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    Rab3gap2 RAB3 GTPase activating protein subunit 2 [ Mus musculus (house mouse) ]

    Gene ID: 98732, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Rab3gap2provided by MGI
    Official Full Name
    RAB3 GTPase activating protein subunit 2provided by MGI
    Primary source
    MGI:MGI:1916043
    See related
    Ensembl:ENSMUSG00000039318 AllianceGenome:MGI:1916043
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA0839; 5830469C09; RAB3-GAP150; 1110059F07Rik; 2010002H18Rik
    Summary
    Predicted to enable small GTPase binding activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including establishment of protein localization to endoplasmic reticulum membrane; positive regulation of organelle organization; and positive regulation of protein lipidation. Predicted to be located in cytosol. Predicted to be part of protein-containing complex. Predicted to be active in autophagosome and presynaptic membrane. Is expressed in alimentary system; genitourinary system; skin; and vascular system. Human ortholog(s) of this gene implicated in Martsolf syndrome and Warburg micro syndrome 2. Orthologous to human RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in frontal lobe adult (RPKM 9.3), cortex adult (RPKM 8.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rab3gap2 in Genome Data Viewer
    Location:
    1 H5; 1 89.45 cM
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (184936287..185018953)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (185204088..185286756)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_03322 Neighboring gene predicted gene, 37662 Neighboring gene predicted gene, 34797 Neighboring gene STARR-seq mESC enhancer starr_03323 Neighboring gene STARR-positive B cell enhancer ABC_E10074 Neighboring gene STARR-positive B cell enhancer ABC_E3348 Neighboring gene predicted gene, 53487 Neighboring gene small nucleolar RNA, H/ACA box 36B Neighboring gene predicted gene, 34882 Neighboring gene microRNA 664 Neighboring gene RIKEN cDNA 2010103J01 gene Neighboring gene isoleucine-tRNA synthetase 2, mitochondrial Neighboring gene microRNA 194-1 Neighboring gene microRNA 215

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Protein interactome mining defines melatonin MT1 receptors as integral component of presynaptic protein complexes of neurons. Benleulmi-Chaachoua A, et al. J Pineal Res, 2016 Jan. PMID 26514267
    2. Qualitative and quantitative analyses of protein phosphorylation in naive and stimulated mouse synaptosomal preparations. Munton RP, et al. Mol Cell Proteomics, 2007 Feb. PMID 17114649
    3. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Feb 28. PMID 12693553
    4. Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Mootha VK, et al. Cell, 2003 Nov 26. PMID 14651853
    5. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Murtaza N, et al. Cell Rep, 2022 Nov 22. PMID 36417873

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    Pathways from PubChem

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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

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to enzyme regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables enzyme regulator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables enzyme regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    contributes_to guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in establishment of protein localization to endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of protein localization to endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in macroautophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of autophagosome assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of endoplasmic reticulum tubular network organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of protein lipidation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in synaptic signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in autophagosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in presynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    rab3 GTPase-activating protein non-catalytic subunit
    Names
    Rab3 GTPase-activating protein 150 kDa subunit
    Rab3-GAP regulatory subunit
    rab3-GAP p150

    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)

    1. NM_001163754.2 → NP_001157226.1  rab3 GTPase-activating protein non-catalytic subunit

      Status: VALIDATED

      Source sequence(s)
      AC129195, AC131084, AC158963
      Consensus CDS
      CCDS48478.1
      UniProtKB/Swiss-Prot
      Q6PEU0, Q80TQ6, Q8BMG7, Q8BX72
      UniProtKB/TrEMBL
      E9QKE4
      Related
      ENSMUSP00000066325.7, ENSMUST00000069652.8
      Conserved Domains (2) summary
      pfam14655
      Location:73 → 497
      RAB3GAP2_N; Rab3 GTPase-activating protein regulatory subunit N-terminus
      pfam14656
      Location:779 → 1365
      RAB3GAP2_C; Rab3 GTPase-activating protein regulatory subunit C-terminus

    RNA

    1. NR_175935.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC129195, AC131084, AC158963

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      184936287..185018953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497216.5 → XP_006497279.1  rab3 GTPase-activating protein non-catalytic subunit isoform X1

      UniProtKB/Swiss-Prot
      Q6PEU0, Q80TQ6, Q8BMG7, Q8BX72
      UniProtKB/TrEMBL
      A0A0A6YWM5
      Related
      ENSMUSP00000141608.2, ENSMUST00000194740.6
      Conserved Domains (2) summary
      pfam14655
      Location:73 → 497
      RAB3GAP2_N; Rab3 GTPase-activating protein regulatory subunit N-terminus
      pfam14656
      Location:779 → 1345
      RAB3GAP2_C; Rab3 GTPase-activating protein regulatory subunit C-terminus

    RNA

    1. XR_004935356.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172649.1: Suppressed sequence

      Description
      NM_172649.1: This RefSeq was suppressed temporarily based on the calculation that the encoded protein was shorter than proteins from the putative ortholog from human: RAB3GAP2 (GeneID:25782).
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BMG7.2 GenPept UniProtKB/Swiss-Prot:Q8BMG7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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