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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; chr5:151253052-151270394 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human GM2A
Alleles
and
phenotypes
All alleles(5) : Gene trapped(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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: (9 records)
Data Summary: Results (110)    Tissues (73)    Images (23)
Theiler Stages: 10, 18, 20, 22, 23, 24, 25, 26, 28
Assay TypeResults
RNA in situ 82
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 ModelOTTMUSG00000005683 (Evidence)
Ensembl Gene ModelENSMUSG00000000594 (Evidence)
Entrez Gene14667 (Evidence)
NIA Mouse Gene IndexU012622, U012623
PDB2AGC
Consensus CDS ProjectCCDS24707.1
International Mouse Knockout Project StatusGm2a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005683 VEGA Gene Model | MGI Sequence Detail 14915 C57BL/6J ±  kb
transcript OTTMUST00000012649 VEGA | MGI Sequence Detail 4127 Not Applicable 
polypeptide OTTMUSP00000005859 VEGA | MGI Sequence Detail 193 Not Applicable 

For the selected sequences
All sequences(32) RefSeq(2) UniProt(2)
Polymorphisms RFLP(3) : SNPs within 2kb(41 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003172 MD-2-related lipid-recognition (ML) domain
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(46)
Other
accession IDs
MGD-MRK-10170, MGI:2143984, MGI:2144514

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory