This gene is a member of the RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec ... See more...

Aliases for RAB3C Gene

Aliases for RAB3C Gene

  • RAB3C, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-3C 3 4
  • RAB3C 5

External Ids for RAB3C Gene

Previous GeneCards Identifiers for RAB3C Gene

  • GC05P057849
  • GC05P057894
  • GC05P057914
  • GC05P054835

Summaries for RAB3C Gene

Entrez Gene Summary for RAB3C Gene

  • This gene is a member of the RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for RAB3C Gene

RAB3C (RAB3C, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB3C include Focal Epithelial Hyperplasia and Waardenburg Syndrome, Type 2D. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include GTP binding and myosin V binding. An important paralog of this gene is RAB3A.

UniProtKB/Swiss-Prot Summary for RAB3C Gene

  • Protein transport. Probably involved in vesicular traffic (By similarity).

Gene Wiki entry for RAB3C Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB3C Gene

Genomics for RAB3C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB3C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J058581 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.8 835 2.4 ZNF600 SIX5 ZIC2 ZBTB10 YY1 CTCF REST KLF11 ETS1 ZNF341 RAB3C GAPT RF00017-4184
GH05J058629 Enhancer 0.8 Ensembl ENCODE 5.9 +47.3 47331 2.2 YY1 FOXA2 RXRA ZBTB33 JUND FOXP1 BCL6 HNF4A RAD21 IKZF5 LINC02108 RAB3C RF00017-4184 piR-38352-443
GH05J058666 Enhancer 0.6 Ensembl ENCODE 5.4 +85.2 85249 2.8 YY1 CREB1 HLF CHD2 NR2F2 GAPT RAB3C piR-38352-443 piR-61514-139
GH05J058670 Enhancer 0.4 Ensembl ENCODE 4.9 +88.7 88723 1.1 SREBF1 GAPT RAB3C piR-38352-443 piR-61514-139
GH05J059063 Enhancer 1.2 FANTOM5 Ensembl ENCODE 1.8 +482.9 482881 5.3 ZNF580 ATF2 CEBPA CEBPB FEZF1 EP300 FOXA2 PRDM1 MAFF SAP130 ENSG00000247345 RAB3C piR-32214-550 piR-37895-128
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB3C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB3C

Top Transcription factor binding sites by QIAGEN in the RAB3C gene promoter:
  • AML1a
  • c-Myb
  • E47
  • FOXC1
  • FOXF2
  • GR
  • GR-alpha
  • GR-beta
  • MIF-1
  • Pax-4a

Genomic Locations for RAB3C Gene

Latest Assembly
chr5:58,582,152-58,859,394
(GRCh38/hg38)
Size:
277,243 bases
Orientation:
Plus strand

Previous Assembly
chr5:57,877,979-58,155,221
(GRCh37/hg19 by Entrez Gene)
Size:
277,243 bases
Orientation:
Plus strand

chr5:57,878,048-58,155,213
(GRCh37/hg19 by Ensembl)
Size:
277,166 bases
Orientation:
Plus strand

Genomic View for RAB3C Gene

Genes around RAB3C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB3C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB3C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB3C Gene

Proteins for RAB3C Gene

  • Protein details for RAB3C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96E17-RAB3C_HUMAN
    Recommended name:
    Ras-related protein Rab-3C
    Protein Accession:
    Q96E17

    Protein attributes for RAB3C Gene

    Size:
    227 amino acids
    Molecular mass:
    25952 Da
    Quaternary structure:
    • Interacts with RIMS1, RIMS2, RPH3A and RPH3AL (By similarity). Interacts with GDI2, CHM and CHML; phosphorylation at Thr-94 disrupts these interactions (PubMed:29125462).

neXtProt entry for RAB3C Gene

Post-translational modifications for RAB3C Gene

  • Phosphorylation of Thr-94 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitor GDI2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB3C Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for RAB3C
  • Boster Bio Antibodies for RAB3C

