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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; 2 western clawed frog; 1 zebrafish

HCOP human homology predictions: GM2A
Gene Tree: Gm2a

Human
homologs
GM2A, GM2 ganglioside activator
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 2760
neXtProt AC: NX_P17900

Human Synonyms: GM2-AP, SAP-3

Human Chr (Location): 5q33.1; chr5:151253052-151270394 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human GM2A

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(1) Targeted(5)
Genomic Mutations involving Gm2a (1)
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 in Mice Using Gm2a (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Gm2a interacts with 280 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
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 (76)    Images (23)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 82
Northern blot 18
RT-PCR 10
cDNA source data(10)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase gm2a ; ZFIN gm2a    NEW 
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 Phenotyping Consortium Status Gm2a
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(44)
Disease annotation references (1)
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
06/30/2015
MGI 5.22
The Jackson Laboratory