ZFIN ID: ZDB-GENE-050417-373
Gene Name: GM2 ganglioside activator
Gene Symbol: gm2a    Nomenclature History

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Previous Name: zgc:110188

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 14 Mapping Details/Browsers
Description: Predicted to have lipid transporter activity. Predicted to be involved in ganglioside catabolic process and lipid transport. Predicted to localize to cytoplasmic side of plasma membrane. Human ortholog(s) of this gene implicated in GM2 gangliosidosis and GM2 gangliosidosis, AB variant. Orthologous to human GM2A (GM2 ganglioside activator).
Genome Resources: Alliance (1),  Gene:550529 (1),  Ensembl(GRCz11):ENSDARG00000088439 (2)
GENE EXPRESSION
Directly Submitted Expression Data: 1 figure (1 image) from Thisse et al., 2004 [IMAGE:6901861]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Hatching:Pec-fin (60.0h-72.0h)
 
High Throughput Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa7391 Point Mutation Unknown Missense ENU
PHENOTYPE No data available
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
DISEASE ASSOCIATED WITH gm2a VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process ganglioside catabolic process (more)
Cellular Component cytoplasmic side of plasma membrane (more)
Molecular Function enzyme activator activity (more)
GO Terms (all 5)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS No data available
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM gm2a No data available
MARKER RELATIONSHIPS
gm2a Encodes: [EST] IMAGE:6901861 (1)
[cDNA] MGC:110188 (1), MGC:192352 (1)
gm2a Has Artifact: [EST] fb96e04, fb96e10
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:NM_001017831 (1)
Polypeptide UniProtKB:Q568N7 (1) 200 aa
Sequence Information (all 15)
ORTHOLOGY for gm2a ( Chr: 14 )
CITATIONS (18)