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Aliases for RAB3GAP2 Gene

Aliases for RAB3GAP2 Gene

  • RAB3 GTPase Activating Protein Subunit 2 (Non-Catalytic) 2 3
  • Rab3 GTPase-Activating Protein 150 KDa Subunit 3 4
  • Rab3-GAP Regulatory Subunit 3 4
  • Rab3-GAP P150 3 4
  • RAB3-GAP150 3 4
  • RAB3GAP150 3 6
  • RGAP-Iso 3 4
  • KIAA0839 4 6
  • WARBM2 3 6
  • P150 3 6
  • Rab3 GTPase-Activating Protein Non-Catalytic Subunit 3
  • SPG69 3

External Ids for RAB3GAP2 Gene

Summaries for RAB3GAP2 Gene

Entrez Gene Summary for RAB3GAP2 Gene

  • 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]

GeneCards Summary for RAB3GAP2 Gene

RAB3GAP2 (RAB3 GTPase Activating Protein Subunit 2 (Non-Catalytic)) is a Protein Coding gene. Diseases associated with RAB3GAP2 include warburg micro syndrome 2 and martsolf syndrome. Among its related pathways are Neurotransmitter Release Cycle. GO annotations related to this gene include protein heterodimerization activity and enzyme activator activity.

UniProtKB/Swiss-Prot for RAB3GAP2 Gene

  • Regulatory subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab3 GTPase-activating complex specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.

Gene Wiki entry for RAB3GAP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB3GAP2 Gene

Genomics for RAB3GAP2 Gene

Genomic Location for RAB3GAP2 Gene

Start:
220,148,268 bp from pter
End:
220,272,501 bp from pter
Size:
124,234 bases
Orientation:
Minus strand

Genomic View for RAB3GAP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAB3GAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB3GAP2 Gene

Regulatory Elements for RAB3GAP2 Gene

Proteins for RAB3GAP2 Gene

  • Protein details for RAB3GAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2M9-RBGPR_HUMAN
    Recommended name:
    Rab3 GTPase-activating protein non-catalytic subunit
    Protein Accession:
    Q9H2M9
    Secondary Accessions:
    • A6H8V0
    • O75872
    • Q9HAB0
    • Q9UFJ7
    • Q9UQ15

    Protein attributes for RAB3GAP2 Gene

    Size:
    1393 amino acids
    Molecular mass:
    155985 Da
    Quaternary structure:
    • The Rab3 GTPase-activating complex is a heterodimer composed of RAB3GAP and RAB3-GAP150. The Rab3 GTPase-activating complex interacts with DMXL2 (By similarity).

    Alternative splice isoforms for RAB3GAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB3GAP2 Gene

Proteomics data for RAB3GAP2 Gene at MOPED

Post-translational modifications for RAB3GAP2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys913 and Lys1363

Other Protein References for RAB3GAP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB3GAP2 Gene

Domains for RAB3GAP2 Gene

Protein Domains for RAB3GAP2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

RBGPR_HUMAN
Family:
  • Belongs to the Rab3-GAP regulatory subunit family.:
    • Q9H2M9
genes like me logo Genes that share domains with RAB3GAP2: view

No data available for Gene Families for RAB3GAP2 Gene

Function for RAB3GAP2 Gene

Molecular function for RAB3GAP2 Gene

UniProtKB/Swiss-Prot Function: Regulatory subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab3 GTPase-activating complex specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.

Gene Ontology (GO) - Molecular Function for RAB3GAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding --
GO:0008047 enzyme activator activity TAS 9733780
GO:0017112 contributes_to Rab guanyl-nucleotide exchange factor activity IMP 24891604
GO:0017137 Rab GTPase binding IPI 24891604
genes like me logo Genes that share ontologies with RAB3GAP2: view

miRNA for RAB3GAP2 Gene

miRTarBase miRNAs that target RAB3GAP2

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for RAB3GAP2 Gene

Localization for RAB3GAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB3GAP2 Gene

Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB3GAP2 Gene COMPARTMENTS Subcellular localization image for RAB3GAP2 gene
Compartment Confidence
plasma membrane 4
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for RAB3GAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
GO:0043234 protein complex IDA 24891604
genes like me logo Genes that share ontologies with RAB3GAP2: view

Pathways for RAB3GAP2 Gene

SuperPathways for RAB3GAP2 Gene

Superpath Contained pathways
1 Neurotransmitter Release Cycle
genes like me logo Genes that share pathways with RAB3GAP2: view

Pathways by source for RAB3GAP2 Gene

1 BioSystems pathway for RAB3GAP2 Gene

Gene Ontology (GO) - Biological Process for RAB3GAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport TAS 9733780
GO:0043085 positive regulation of catalytic activity TAS 9733780
GO:0043087 regulation of GTPase activity ISS --
GO:0043547 positive regulation of GTPase activity TAS 9733780
GO:0097051 establishment of protein localization to endoplasmic reticulum membrane IMP 24891604
genes like me logo Genes that share ontologies with RAB3GAP2: view

