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    GM2A ganglioside GM2 activator [ Homo sapiens (human) ]

    Gene ID: 2760, updated on 5-Mar-2024

    Summary

    Official Symbol
    GM2Aprovided by HGNC
    Official Full Name
    ganglioside GM2 activatorprovided by HGNC
    Primary source
    HGNC:HGNC:4367
    See related
    Ensembl:ENSG00000196743 MIM:613109; AllianceGenome:HGNC:4367
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GM2AP; SAP-3; GM2-AP
    Summary
    This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
    Expression
    Ubiquitous expression in skin (RPKM 39.8), placenta (RPKM 38.5) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    5q33.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (151253185..151270440)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (151792130..151809386)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150632746..150650001)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 69 Neighboring gene uncharacterized LOC105378230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16521 Neighboring gene Sharpr-MPRA regulatory region 974 Neighboring gene Sharpr-MPRA regulatory region 9347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16522 Neighboring gene uncharacterized LOC124901115 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23455 Neighboring gene solute carrier family 36 member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23456 Neighboring gene ATPase H+ transporting V1 subunit G1 pseudogene 5 Neighboring gene solute carrier family 36 member 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of GM2 ganglioside activator (GM2A) by siRNA enhances HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-N-acetylgalactosaminidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables lipid transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phospholipase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables sphingolipid activator protein activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in ganglioside catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycosphingolipid catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in learning or memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid storage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in maintenance of location in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oligosaccharide catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasmic side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ganglioside GM2 activator
    Names
    GM2 ganglioside activator
    GM2-activator protein
    cerebroside sulfate activator protein
    shingolipid activator protein 3
    sphingolipid activator protein 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_009059.1 RefSeqGene

      Range
      5134..22389
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000405.5NP_000396.2  ganglioside GM2 activator isoform 1 precursor

      See identical proteins and their annotated locations for NP_000396.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC008385, BM834780, X61095
      Consensus CDS
      CCDS4313.1
      UniProtKB/Swiss-Prot
      B2R699, D3DQH6, P17900, Q14426, Q14428, Q6LBL5
      Related
      ENSP00000349687.3, ENST00000357164.4
      Conserved Domains (1) summary
      cd00258
      Location:32193
      GM2-AP; GM2 activator protein (GM2-AP) is a non-enzymatic lysosomal protein that acts as cofactor in the sequential degradation of gangliosides. GM2A is an essential cofactor for beta-hexosaminidase A (Hex A) in the enzymatic hydrolysis of GM2 ganglioside to GM3. ...
    2. NM_001167607.3NP_001161079.1  ganglioside GM2 activator isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC008385
      UniProtKB/TrEMBL
      B4DQM5
      Conserved Domains (1) summary
      cl00274
      Location:32140
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      151253185..151270440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      151792130..151809386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)