GM2A - ganglioside GM2 activator Gene

Homo sapiens

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

Gene ID: 2760 | Gene type: protein coding

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

GM2A Protein Structure

E1_DerP2_DerF2

0
100
193 a.a.

Protein Preferred Names

Protein Names

ganglioside GM2 activator

GM2 ganglioside activator

Recombinant GM2A Proteins

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05513	GM2A Human Pre-designed siRNA Set A		/	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