No data available for DME Specific Peptides for RAB3C Gene

Domains & Families for RAB3C Gene

Gene Families for RAB3C Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAB3C Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature

Suggested Antigen Peptide Sequences for RAB3C Gene

GenScript: Design optimal peptide antigens:
  • Ras-related protein Rab-3C (RAB3C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96E17

UniProtKB/Swiss-Prot:

RAB3C_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB3C: view

Function for RAB3C Gene

Molecular function for RAB3C Gene

UniProtKB/Swiss-Prot Function:
Protein transport. Probably involved in vesicular traffic (By similarity).

Phenotypes From GWAS Catalog for RAB3C Gene

Gene Ontology (GO) - Molecular Function for RAB3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IDA 24891604
GO:0005515 protein binding IPI 24891604
GO:0005525 GTP binding IEA --
GO:0030742 GTP-dependent protein binding IEA --
genes like me logo Genes that share ontologies with RAB3C: view
genes like me logo Genes that share phenotypes with RAB3C: view

Animal Models for RAB3C Gene

MGI Knock Outs for RAB3C:

miRNA for RAB3C Gene

miRTarBase miRNAs that target RAB3C

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB3C

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB3C Gene

Localization for RAB3C Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB3C Gene

Cell membrane. Lipid-anchor. Cytoplasmic side.

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 RAB3C gene
Compartment Confidence
plasma membrane 4
endosome 4
cytosol 4
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAB3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IBA 21873635
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IBA 21873635
GO:0008021 synaptic vesicle IEA,IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RAB3C: view

Pathways & Interactions for RAB3C Gene

genes like me logo Genes that share pathways with RAB3C: view

Pathways by source for RAB3C Gene

1 Sino Biological pathway for RAB3C Gene
1 Qiagen pathway for RAB3C Gene
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for RAB3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006904 vesicle docking involved in exocytosis IBA 21873635
GO:0009306 protein secretion IBA 21873635
GO:0015031 protein transport IEA --
GO:0017157 regulation of exocytosis IEA,IBA 21873635
GO:0019882 antigen processing and presentation IMP 19717423
genes like me logo Genes that share ontologies with RAB3C: view

No data available for SIGNOR curated interactions for RAB3C Gene

Drugs & Compounds for RAB3C Gene

No Compound Related Data Available

Transcripts for RAB3C Gene

mRNA/cDNA for RAB3C Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 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 RAB3C

Alternative Splicing Database (ASD) splice patterns (SP) for RAB3C Gene

No ASD Table

Relevant External Links for RAB3C Gene

GeneLoc Exon Structure for
RAB3C

Expression for RAB3C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB3C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB3C Gene

This gene is overexpressed in Brain - Hypothalamus (x7.0), Brain - Anterior cingulate cortex (BA24) (x6.9), Brain - Frontal Cortex (BA9) (x6.0), Brain - Cortex (x4.2), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for RAB3C Gene

This gene is overexpressed in Brain (26.8), Frontal cortex (15.4), and Peripheral blood mononuclear cells (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RAB3C Gene



Protein tissue co-expression partners for RAB3C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB3C

SOURCE GeneReport for Unigene cluster for RAB3C Gene:

Hs.482173

mRNA Expression by UniProt/SwissProt for RAB3C Gene:

Q96E17-RAB3C_HUMAN
Tissue specificity: Expressed in brain, placenta and lung.

