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

Gene ID: 25782, updated on 1-Aug-2020

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
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; 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

Genomic context

See RAB3GAP2 in Genome Data Viewer
Location:
1q41
Exon count:
35
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (220148293..220272453, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (220321610..220445843, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene isoleucyl-tRNA synthetase 2, mitochondrial Neighboring gene microRNA 194-1 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 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

Homology

Clone Names

  • FLJ14579, KIAA0839, DKFZp434D245

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
Rab GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to Rab guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enzyme activator activity TAS
Traceable Author Statement
more info
PubMed 
enzyme regulator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
establishment of protein localization to endoplasmic reticulum membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport TAS
Traceable Author Statement
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endoplasmic reticulum tubular network organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein lipidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
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)

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
    Q9H2M9
    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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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