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Aliases for RAB18 Gene

Aliases for RAB18 Gene

  • RAB18, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-18 3
  • 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 Martsolf Syndrome. Among its related pathways are Innate Immune System and Vesicle-mediated transport. GO annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB1A.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB18 Gene

Genomics for RAB18 Gene

Regulatory Elements for RAB18 Gene

Enhancers for RAB18 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
GH10G027540 0.5 ENCODE 6.5 +37.8 37845 3.0 FOXA2 FOS FOXA1 RAB18 FAM210CP GC10P027538 GC10P027539 LOC105376463
GH10G027513 0.5 ENCODE 6.2 +9.8 9815 0.9 ZNF316 MAFG EMSY PRDM1 MAFK RAB18 GC10P027522
GH10G027525 1.2 FANTOM5 Ensembl ENCODE 2 +22.1 22103 0.6 ZNF766 STAT1 POLR2A SMARCA4 MNT MYC RAB18 ACBD5 MASTL GC10P027522 GC10P027539 GC10P027538
GH10G027485 0.4 dbSUPER 4.6 -18.1 -18061 1.1 NFE2 PTCHD3 RAB18
GH10G027502 1.1 ENCODE 0.7 +0.5 450 3.7 HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 MASTL RAB18 GC10P027522
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAB18 on UCSC Golden Path with GeneCards custom track

Promoters for RAB18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000025861 526 1801 HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1

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

Post-translational modifications for RAB18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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.

Gene Ontology (GO) - Molecular Function for RAB18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity NAS 10648831
GO:0005515 protein binding IPI 23935497
GO:0005525 GTP binding IEA --
GO:0019003 GDP binding IDA 20937701
genes like me logo Genes that share ontologies with RAB18: view
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

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
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 RAB18 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 4
nucleus 2
mitochondrion 1
golgi apparatus 1
endosome 1

Gene Ontology (GO) - Cellular Components for RAB18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA,IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
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:0001654 eye development ISS --
GO:0006810 transport IEA --
GO:0007264 small GTPase mediated signal transduction IEA,NAS 10648831
GO:0007275 multicellular organism development 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RAB18 Gene



Protein tissue co-expression partners for RAB18 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAB18 Gene:

RAB18

SOURCE GeneReport for Unigene cluster for RAB18 Gene:

Hs.406799

mRNA Expression by UniProt/SwissProt for RAB18 Gene:

Q9NP72-RAB18_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for RAB18 Gene

  • Nervous system(5)
  • Lung(4.5)
  • Adrenal gland(4.4)
  • Skin(4.4)
  • Liver(2.1)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB18 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
  • penis
  • testicle
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with RAB18: 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 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 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia RAB18 35
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB18 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB18 34 35
  • 95.63 (n)
dog
(Canis familiaris)
Mammalia RAB18 34 35
  • 94.77 (n)
mouse
(Mus musculus)
Mammalia Rab18 34 16 35
  • 94.01 (n)
rat
(Rattus norvegicus)
Mammalia Rab18 34
  • 93.2 (n)
chicken
(Gallus gallus)
Aves RAB18 34 35
  • 86.57 (n)
lizard
(Anolis carolinensis)
Reptilia RAB18 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab18 34
  • 79.61 (n)
Str.10888 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.2842 34
zebrafish
(Danio rerio)
Actinopterygii rab18a 35
  • 82 (a)
OneToMany
rab18b 34 35
  • 73.66 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010875 34
  • 57.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rab18 34
  • 54.38 (n)
Rab-RP4 36 35
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea rab-18 36 34 35
  • 64.94 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC4 35
  • 40 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons RAB18 34
  • 60.98 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 73 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6152 34
Species where no ortholog for RAB18 was found in the sources mined by GeneCards:
  • 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

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
rs387906832 Pathogenic, Warburg micro syndrome 3 (WARBM3) [MIM:614222] 27,509,877(+) CAGCC(A/T)GCTCT nc-transcript-variant, reference, missense
rs387906833 Pathogenic 27,538,049(+) TGTTA(A/C/T)AAACT nc-transcript-variant, reference, synonymous-codon, stop-gained, stop-lost
rs587776875 Pathogenic 27,533,752(+) CAAGA(-/AGA)GATAC intron-variant, nc-transcript-variant, cds-indel
rs587777151 Pathogenic 27,533,759(+) AGATA(C/G)ATTTG intron-variant, nc-transcript-variant, reference, missense
rs10508722 Likely benign 27,538,809(+) GGAGG(A/T)CATGA nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2671913 CNV deletion 23128226
esv2734606 CNV deletion 23290073
esv2734617 CNV deletion 23290073
esv3622708 CNV gain 21293372
esv3622724 CNV gain 21293372
esv3622726 CNV loss 21293372
nsv1045257 CNV gain 25217958
nsv550241 CNV gain 21841781
nsv825319 CNV loss 20364138
nsv8614 CNV loss 18304495

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

Human Gene Mutation Database (HGMD)
RAB18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB18

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

Disorders for RAB18 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
warburg micro syndrome
  • micro syndrome
martsolf syndrome
  • cataract-intellectual disability-hypogonadism syndrome
warburg micro syndrome 1
  • micro syndrome
warburg micro syndrome 4
  • micro syndrome 4
spastic diplegia
  • cerebral palsy
- 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 64
  2. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. (PMID: 21473985) Bem D. … Aligianis I.A. (Am. J. Hum. Genet. 2011) 3 4 64
  3. Cloning and characterization of a novel splice variant of human Rab18 gene (RAB18). (PMID: 16147880) Dou T. … Mao Y. (DNA Seq. 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64

Products for RAB18 Gene

Sources for RAB18 Gene

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