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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
  • Rab3 GTPase-Activating Protein Non-Catalytic Subunit 3
  • 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 Golgi-to-ER retrograde transport and Effects of Botulinum toxin. 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

Additional gene information for RAB3GAP2 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H220336 1.2 FANTOM5 ENCODE 24.4 -65.5 -65482 3 PKNOX1 FOXA2 FEZF1 RAD21 ETS1 ZSCAN5C FOS RCOR1 ELF1 TSHZ1 RAB3GAP2 C1orf115 RPLP0P5 ENSG00000226927
GH01H220299 1.3 Ensembl ENCODE 21.8 -28.2 -28201 1 ATF1 ARNT FEZF1 ZNF2 TCF12 ZNF766 ZNF302 GATA2 ELK1 ZNF548 RAB3GAP2 RPS15AP12 SNX2P1 C1orf115 GC01M220298 XRCC6P3
GH01H220270 1.1 ENCODE 17.3 +0.3 309 2 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 ZNF766 RPS15AP12 SNX2P1 RAB3GAP2 ZC3H11B BPNT1 AURKAPS1
GH01H220219 1.2 FANTOM5 ENCODE 13.5 +51.5 51477 3 PKNOX1 TBL1XR1 SIN3A ATF7 ETV6 RUNX3 CREM IKZF2 SMARCA5 SMAD5 RAB3GAP2 BPNT1 EPRS ENSG00000270708 GC01P220248
GH01H220527 1 ENCODE 14.1 -256.1 -256143 3 ARNT SIN3A FEZF1 GLI4 ZNF2 GLIS2 KLF7 SP3 REST TSHZ1 RAB3GAP2 RPS15AP12 C1orf115 MARK1 GC01P220568
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000020378 301 2000 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1

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). Interacts with LMAN1 (PubMed:22337587).

    Alternative splice isoforms for RAB3GAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB3GAP2 Gene

Post-translational modifications for RAB3GAP2 Gene

  • Ubiquitination at Lys913 and isoforms=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

Gene Families for RAB3GAP2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RAB3GAP2 Gene

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

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.

Phenotypes From GWAS Catalog for RAB3GAP2 Gene

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 IPI 22337587
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
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RAB3GAP2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB3GAP2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytosol 5
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB3GAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane IDA --
GO:0043234 protein complex IDA 24891604
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:0006886 intracellular protein transport TAS 9733780
GO:0043085 positive regulation of catalytic activity IEA --
GO:0043087 regulation of GTPase activity ISS,IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0061024 membrane organization TAS --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RAB3GAP2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RAB3GAP2 Gene



Protein tissue co-expression partners for RAB3GAP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAB3GAP2 Gene:

RAB3GAP2

SOURCE GeneReport for Unigene cluster for RAB3GAP2 Gene:

Hs.654849

mRNA Expression by UniProt/SwissProt for RAB3GAP2 Gene:

Q9H2M9-RBGPR_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for RAB3GAP2 Gene

  • Nervous system(4.8)
  • Blood(4.3)
  • Lymph node(4.2)
  • Spleen(4.2)
  • Liver(2.4)
  • Lung(2.1)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB3GAP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • scalp
  • skull
  • tongue
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with RAB3GAP2: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia RAB3GAP2 33 34
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia RAB3GAP2 33 34
  • 91.41 (n)
cow
(Bos Taurus)
Mammalia RAB3GAP2 33 34
  • 89.77 (n)
oppossum
(Monodelphis domestica)
Mammalia RAB3GAP2 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rab3gap2 33 16 34
  • 84.72 (n)
rat
(Rattus norvegicus)
Mammalia Rab3gap2 33
  • 84.52 (n)
chicken
(Gallus gallus)
Aves RAB3GAP2 33 34
  • 76.53 (n)
lizard
(Anolis carolinensis)
Reptilia RAB3GAP2 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab3gap2 33
  • 70.82 (n)
zebrafish
(Danio rerio)
Actinopterygii rab3gap2 33 34
  • 62.04 (n)
wufb94b08 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7241 33
fruit fly
(Drosophila melanogaster)
Insecta rab3-GAP 33 34
  • 44.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001533 33
  • 41.16 (n)
worm
(Caenorhabditis elegans)
Secernentea rbg-2 34
  • 20 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G14910 33
  • 45.32 (n)
rice
(Oryza sativa)
Liliopsida Os09g0315800 33
  • 42.13 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
OneToMany
CSA.583 34
  • 39 (a)
OneToMany
Species where no ortholog for RAB3GAP2 was found in the sources mined by GeneCards:
  • 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
rs121434310 Pathogenic, Martsolf syndrome (MARTS) [MIM:212720] 220,164,733(-) AAAAT(G/T)GTAAG reference, missense
rs587777167 Pathogenic 220,191,279(+) GTCGC(A/G)GTACC reference, missense
rs587777168 Pathogenic 220,191,121(+) GTGCT(C/T)CACAC reference, stop-gained
rs587777169 Pathogenic 220,153,976(+) TTGTC(A/G)TACAG reference, stop-gained
rs587777170 Pathogenic 220,167,295(+) TACCT(A/C)TGGAT reference, stop-gained

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

Variant ID Type Subtype PubMed ID
esv2673210 CNV deletion 23128226
esv2723173 CNV deletion 23290073
esv3588897 CNV loss 21293372
esv6960 CNV gain 19470904
nsv1144434 CNV deletion 24896259
nsv4643 CNV deletion 18451855
nsv826675 CNV loss 20364138
nsv826686 CNV loss 20364138
nsv945297 CNV duplication 23825009
nsv945298 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
RAB3GAP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB3GAP2

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

Disorders for RAB3GAP2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
martsolf syndrome
  • cataract-intellectual disability-hypogonadism syndrome
warburg micro syndrome 2
  • micro syndrome 2
autosomal recessive spastic paraplegia type 69
  • spg69
warburg micro syndrome
  • micro syndrome
warburg micro syndrome 4
  • micro syndrome 4
- 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 IA … Maher ER (American journal of human genetics 2006) 2 3 4 60
  2. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G … Gleeson JG (Science (New York, N.Y.) 2014) 2 3 60
  3. Protein interaction profiling of the p97 adaptor UBXD1 points to a role for the complex in modulating ERGIC-53 trafficking. (PMID: 22337587) Haines DS … Deshaies RJ (Molecular & cellular proteomics : MCP 2012) 3 4 60
  4. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. (PMID: 20967465) Borck G … Kubisch C (Human genetics 2011) 3 4 60
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60

Products for RAB3GAP2 Gene

Sources for RAB3GAP2 Gene

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