Gm2a
Gene Detail

Symbol Name ID

Gm2a GM2 ganglioside activator protein MGI:95762

Feature Type

protein coding gene

Genetic Map

Chromosome 11

32.13 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)

Sequence Map

Chr11:55098115-55113029 bp, + strand From VEGA annotation of GRCm38   14915 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:349  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Gm2a

Human homologs

Human Homolog		GM2A, GM2 ganglioside activator
NCBI Gene ID		2760
neXtProt AC		NX_P17900
Human Synonyms		GM2-AP, SAP-3
Human Chr (Location)		5q33.1; chr5:150632613-150649955 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human GM2A

Alleles and phenotypes

All alleles(5) : Targeted(4) Gene trapped(1)
 

Homozygotes for a targeted null mutation exhibit abnormal accumulation of glycolipid and ganglioside in various brain regions with impaired balance, coordination, and learning.

 
Human Diseases Modeled Using Mouse Gm2a (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	ganglioside catabolic process, learning or memory, ...
Component	lysosome, mitochondrion
Function	beta-N-acetylhexosaminidase activity, enzyme activator activity, ...

External Resources: FuncBase

Expression

Literature Summary: (8 records)
Data Summary: Results (72)    Tissues (36)    Images (21)
Theiler Stages: 10, 18, 20, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	44
Northern blot	18
RT-PCR	10

cDNA source data(10)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(22) Genomic(7) cDNA(12) Primer pair(3)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000005683 (Evidence)
Ensembl Gene Model	ENSMUSG00000000594 (Evidence)
Entrez Gene	14667 (Evidence)
NIA Mouse Gene Index	U012622, U012623
PDB	2AGC
Consensus CDS Project	CCDS24707.1
International Mouse Knockout Project Status	Gm2a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000005683	VEGA Gene Model | MGI Sequence Detail	14915	C57BL/6J
transcript	OTTMUST00000012649	VEGA | MGI Sequence Detail	4127	Not Applicable
polypeptide	OTTMUSP00000005859	VEGA | MGI Sequence Detail	193	Not Applicable

All sequences(32) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(3) : SNPs(31 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
Protein Ontology	PR:000008064	ganglioside GM2 activator

References

(Earliest) J:14350 Bellachioma G, et al., Cloning and sequence analysis of a cDNA clone coding for the mouse GM2 activator protein. Biochem J. 1993 Aug 15;294(Pt 1):227-30
(Latest) J:190524 Shalom-Barak T, et al., Placental PPARgamma regulates spatiotemporally diverse genes and a unique metabolic network. Dev Biol. 2012 Dec 1;372(1):143-55
All references(45)

Other accession IDs

MGD-MRK-10170, MGI:2143984, MGI:2144514