Activator-Deficient Tay-Sachs Disease Gm2 Activator Deficiency Disease Gm2 Gangliosidosis, Type Ab Gm2-Gangliosidosis Ab GM2GAB Gm2-Gangliosidosis Ab Variant Gangliosidosis Gm2 Ab Variant Gm2-Gangliosidosis, Variant Ab
Tay-Sachs Disease	Hexosaminidase A Deficiency TSD Hexa Deficiency Gm2 Gangliosidosis, Type 1 Hexosaminidase Alpha-Subunit Deficiency Gm2-Gangliosidosis, Several Forms Gm2-Gangliosidosis, B, B1, Ab Variant B Variant Gm2 Gangliosidosis Sphingolipidosis, Tay-Sachs Gm2-Gangliosidosis, Type I B Variant Gm2-Gangliosidosis Hex A Pseudodeficiency Hexa Disorders Beta-Hexosaminidase A Deficiency Gm2 Gangliosidosis, Type I Gangliosidosis Gm2 , Type 1 Gm2 Gangliosidosis, B, B1 Variant Gm2-Gangliosidosis 1 GM2G1 Gm2-Gangliosidosis B Variant Tay-Sachs Disease Pseudo-Ab Variant Tay-Sachs Disease Variant B1 Gangliosidoses, Gm2
Gm2 Gangliosidosis	Gangliosidosis Gm2 Gangliosidoses, Gm2
Gangliosidosis	Gangliosidoses
Sandhoff Disease	Total Hexosaminidase Deficiency Hexosaminidases A And B Deficiency Sandhoff Disease, Infantile, Juvenile, And Adult Forms Beta-Hexosaminidase-Beta-Subunit Deficiency Gm2 Gangliosidosis, Type 2 Hexosaminidase A And B Deficiency Disease Sandhoff-Jatzkewitz-Pilz Disease Gm2 Gangliosidosis, Type Ii Sandhoff Disease, Infantile Form Sandhoff Disease, Adult Form Sandhoff Disease, Juvenile Form Gm2-Gangliosidosis, Type Ii Sandhoff Jatzkewitz Disease Type Ii Gm2 Gangliosidosis Gm2 Gangliosidosis, 0 Variant Gm2 Gangliosidosis 0 Variant Hexosaminidases A And B Deficiency, Infantile Form Infantile Gm2 Gangliosidosis 0 Variant Adult Gm2 Gangliosidosis 0 Variant Hexosaminidases A And B Deficiency, Adult Form Hexosaminidases A And B Deficiency, Juvenile Form Juvenile Gm2 Gangliosidosis 0 Variant Gm2-Gangliosidosis 2 GM2G2 Hexosaminidase A And B Deficiency Sd
Mucolipidosis Ii Alpha/Beta	I-Cell Disease Mucolipidosis Type Ii Mucolipidosis Ii Icd Inclusion Cell Disease Inclusion-Cell Disease I Cell Disease Mucolipidosis 2 MLII Ml Ii Ml Ii Alpha/Beta Gnpta Leroy Disease Ml 2 Ml Disorder Type 2 N-Acetylglucosamine 1phosphotransferase Deficiency Mucolipidosis Type Ii Alpha/Beta N-Acetylglucosamine 1-Phosphotransferase Deficiency Deficiency Of N-Acetylglucosamine-1-Phosphotransferase Mucolipidosis, Type Ii, Alpha/Beta Ml2 Type Ii Mucolipidosis
Gm1-Gangliosidosis, Type Ii	Gm1 Gangliosidosis Type 2 GM1G2 Gangliosidosis, Generalized Gm1, Type 2 Juvenile Gm1 Gangliosidosis Gangliosidosis Generalized Gm1 Type 2 Gangliosidosis, Generalized Gm1, Juvenile Type Gangliosidosis, Generalized Gm1, Type Ii Gangliosidosis Generalized Gm1 Juvenile Type Late-Infantile Gm1 Gangliosidosis Gm1-Gangliosidosis 2 Gangliosidosis Generalized Gm1 Late Infantile Type Gm1-Gangliosidosis Generalized Juvenile Type Gangliosidosis, Gm1, Type Ii
Charcot-Marie-Tooth Disease, Axonal, Type 2v	CMT2V Charcot-Marie-Tooth Disease Axonal Type 2v Charcot-Marie-Tooth Neuropathy, Type 2v Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2v Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2v Charcot-Marie-Tooth Neuropathy Type 2v Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Naglu Mutation Hereditary Adult-Onset Painful Axonal Polyneuropathy Charcot-Marie-Tooth Disease 2v
Kanzaki Disease	Alpha-N-Acetylgalactosaminidase Deficiency Type 2 Naga Deficiency Type 2 Schindler Disease, Type Ii Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency Schindler Disease Type 2 Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset Naga Deficiency, Type Ii Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset KANZD Naga Deficiency Type Ii Schindler Disease Type Ii
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Median Rhomboid Glossitis	Persistent Tuberculum Impar Glossitis Rhomboidea Mediana Superficial Midline Glossitis
Sphingolipidosis	Sphingolipidoses
