Gene

gm2a

ID
ZDB-GENE-050417-373
Name
ganglioside GM2 activator
Symbol
gm2a Nomenclature History
Previous Names
  • zgc:110188
Type
protein_coding_gene
Location
Chr: 14 Mapping Details/Browsers
Description
Predicted to have enzyme activator activity. Predicted to be involved in ganglioside catabolic process. Human ortholog(s) of this gene implicated in GM2 gangliosidosis and GM2 gangliosidosis, AB variant. Orthologous to human GM2A (GM2 ganglioside activator).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gm2a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
GM2 gangliosidosis, AB variant Alliance GM2-gangliosidosis, AB variant 272750
Associated With gm2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR003172 MD-2-related lipid-recognition domain
Family IPR028996 Ganglioside GM2 activator
Homologous_superfamily IPR036846 GM2-AP, lipid-recognition domain superfamily
Domain Details Per Protein
Protein Length Ganglioside GM2 activator GM2-AP, lipid-recognition domain superfamily MD-2-related lipid-recognition domain
UniProtKB:A0A8M2BKE8 211
UniProtKB:Q568N7 200
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations