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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAB18 Gene

protein-coding   GIFtS: 52
GCID: GC10P027793

RAB18, member RAS oncogene family
 Explore 19 diseases affiliated with
RAB18 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RAB18    

Aliases
for RAB18 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
RAB18, Member RAS Oncogene Family1 2
RAB18LI12
WARBM32
RAB18 Small GTPase2
Ras-Related Protein Rab-182

External Ids:    HGNC: 142441   Entrez Gene: 229312   Ensembl: ENSG000000992467   OMIM: 6022075   UniProtKB: Q9NP723   

Export aliases for RAB18 gene to outside databases

Previous GC identifers: GC10P027528 GC10P027943 GC10P027797 GC10P027833


Summaries
for RAB18 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for RAB18:
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)

UniProtKB/Swiss-Prot: RAB18_HUMAN, Q9NP72
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 Wiki entry for RAB18


Genomic Views
for RAB18 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAB18 gene promoter:
         Nkx3-1   Max1   Nkx3-1 v4   Pax-5   HTF   Nkx3-1 v1   Nkx3-1 v2   Nkx3-1 v3   Sox9   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RAB18 promoter sequence
   Search SABiosciences Chromatin IP Primers for RAB18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAB18


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p12.1   Ensembl cytogenetic band:  10p12.1   HGNC cytogenetic band: 10p12

RAB18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB18 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P027793:  view genomic region     (about GC identifiers)

Start:
 27,793,197 bp from pter      End:
 27,831,143 bp from pter
Size:
 37,947 bases      Orientation:
 plus strand

Proteins
for RAB18 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: RAB18_HUMAN, Q9NP72 (See protein sequence)
Recommended Name: Ras-related protein Rab-18 precursor  
Size: 206 amino acids; 22977 Da
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)
1 PDB 3D structure from and Proteopedia for RAB18:
1X3S (3D)    
Secondary accessions: B3KMC7 B7Z333 D3DRW1 Q53FX8 Q56UN9 Q6FIH1
Alternative splicing: 3 isoforms:  Q9NP72-1   Q9NP72-2   Q9NP72-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAB18: NX_Q9NP72

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NP72

    • RAB18 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001243339.1  NP_001243340.1  NP_001243341.1  NP_001243344.1  NP_067075.1  

    ENSEMBL proteins: 
     ENSP00000349415   ENSP00000364960   ENSP00000407872   ENSP00000439321  

    Human Recombinant Protein Products: 
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    Novus Biologicals RAB18 Proteins
    Novus Biologicals RAB18 Lysate
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    ProSpec Recombinant Protein for RAB18
    Uscn Proteins for RAB18

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005886plasma membrane IEA--


    RAB18 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for RAB18

    Protein Domains /
    Families
    for RAB18 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RAB18 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR025662 Sigma_54_int_dom_ATP-bd_1
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type

    Graphical View of Domain Structure for InterPro Entry Q9NP72

    ProtoNet protein and cluster: Q9NP72

    1 Blocks protein family: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RAB18_HUMAN, Q9NP72
    Similarity: Belongs to the small GTPase superfamily. Rab family


    Function
    for RAB18 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: RAB18_HUMAN, Q9NP72
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RAB18
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate RAB18 (see all 13):
    hsa-miR-3163 hsa-miR-455-5p hsa-miR-429 hsa-miR-338-5p hsa-miR-200c hsa-miR-4274 hsa-miR-19b hsa-miR-2276
    SwitchGear 3'UTR luciferase reporter plasmid: RAB18 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RAB18 (see all 7)
    OriGene shRNA RFP: RAB18
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for RAB18

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity NAS10648831
    GO:0005525GTP binding IEA--
    GO:0019003GDP binding IDA--


    RAB18 for ontologies           About GeneDecksing


    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Rab18):
     no phenotypic analysis 

    RAB18 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for RAB18 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sertoli-Sertoli Cell Junction Dynamics
    		Epithelial Tight Junctions0.36

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RAB18
        Epithelial Tight Junctions


