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Aliases for RAB18 Gene

Aliases for RAB18 Gene

  • RAB18, Member RAS Oncogene Family 2 3 5
  • RAB18 Small GTPase 3
  • RAB18LI1 3
  • WARBM3 3

External Ids for RAB18 Gene

Previous GeneCards Identifiers for RAB18 Gene

  • GC10P027528
  • GC10P027943
  • GC10P027797
  • GC10P027833
  • GC10P027793

Summaries for RAB18 Gene

Entrez Gene Summary for RAB18 Gene

  • The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for RAB18 Gene

RAB18 (RAB18, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB18 include warburg micro syndrome and warburg micro syndrome 4. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Vesicle-mediated transport. GO annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB33A.

UniProtKB/Swiss-Prot for RAB18 Gene

  • Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration.

Gene Wiki entry for RAB18 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB18 Gene

Genomics for RAB18 Gene

Regulatory Elements for RAB18 Gene

Promoters for RAB18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAB18 on UCSC Golden Path with GeneCards custom track

Genomic Location for RAB18 Gene

Chromosome:
10
Start:
27,504,174 bp from pter
End:
27,542,237 bp from pter
Size:
38,064 bases
Orientation:
Plus strand

Genomic View for RAB18 Gene

Genes around RAB18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB18 Gene

Proteins for RAB18 Gene

  • Protein details for RAB18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP72-RAB18_HUMAN
    Recommended name:
    Ras-related protein Rab-18
    Protein Accession:
    Q9NP72
    Secondary Accessions:
    • B3KMC7
    • B7Z333
    • D3DRW1
    • Q53FX8
    • Q56UN9
    • Q6FIH1

    Protein attributes for RAB18 Gene

    Size:
    206 amino acids
    Molecular mass:
    22977 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RAB18 Gene

    Alternative splice isoforms for RAB18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB18 Gene

Proteomics data for RAB18 Gene at MOPED

Post-translational modifications for RAB18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for RAB18 Gene

Domains & Families for RAB18 Gene

Gene Families for RAB18 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NP72

UniProtKB/Swiss-Prot:

RAB18_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 RAB18: view

Function for RAB18 Gene

Molecular function for RAB18 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration.
genes like me logo Genes that share phenotypes with RAB18: view

Human Phenotype Ontology for RAB18 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB18 Gene

Localization for RAB18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB18 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB18 Gene COMPARTMENTS Subcellular localization image for RAB18 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
cytosol 3
plasma membrane 3
nucleus 2
golgi apparatus 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for RAB18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RAB18: view

Pathways & Interactions for RAB18 Gene

genes like me logo Genes that share pathways with RAB18: view

Gene Ontology (GO) - Biological Process for RAB18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006913 nucleocytoplasmic transport IEA --
GO:0007420 brain development ISS --
genes like me logo Genes that share ontologies with RAB18: view

No data available for SIGNOR curated interactions for RAB18 Gene

Drugs & Compounds for RAB18 Gene

No Compound Related Data Available

Transcripts for RAB18 Gene

Unigene Clusters for RAB18 Gene

RAB18, member RAS oncogene family:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAB18 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e · 9f
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - - -
SP5: - - - - -
SP6: - - -
SP7:
SP8:
SP9: -

Relevant External Links for RAB18 Gene

GeneLoc Exon Structure for
RAB18
ECgene alternative splicing isoforms for
RAB18

Expression for RAB18 Gene

mRNA expression in normal human tissues for RAB18 Gene

Protein differential expression in normal tissues from HIPED for RAB18 Gene

This gene is overexpressed in Milk (8.9), Bone (7.3), and Peripheral blood mononuclear cells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAB18 Gene



SOURCE GeneReport for Unigene cluster for RAB18 Gene Hs.406799

mRNA Expression by UniProt/SwissProt for RAB18 Gene

Q9NP72-RAB18_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with RAB18: view

Protein tissue co-expression partners for RAB18 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 RAB18 Gene

