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    RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 [ Homo sapiens (human) ]

    Gene ID: 25782, updated on 7-Sep-2023

    Summary

    Official Symbol
    RAB3GAP2provided by HGNC
    Official Full Name
    RAB3 GTPase activating non-catalytic protein subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:17168
    See related
    Ensembl:ENSG00000118873 MIM:609275; AllianceGenome:HGNC:17168
    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
    p150; SPG69; MARTS1; WARBM2; RAB3GAP150; RAB3-GAP150
    Summary
    The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.2), brain (RPKM 7.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RAB3GAP2 in Genome Data Viewer
    Location:
    1q41
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (220148293..220272453, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (219387567..219511733, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (220321635..220445795, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene isoleucyl-tRNA synthetase 2, mitochondrial Neighboring gene small nucleolar RNA U13 Neighboring gene ribosomal protein S15a pseudogene 12 Neighboring gene small nucleolar RNA, H/ACA box 36B Neighboring gene microRNA 664a Neighboring gene sorting nexin 2 pseudogene 1 Neighboring gene mortality factor 4 like 1 pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:220440608-220441807 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:220443889-220444390 Neighboring gene aurora kinase A pseudogene 1 Neighboring gene X-ray repair cross complementing 6 pseudogene 3 Neighboring gene ribosomal protein lateral stalk subunit P0 pseudogene 5

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14579, KIAA0839, DKFZp434D245

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables enzyme regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    contributes_to guanyl-nucleotide exchange factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    rab3 GTPase-activating protein non-catalytic subunit
    Names
    RAB3 GTPase activating protein subunit 2 (non-catalytic)
    RGAP-iso
    rab3 GTPase-activating protein 150 kDa subunit
    rab3-GAP p150
    rab3-GAP regulatory subunit

    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_015837.2 RefSeqGene

      Range
      5049..129209
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012414.4NP_036546.2  rab3 GTPase-activating protein non-catalytic subunit

      See identical proteins and their annotated locations for NP_036546.2

      Status: REVIEWED

      Source sequence(s)
      AB020646, AC103590, AL117631, BC131573, BX483077, DA379077, N93244
      Consensus CDS
      CCDS31028.1
      UniProtKB/Swiss-Prot
      A6H8V0, O75872, Q9H2M9, Q9HAB0, Q9UFJ7, Q9UQ15
      UniProtKB/TrEMBL
      A0A8I5KYQ0
      Related
      ENSP00000351832.2, ENST00000358951.7
      Conserved Domains (2) summary
      pfam14655
      Location:74498
      RAB3GAP2_N; Rab3 GTPase-activating protein regulatory subunit N-terminus
      pfam14656
      Location:7801369
      RAB3GAP2_C; Rab3 GTPase-activating protein regulatory subunit C-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      220148293..220272453 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      219387567..219511733 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)