GM2A

GENERAL INFORMATION

? »

Gene name

GM2A

Gene description

GM2 ganglioside activator

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

3
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Granular cytoplasmic expression in most tissues.

ANTIBODY RELIABILITY

? »

Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA008063
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

Gene name

GM2A (HGNC Symbol)

Synonyms

SAP-3

Description

GM2 ganglioside activator (HGNC Symbol)

Entrez gene 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]

Chromosome

5

Cytoband

q33.1

Chromosome location (bp)

151212150 - 151270440

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000196743 (version 78.38)

Entrez gene

2760

UniProt

P17900 (UniProt - Evidence at protein level)

neXtProt

NX_P17900

Antibodypedia

GM2A antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000357164
 
ENST00000523004
 
ENST00000523466
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GM2A-001 ENSP00000349687
ENST00000357164
P17900
Show all »
Show » Show » 193 20.8 Yes 0
GM2A-002 ENSP00000430541
ENST00000523004
Show » 104 11.2 No 0
GM2A-004 ENSP00000429100
ENST00000523466
E5RJD0
Show all »
Show » Show » 146 16.1 No 0