Orthologs for RAB18 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB18 36
  • 100 (a)
OneToOne
RAB18 35
  • 100 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia RAB18 36
  • 100 (a)
OneToOne
RAB18 35
  • 95.63 (n)
  • 99.51 (a)
dog
(Canis familiaris)
Mammalia RAB18 35
  • 94.77 (n)
  • 97.84 (a)
RAB18 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab18 36
  • 99 (a)
OneToOne
Rab18 16
Rab18 35
  • 94.01 (n)
  • 99.03 (a)
oppossum
(Monodelphis domestica)
Mammalia RAB18 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB18 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab18 35
  • 93.2 (n)
  • 98.54 (a)
chicken
(Gallus gallus)
Aves RAB18 36
  • 97 (a)
OneToOne
RAB18 35
  • 86.57 (n)
  • 97.09 (a)
lizard
(Anolis carolinensis)
Reptilia RAB18 36
  • 95 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2842 35
tropical clawed frog
(Silurana tropicalis)
Amphibia rab18 35
  • 79.61 (n)
  • 91.26 (a)
Str.10888 35
zebrafish
(Danio rerio)
Actinopterygii rab18b 35
  • 73.66 (n)
  • 88.78 (a)
rab18a 36
  • 82 (a)
OneToMany
rab18b 36
  • 88 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010875 35
  • 57.97 (n)
  • 67.39 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rab-RP4 36
  • 51 (a)
OneToOne
Rab-RP4 37
  • 51 (a)
Rab18 35
  • 54.38 (n)
  • 54.19 (a)
worm
(Caenorhabditis elegans)
Secernentea rab-18 37
  • 72 (a)
rab-18 36
  • 67 (a)
OneToOne
rab-18 35
  • 64.94 (n)
  • 72.99 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC4 36
  • 40 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons RAB18 35
  • 60.98 (n)
  • 62.5 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6152 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 73 (a)
OneToOne
Species with no ortholog for RAB18:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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 RAB18 Gene

ENSEMBL:
Gene Tree for RAB18 (if available)
TreeFam:
Gene Tree for RAB18 (if available)

Paralogs for RAB18 Gene

Pseudogenes.org Pseudogenes for RAB18 Gene

genes like me logo Genes that share paralogs with RAB18: view

Variants for RAB18 Gene

Sequence variations from dbSNP and Humsavar for RAB18 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs11015859 - 27,538,022(+) GAGGA(A/G)CCTGT nc-transcript-variant, reference, synonymous-codon, missense
rs12268932 - 27,533,813(+) AAGAA(A/G)TGACA intron-variant, nc-transcript-variant, reference, missense
VAR_066495 Warburg micro syndrome 3 (WARBM3)
rs10020 -- 27,539,063(-) TATTT(C/T)CCCTC nc-transcript-variant, utr-variant-3-prime
rs1047915 -- 27,541,990(+) TAAAG(A/T)TGTTT nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RAB18 Gene

Variant ID Type Subtype PubMed ID
nsv8614 CNV Loss 18304495
esv2734606 CNV Deletion 23290073
nsv825319 CNV Loss 20364138
esv2671913 CNV Deletion 23128226
esv2734617 CNV Deletion 23290073

Variation tolerance for RAB18 Gene

Residual Variation Intolerance Score: 48.6% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB18 Gene

HapMap Linkage Disequilibrium report
RAB18
Human Gene Mutation Database (HGMD)
RAB18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB18 Gene

Disorders for RAB18 Gene

MalaCards: The human disease database

(8) MalaCards diseases for RAB18 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
warburg micro syndrome
  • micro syndrome
warburg micro syndrome 4
  • warbm4
microcephaly, short stature, and impaired glucose metabolism
  • microcephaly, short stature, and impaired glucose metabolism 1
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
spastic diplegia
  • cerebral spastic infantile paralysis
- elite association - COSMIC cancer census association via MalaCards
Search RAB18 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAB18_HUMAN
  • Warburg micro syndrome 3 (WARBM3) [MIM:614222]: 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:21473985}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RAB18

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB18
genes like me logo Genes that share disorders with RAB18: view

No data available for Genatlas for RAB18 Gene

Publications for RAB18 Gene

  1. Isolation and characterisation of the human rab18 gene after stimulation of endothelial cells with histamine. (PMID: 10648831) Schaefer U. … Neugebauer E. (FEBS Lett. 2000) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. (PMID: 26063829) Handley M.T. … FitzPatrick D.R. (Open Biol 2015) 3
  4. Proteomic analysis of the epidermal growth factor receptor (EGFR) interactome and post-translational modifications associated with receptor endocytosis in response to EGF and stress. (PMID: 24797263) Tong J. … Moran M.F. (Mol. Cell Proteomics 2014) 3
  5. Rab18 and a Rab18 GEF complex are required for normal ER structure. (PMID: 24891604) Gerondopoulos A. … Barr F.A. (J. Cell Biol. 2014) 3

Products for RAB18 Gene

Sources for RAB18 Gene

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