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 ... See more...

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 Non-Catalytic Subunit 3 4
  • Rab3 GTPase-Activating Protein 150 KDa Subunit 3 4
  • Rab3-GAP Regulatory Subunit 3 4
  • Rab3-GAP P150 3 4
  • RAB3-GAP150 2 3
  • RGAP-Iso 3 4
  • KIAA0839 2 4
  • SPG69 2 3
  • DKFZP434D245 2
  • Rab3-GAP150 4
  • RAB3GAP150 3
  • RAB3GAP2 5
  • WARBM2 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 Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and Rab GTPase binding.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB3GAP2 Gene

Genomics for RAB3GAP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB3GAP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB3GAP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB3GAP2

Top Transcription factor binding sites by QIAGEN in the RAB3GAP2 gene promoter:
  • AP-1
  • c-Fos
  • FOXJ2
  • FOXJ2 (long isoform)
  • Hlf
  • LUN-1
  • Nkx6-1
  • POU6F1 (c2)
  • YY1
  • ZID

Genomic Locations for RAB3GAP2 Gene

Latest Assembly
chr1:220,148,293-220,272,453
(GRCh38/hg38)
Size:
124,161 bases
Orientation:
Minus strand

Previous Assembly
chr1:220,321,635-220,445,795
(GRCh37/hg19 by Entrez Gene)
Size:
124,161 bases
Orientation:
Minus strand

chr1:220,321,635-220,445,796
(GRCh37/hg19 by Ensembl)
Size:
124,162 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 Lys1363
  • Modification sites at PhosphoSitePlus

Other Protein References for RAB3GAP2 Gene

Antibodies for research

No data available for DME Specific Peptides for RAB3GAP2 Gene

Domains & Families for RAB3GAP2 Gene

Gene Families for RAB3GAP2 Gene

Protein Domains for RAB3GAP2 Gene

Suggested Antigen Peptide Sequences for RAB3GAP2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ78421, highly similar to Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA (A6H8V0_HUMAN)
  • Rab3-GAP regulatory subunit (RBGPR_HUMAN)

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:0005085 contributes_to guanyl-nucleotide exchange factor activity IMP 24891604
GO:0005096 GTPase activator activity TAS,IEA --
GO:0005515 protein binding ISS --
GO:0008047 enzyme activator activity TAS 9733780
GO:0030234 enzyme regulator activity ISS --
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 Models for RAB3GAP2 Gene

MGI Knock Outs for RAB3GAP2:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB3GAP2

No data available for Enzyme Numbers (IUBMB) , 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
cytosol 5
plasma membrane 4
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

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:0032991 protein-containing 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:0043087 regulation of GTPase activity IEA,ISS --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0097051 establishment of protein localization to endoplasmic reticulum membrane IMP 24891604
GO:1903061 positive regulation of protein lipidation IMP 25495476
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

mRNA/cDNA for RAB3GAP2 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB3GAP2

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

No ASD Table

Relevant External Links for RAB3GAP2 Gene

GeneLoc Exon Structure for
RAB3GAP2

Expression for RAB3GAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for RAB3GAP2 Gene



Protein tissue co-expression partners for RAB3GAP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Lymph node(4.2)
  • Spleen(4.2)
  • Liver(2.7)
  • Skin(2.3)
  • Eye(2.3)
  • Lung(2.1)

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
Regions:
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 for research

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 29 30
  • 99.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB3GAP2 29 30
  • 91.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB3GAP2 29 30
  • 89.77 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB3GAP2 30
  • 89 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 86 (a)
OneToMany
-- 30
  • 71 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Rab3gap2 29 16 30
  • 84.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab3gap2 29
  • 84.52 (n)
Chicken
(Gallus gallus)
Aves RAB3GAP2 29 30
  • 76.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB3GAP2 30
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab3gap2 29
  • 70.82 (n)
Zebrafish
(Danio rerio)
Actinopterygii rab3gap2 29 30
  • 62.04 (n)
OneToOne
wufb94b08 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7241 29
Fruit Fly
(Drosophila melanogaster)
Insecta rab3-GAP 29 30
  • 44.64 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001533 29
  • 41.16 (n)
Worm
(Caenorhabditis elegans)
Secernentea rbg-2 30
  • 20 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G14910 29
  • 45.32 (n)
Rice
(Oryza sativa)
Liliopsida Os09g0315800 29
  • 42.13 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 57 (a)
OneToMany
CSA.583 30
  • 39 (a)
OneToMany
Species where no ortholog for RAB3GAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RAB3GAP2: view image
Alliance of Genome Resources:
Additional Orthologs for RAB3GAP2

Paralogs for RAB3GAP2 Gene

No data available for Paralogs for RAB3GAP2 Gene

Variants for RAB3GAP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB3GAP2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1019074 Uncertain Significance: Cataract-intellectual disability-hypogonadism syndrome; Warburg micro syndrome 2 220,167,598(-) C/T
NM_012414.4(RAB3GAP2):c.2884G>A (p.Glu962Lys)
MISSENSE
1019454 Uncertain Significance: Cataract-intellectual disability-hypogonadism syndrome; Warburg micro syndrome 2 220,213,876(-) T/C
NM_012414.4(RAB3GAP2):c.284A>G (p.Gln95Arg)
MISSENSE
1030254 Pathogenic: Cataract-intellectual disability-hypogonadism syndrome 220,191,127(-) TTC/T
NM_012414.4(RAB3GAP2):c.1426_1427del (p.Glu476fs)
FRAMESHIFT
1030255 Pathogenic: Cataract-intellectual disability-hypogonadism syndrome 220,191,121(-) C/CCA
NM_012414.4(RAB3GAP2):c.1432_1433dup (p.Trp478fs)
FRAMESHIFT
1030256 Pathogenic: Cataract-intellectual disability-hypogonadism syndrome 220,172,683(-) TGACT/CCACAGTC
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGG (p.Gln789_Ser790delinsArgLeuTrp)
INFRAME_INDEL

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB3GAP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for RAB3GAP2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for RAB3GAP2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for RAB3GAP2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
martsolf syndrome
  • cataract-mental retardation-hypogonadism
warburg micro syndrome 2
  • warbm2
warburg micro syndrome 1
  • warbm1
autosomal recessive spastic paraplegia type 69
  • spg69
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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for 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 72
  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 72
  3. Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. (PMID: 23420520) Handley MT … Aligianis IA (Human mutation 2013) 3 72
  4. 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
  5. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. (PMID: 20967465) Borck G … Kubisch C (Human genetics 2011) 3 4

Products for RAB3GAP2 Gene

Sources for RAB3GAP2 Gene