Gm2a ganglioside GM2 activator [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Gm2aprovided by RGD
Official Full Name: ganglioside GM2 activatorprovided by RGD
Primary source: RGD:628651
See related: EnsemblRapid:ENSRNOG00000052219 AllianceGenome:RGD:628651
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables lipid transporter activity and phospholipase activator activity. Contributes to beta-N-acetylgalactosaminidase activity. Involved in ganglioside metabolic process; lipid transport; and positive regulation of hydrolase activity. Located in apical plasma membrane; basolateral plasma membrane; and cytoplasmic side of plasma membrane. Human ortholog(s) of this gene implicated in GM2 gangliosidosis and GM2 gangliosidosis, AB variant. Orthologous to human GM2A (ganglioside GM2 activator). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Adrenal (RPKM 1154.8), Spleen (RPKM 598.3) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 10q22

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	10	NC_086028.1 (39719919..39732452)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	10	NC_051345.1 (39219221..39231756)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	10	NC_005109.4 (40438394..40450927)

Chromosome 10 - NC_086028.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gm2a (e-PCR), detects polymorphism
- UniSTS:508008

RH140262 (e-PCR)
- UniSTS:222340

Gm2a (e-PCR), detects polymorphism
- UniSTS:502661

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
contributes_to beta-N-acetylgalactosaminidase activity	IDA Inferred from Direct Assay more info	PubMed
enables beta-N-acetylhexosaminidase activity	ISO Inferred from Sequence Orthology more info
enables enzyme activator activity	ISO Inferred from Sequence Orthology more info
enables lipid binding	IC Inferred by Curator more info	PubMed
enables lipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables lipid transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipase activator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ganglioside catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ganglioside catabolic process	ISO Inferred from Sequence Orthology more info
involved_in ganglioside metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within learning or memory	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid storage	ISO Inferred from Sequence Orthology more info
involved_in lipid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within maintenance of location in cell	ISO Inferred from Sequence Orthology more info
NOT involved_in membrane fusion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within nervous system process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuromuscular process controlling balance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within oligosaccharide catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of hydrolase activity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ganglioside GM2 activator

Names: GM2 ganglioside activator protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_172335.2 → NP_758838.2 ganglioside GM2 activator precursor

See identical proteins and their annotated locations for NP_758838.2

Status: PROVISIONAL

Source sequence(s)

BC072474

UniProtKB/TrEMBL

Q6IN37, Q8CJH4

Related

ENSRNOP00000071876.3, ENSRNOT00000078910.3

Conserved Domains (1) summary

cl00274
Location:39 → 198

ML; The ML (MD-2-related lipid-recognition) domain is present in MD-1, MD-2, GM2 activator protein, Niemann-Pick type C2 (Npc2) protein, phosphatidylinositol/phosphatidylglycerol transfer protein (PG/PI-TP), mite allergen Der p 2 and several proteins of ...