Gm1 Gangliosidosis	Beta-Galactosidase Deficiency Gangliosidosis Gm1 Deficiency Of Beta-Galactosidase Beta Galactosidase 1 Deficiency Beta-Galactosidosis Glb 1 Deficiency Beta-Galactosidase-1 Deficiency Beta-Galactosidase-1 Deficiency Glb1 Deficiency Landing Disease Gangliosidosis, Gm1
Farber Lipogranulomatosis	Farber Disease Acid Ceramidase Deficiency Ceramidase Deficiency Ac Deficiency N-Laurylsphingosine Deacylase Deficiency Farber'S Disease FRBRL Farber'S Lipogranulomatosis Acylsphingosine Deacylase Deficiency Farber-Uzman Syndrome Acy
Mongolian Spot	Mongolian Macula
Mucopolysaccharidosis, Type Ix	Mucopolysaccharidosis Type Ix Hyaluronidase Deficiency MPS9 Mps Ix Mucopolysaccharidosis Ix Mpsix Mucopolysaccharidosis Type 9 Mucopolysaccharidosis 9
Schindler Disease	Alpha-N-Acetylgalactosaminidase Deficiency Naga Deficiency Alpha-Galactosidase B Deficiency Alpha-Galnac Deficiency, Schindler Type Alpha-Naga Deficiency Angiokeratoma Corporis Diffusum-Glycopeptiduria Galb Deficiency Kanzaki Disease Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum Neuroaxonal Dystrophy, Schindler Type Neuronal Axonal Dystrophy, Schindler Type Schindler Disease, Type I Schindler Disease, Type Ii
Niemann-Pick Disease, Type C2	NPC2 Niemann-Pick Disease Type C2 Niemann-Pick C2 Disease Niemann-Pick Disease C2
Hairy Tongue	Overgrowth Of Filiform Papillae Tongue, Hairy
Niemann-Pick Disease, Type A	Niemann-Pick Disease Type A Sphingomyelin Lipidosis Sphingomyelinase Deficiency Niemann-Pick Disease, Intermediate, Protracted Neurovisceral Acid Sphingomyelinase Deficiency, Neurovisceral Type Asmd, Neurovisceral Type Infantile Neurovisceral Acid Sphingomyelinase Deficiency Infantile Neurovisceral Asmd Npd-A Niemann-Pick Disease A NPDA Classical Niemann-Pick Disease Niemann-Pick Disease Acute Neuronopathic Form Niemann-Pick Disease Acute Neurovisceral Form Niemann-Pick Disease Classical Infantile Form Niemann-Pick Disease Intermediate Protracted Neurovisceral Niemann-Pick Disease Neuronopathic Type Niemann-Pick Disease Type I Npa Niemann-Pick Diseases
Metachromatic Leukodystrophy	Arylsulfatase A Deficiency MLD Arsa Deficiency Sulfatide Lipidosis Metachromatic Leukoencephalopathy Cerebral Sclerosis, Diffuse, Metachromatic Form Cerebroside Sulfatase Deficiency Leukodystrophy, Metachromatic Pseudoarylsulfatase A Deficiency Leukodystrophy Metachromatic Sulfatidosis Metachromatic Leukodystrophy, Late Infantile Metachromatic Leukodystrophy Variant Deficiency Of Cerebroside-Sulfatase Scholz Cerebral Sclerosis Sulfatide Lipoidosis Cerebral Sclerosis Diffuse Metachromatic Form Arylsulfatase A Deficiency Disease Cerebroside Sulphatase Deficiency Disease Greenfield Disease Metachromatic Leukodystrophy, Adult Metachromatic Leukodystrophy, Juvenile Leukodystrophy Metachromatic Adult Leukodystrophy Metachromatic Juvenile Leukodystrophy Metachromatic Late Infantile Metachromatic Leukodystrophy, Adult Type Metachromatic Leukodystrophy, Juvenile Type Metachromatic Leukodystrophy, Infant Greenfield'S Disease
Niemann-Pick Disease	Sphingomyelin/Cholesterol Lipidosis Niemann-Pick Diseases Lipoid Histiocytosis Sphingomyelin Lipidosis Sphingomyelinase Deficiency Disease Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis Npd Sphingomyelinase Deficiency Niemann-Pick Disease, Type A
Mucolipidosis
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS29483	GM2A Cattle Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS05513	GM2A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18134	Gm2a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24609	Gm2a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GM2A	VGNC	VGNC:73078
Bos taurus	GM2A	VGNC	VGNC:29431
Mus musculus	GM2A	MGD	MGI:95762
Canis familiaris	GM2A	VGNC	VGNC:41285
Felis catus	GM2A	VGNC	VGNC:62603
Rattus norvegicus	GM2A	RGD	RGD:628651
Others	GM2A	NCBI