Evidence on tissue expression from TISSUES for RAB3C Gene

  • Nervous system(4.7)
  • Lung(4.3)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with RAB3C: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB3C Gene

Orthologs for RAB3C Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB3C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB3C 29 30
  • 99.71 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB3C 30
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB3C 29 30
  • 93.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB3C 29 30
  • 91.59 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab3c 29 16 30
  • 89.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab3c 29
  • 88.69 (n)
Chicken
(Gallus gallus)
Aves RAB3C 29 30
  • 85.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB3C 30
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab3c 29
  • 79.3 (n)
Zebrafish
(Danio rerio)
Actinopterygii rab3c 29 30
  • 76.04 (n)
OneToOne
wufc17c11 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005255 29
  • 70.34 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rab3 29 30
  • 68.2 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rab-3 29 30
  • 65.92 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 81 (a)
OneToMany
Species where no ortholog for RAB3C 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RAB3C Gene

ENSEMBL:
Gene Tree for RAB3C (if available)
TreeFam:
Gene Tree for RAB3C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB3C: view image
Alliance of Genome Resources:
Additional Orthologs for RAB3C

Paralogs for RAB3C Gene

genes like me logo Genes that share paralogs with RAB3C: view

Variants for RAB3C Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB3C 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 RAB3C Gene

Variant ID Type Subtype PubMed ID
dgv109n17 CNV loss 16327808
dgv1609e212 CNV loss 25503493
dgv1610e212 CNV loss 25503493
dgv3093n106 CNV deletion 24896259
esv1066632 CNV insertion 17803354
esv1086361 CNV insertion 17803354
esv1096603 CNV insertion 17803354
esv1145647 CNV insertion 17803354
esv1163457 CNV deletion 17803354
esv2124830 CNV deletion 18987734
esv2422174 CNV deletion 20811451
esv2588706 CNV deletion 19546169
esv25926 CNV loss 19812545
esv2664706 CNV deletion 23128226
esv27205 CNV loss 19812545
esv2730219 CNV deletion 23290073
esv2730220 CNV deletion 23290073
esv2730221 CNV deletion 23290073
esv2730222 CNV deletion 23290073
esv2730223 CNV deletion 23290073
esv2730224 CNV deletion 23290073
esv2760929 CNV loss 21179565
esv2760968 CNV loss 21179565
esv2763882 CNV loss 21179565
esv3565963 CNV deletion 23714750
esv3565965 CNV deletion 23714750
esv3570158 CNV loss 25503493
esv3575847 CNV gain 25503493
esv3605160 CNV loss 21293372
esv3605161 CNV loss 21293372
esv3605162 CNV loss 21293372
esv989220 CNV deletion 20482838
nsv1020937 CNV loss 25217958
nsv1109699 CNV deletion 24896259
nsv1111297 CNV tandem duplication 24896259
nsv1120506 CNV tandem duplication 24896259
nsv1125843 CNV tandem duplication 24896259
nsv1125844 CNV tandem duplication 24896259
nsv328987 CNV deletion 16902084
nsv442950 CNV loss 18776908
nsv473206 CNV novel sequence insertion 20440878
nsv4845 CNV deletion 18451855
nsv514306 CNV loss 21397061
nsv598251 CNV loss 21841781
nsv830311 CNV gain 17160897
nsv956504 CNV deletion 24416366
nsv958282 CNV insertion 24416366
nsv965588 CNV deletion 23825009
nsv968177 CNV duplication 23825009

Variation tolerance for RAB3C Gene

Residual Variation Intolerance Score: 34.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.29; 6.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB3C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB3C
Leiden Open Variation Database (LOVD)
RAB3C

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB3C Gene

Disorders for RAB3C Gene

MalaCards: The human disease database

(2) MalaCards diseases for RAB3C Gene - From: COP

Disorder Aliases PubMed IDs
focal epithelial hyperplasia
  • heck disease
waardenburg syndrome, type 2d
  • ws2d
- elite association - COSMIC cancer census association via MalaCards
Search RAB3C in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB3C

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RAB3C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB3C Gene

Publications for RAB3C Gene

  1. Cloning, mapping, and characterization of the human Rab3C gene. (PMID: 12296628) Cheng H … Ma Y (Biochemical genetics 2002) 2 3 4 22
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 40
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3

Products for RAB3C Gene

Sources for RAB3C Gene