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Aliases for RAB3GAP2 Gene

Aliases for RAB3GAP2 Gene

  • RAB3 GTPase Activating Non-Catalytic Protein Subunit 2 2 3 5
  • 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
  • RGAP-Iso 3 4
  • RAB3GAP150 3
  • KIAA0839 4
  • WARBM2 3
  • SPG69 3
  • P150 3

External Ids for RAB3GAP2 Gene

Previous GeneCards Identifiers for RAB3GAP2 Gene

  • GC01M216712
  • GC01M218388
  • GC01M220322
  • GC01M190996

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 Non-Catalytic Protein Subunit 2) is a Protein Coding gene. Diseases associated with RAB3GAP2 include martsolf syndrome and warburg micro syndrome 2. Among its related pathways are COPI-independent Golgi-to-ER retrograde traffic and Golgi-to-ER retrograde transport. GO annotations related to this gene include protein heterodimerization activity and Rab GTPase binding.

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

Regulatory Elements for RAB3GAP2 Gene

Enhancers for RAB3GAP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RAB3GAP2 on UCSC Golden Path with GeneCards custom track

Promoters for RAB3GAP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAB3GAP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RAB3GAP2 Gene

Chromosome:
1
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

Genes around RAB3GAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB3GAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB3GAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 913 and Lys 1363
  • Modification sites at PhosphoSitePlus

Other Protein References for RAB3GAP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB3GAP2 Gene

Domains & Families for RAB3GAP2 Gene

Protein Domains for RAB3GAP2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9H2M9

UniProtKB/Swiss-Prot:

RBGPR_HUMAN :
  • Belongs to the Rab3-GAP regulatory subunit family.
Family:
  • Belongs to the Rab3-GAP regulatory subunit family.
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:0017137 Rab GTPase binding IPI 24891604
genes like me logo Genes that share ontologies with RAB3GAP2: view
genes like me logo Genes that share phenotypes with RAB3GAP2: view

Human Phenotype Ontology for RAB3GAP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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 5
cytosol 3
nucleus 2
endoplasmic reticulum 1

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 --
genes like me logo Genes that share ontologies with RAB3GAP2: view

Pathways & Interactions for RAB3GAP2 Gene

genes like me logo Genes that share pathways with RAB3GAP2: view

Gene Ontology (GO) - Biological Process for RAB3GAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043085 positive regulation of catalytic activity TAS 9733780
GO:0043087 regulation of GTPase activity IEA,ISS --
GO:0043547 positive regulation of GTPase activity TAS 9733780
genes like me logo Genes that share ontologies with RAB3GAP2: view

No data available for SIGNOR curated interactions for RAB3GAP2 Gene

Drugs & Compounds for RAB3GAP2 Gene

(1) Drugs for RAB3GAP2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
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

Protein differential expression in normal tissues from HIPED for RAB3GAP2 Gene

This gene is overexpressed in Lymph node (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with RAB3GAP2: view

Protein tissue co-expression partners for RAB3GAP2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RAB3GAP2 Gene

Orthologs for RAB3GAP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB3GAP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RAB3GAP2 35
  • 89.77 (n)
  • 92.6 (a)
RAB3GAP2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB3GAP2 35
  • 91.41 (n)
  • 95.33 (a)
RAB3GAP2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab3gap2 35
  • 84.72 (n)
  • 89.24 (a)
Rab3gap2 16
Rab3gap2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAB3GAP2 35
  • 99.71 (n)
  • 99.86 (a)
RAB3GAP2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab3gap2 35
  • 84.52 (n)
  • 89.46 (a)
oppossum
(Monodelphis domestica)
Mammalia RAB3GAP2 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 71 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
chicken
(Gallus gallus)
Aves RAB3GAP2 35
  • 76.53 (n)
  • 80.61 (a)
RAB3GAP2 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB3GAP2 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab3gap2 35
  • 70.82 (n)
  • 74.53 (a)
zebrafish
(Danio rerio)
Actinopterygii rab3gap2 35
  • 62.04 (n)
  • 61.51 (a)
rab3gap2 36
  • 59 (a)
OneToOne
wufb94b08 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7241 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001533 35
  • 41.16 (n)
  • 31.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta rab3-GAP 35
  • 44.64 (n)
  • 32.62 (a)
rab3-GAP 36
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rbg-2 36
  • 20 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G14910 35
  • 45.32 (n)
  • 30.12 (a)
rice
(Oryza sativa)
Liliopsida Os09g0315800 35
  • 42.13 (n)
  • 28.64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToMany
CSA.583 36
  • 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
rs12045447 - 220,171,111(+) AACTG(C/T)TTGGG reference, missense
rs2289189 - 220,157,863(+) TGTCA(C/G)TCATT reference, missense
VAR_029881 Martsolf syndrome (MARTS)
rs9000 -- 220,255,119(+) GCAAT(A/G)CACTG intron-variant
rs893326 -- 220,160,821(+) CCCTA(C/T)TGTCT 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

Variation tolerance for RAB3GAP2 Gene

Residual Variation Intolerance Score: 17.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.24; 85.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB3GAP2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB3GAP2 Gene

Disorders for RAB3GAP2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RAB3GAP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
martsolf syndrome
  • cataract mental retardation hypogonadism
warburg micro syndrome 2
  • micro syndrome 2
autosomal recessive spastic paraplegia type 69
  • spg69
cataract-intellectual disability-hypogonadism syndrome
  • martsolf syndrome
warburg micro syndrome
  • micro syndrome
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB3GAP2
genes like me logo Genes that share disorders with RAB3GAP2: view

No data available for Genatlas for RAB3GAP2 Gene

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 67
  2. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G. … Gleeson J.G. (Science 2014) 2 3
  3. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. (PMID: 15696165) Aligianis I.A. … Maher E.R. (Nat. Genet. 2005) 2 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for RAB3GAP2 Gene

Sources for RAB3GAP2 Gene

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