Compounds for RAB3GAP2 Gene

(1) HMDB Compounds for RAB3GAP2 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with RAB3GAP2: view

Transcripts for RAB3GAP2 Gene

Unigene Clusters for RAB3GAP2 Gene

RAB3 GTPase activating protein subunit 2 (non-catalytic):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAB3GAP2 Gene

No ASD Table

Relevant External Links for RAB3GAP2 Gene

GeneLoc Exon Structure for
RAB3GAP2
ECgene alternative splicing isoforms for
RAB3GAP2

Expression for RAB3GAP2 Gene

mRNA expression in normal human tissues for RAB3GAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAB3GAP2 Gene

SOURCE GeneReport for Unigene cluster for RAB3GAP2 Gene Hs.654849

mRNA Expression by UniProt/SwissProt for RAB3GAP2 Gene

Q9H2M9-RBGPR_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with RAB3GAP2: view

Orthologs for RAB3GAP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB3GAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB3GAP2 36
  • 99.71 (n)
  • 99.86 (a)
RAB3GAP2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB3GAP2 36
  • 89.77 (n)
  • 92.6 (a)
RAB3GAP2 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB3GAP2 36
  • 91.41 (n)
  • 95.33 (a)
RAB3GAP2 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab3gap2 36
  • 84.72 (n)
  • 89.24 (a)
Rab3gap2 16
Rab3gap2 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB3GAP2 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 71 (a)
OneToMany
-- 37
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rab3gap2 36
  • 84.52 (n)
  • 89.46 (a)
chicken
(Gallus gallus)
Aves RAB3GAP2 36
  • 76.53 (n)
  • 80.61 (a)
RAB3GAP2 37
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB3GAP2 37
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab3gap2 36
  • 70.82 (n)
  • 74.53 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7241 36
zebrafish
(Danio rerio)
Actinopterygii rab3gap2 36
  • 62.04 (n)
  • 61.51 (a)
rab3gap2 37
  • 59 (a)
OneToOne
wufb94b08 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001533 36
  • 41.16 (n)
  • 31.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta rab3-GAP 36
  • 44.64 (n)
  • 32.62 (a)
rab3-GAP 37
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rbg-2 37
  • 20 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G14910 36
  • 45.32 (n)
  • 30.12 (a)
rice
(Oryza sativa)
Liliopsida Os09g0315800 36
  • 42.13 (n)
  • 28.64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 57 (a)
OneToMany
CSA.583 37
  • 39 (a)
OneToMany
Species with no ortholog for RAB3GAP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAB3GAP2 Gene

ENSEMBL:
Gene Tree for RAB3GAP2 (if available)
TreeFam:
Gene Tree for RAB3GAP2 (if available)

Paralogs for RAB3GAP2 Gene

No data available for Paralogs for RAB3GAP2 Gene

Variants for RAB3GAP2 Gene

Sequence variations from dbSNP and Humsavar for RAB3GAP2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs9000 -- 220,255,119(+) GCAAT(A/G)CACTG intron-variant
rs866978 -- 220,247,964(+) CTTGA(G/T)AAAGA intron-variant
rs874331 -- 220,160,615(+) TCTAA(C/T)ATAGC intron-variant
rs893326 -- 220,160,821(+) CCCTA(C/T)TGTCT intron-variant
rs1033107 -- 220,264,029(+) cccac(C/T)gacat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAB3GAP2 Gene

Variant ID Type Subtype PubMed ID
esv6960 CNV Gain 19470904
nsv4643 CNV Loss 18451855
esv2673210 CNV Deletion 23128226
esv2723173 CNV Deletion 23290073
nsv826675 CNV Loss 20364138
nsv826686 CNV Loss 20364138

Relevant External Links for RAB3GAP2 Gene

HapMap Linkage Disequilibrium report
RAB3GAP2
Human Gene Mutation Database (HGMD)
RAB3GAP2

Disorders for RAB3GAP2 Gene

(2) OMIM Diseases for RAB3GAP2 Gene (609275)

UniProtKB/Swiss-Prot

RBGPR_HUMAN
  • Martsolf syndrome (MARTS) [MIM:212720]: Characterized by congenital cataracts, mental retardation, and hypogonadism. Inheritance is autosomal recessive. {ECO:0000269 PubMed:16532399}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Warburg micro syndrome 2 (WARBM2) [MIM:614225]: A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. {ECO:0000269 PubMed:20967465}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RAB3GAP2

Genetic Association Database (GAD)
RAB3GAP2
genes like me logo Genes that share disorders with RAB3GAP2: view

Publications for RAB3GAP2 Gene

  1. Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. (PMID: 16532399) Aligianis I.A. … Maher E.R. (Am. J. Hum. Genet. 2006) 2 3 4
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  3. Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein. (PMID: 9733780) Nagano F. … Takai Y. (J. Biol. Chem. 1998) 3 4
  4. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 3 4
  5. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4

Products for RAB3GAP2 Gene

Sources for RAB3GAP2 Gene

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