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAB18

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/14 Interacting proteins for RAB18 (Q9NP723 ENSP000003494154) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP2R1AP301533, ENSP000003248044I2D: score=3 STRING: ENSP00000324804
    PPP2R1BP301543, ENSP000003113444I2D: score=3 STRING: ENSP00000311344
    TOM1L1O756743, ENSP000004089584I2D: score=3 STRING: ENSP00000408958
    CHMP243863, ENSP000003503864I2D: score=1 STRING: ENSP00000350386
    PDE6DO439243, ENSP000002876004I2D: score=4 STRING: ENSP00000287600
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001654eye development ISS--
    GO:0006184GTP catabolic process NAS10648831
    GO:0006897endocytosis NAS--
    GO:0007264small GTPase mediated signal transduction NAS10648831
    GO:0007420brain development ISS--


    RAB18 for ontologies           About GeneDecksing



    Drugs & Compounds
    for RAB18 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RAB18
    Search CenterWatch for drugs/clinical trials and news about RAB18 

    Transcripts
    for RAB18 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for RAB18 gene (5 alternative transcripts): 
    NM_001256410.1  NM_001256411.1  NM_001256412.1  NM_001256415.1  NM_021252.4  

    Unigene Cluster for RAB18:

    RAB18, member RAS oncogene family
    Hs.406799  [show with all ESTs]
    Unigene Representative Sequence: AB209698
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356940(uc001itv.3 uc001itw.3 uc010qdq.2 uc010qdr.2)
    ENST00000490236 ENST00000375802 ENST00000465772 ENST00000484281 ENST00000423465
    ENST00000535776

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RAB18
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate RAB18 (see all 13):
    hsa-miR-3163 hsa-miR-455-5p hsa-miR-429 hsa-miR-338-5p hsa-miR-200c hsa-miR-4274 hsa-miR-19b hsa-miR-2276
    SwitchGear 3'UTR luciferase reporter plasmid: RAB18 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RAB18 (see all 7)
    OriGene shRNA RFP: RAB18
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RAB18
    Clone
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    GenScript: all cDNA clones in your preferred vector: RAB18 (NM_021252)
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    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RAB18
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RAB18
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAB18

    Additional cDNA sequence: 

    AB209698.1 AF087860.1 AF136974.1 AF137372.1 AF498950.1 AF532968.1 AK001555.1 AK090947.1 
    AK223153.1 AK295443.1 AK297629.1 AK299457.1 AL136734.1 AY574034.1 BC015014.2 BC029350.1 
    BT009840.1 CR533455.1 NR_046172.1 

    24/26 DOTS entries (see all 26):

    DT.101985243  DT.100662115  DT.100662119  DT.318025  DT.412143  DT.92446118  DT.100662118  DT.206369 
    DT.95160609  DT.92446095  DT.92446098  DT.100741772  DT.102833242  DT.121240156  DT.121240182  DT.121240191 
    DT.121240230  DT.121240232  DT.121240303  DT.408113  DT.100662122  DT.100698239  DT.100720974  DT.121240209 

    24/344 AceView cDNA sequences (see all 344):

    T11345 BQ948704 AU280411 AW008823 AW949328 F02269 BM055207 F09812 
    BU175459 CR599854 AI569871 AI245046 CK819450 BC029350 AF498950 NM_021252 
    BU902431 AI015195 BM128819 BE739077 AU076877 BF197062 BM129064 BP340868 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for RAB18 (see all 9)    About this scheme

    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:                          -           -           -     -     -                                                               


    ECgene alternative splicing isoforms for RAB18

    Expression
    for RAB18 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAB18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See RAB18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAB18

    SOURCE GeneReport for Unigene cluster: Hs.406799

    UniProtKB/Swiss-Prot: RAB18_HUMAN, Q9NP72
    Tissue specificity: Ubiquitous

        SABiosciences Custom PCR Arrays for RAB18
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    In Situ
    Assay Products:     
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    Orthologs
    for RAB18 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RAB18 gene from 8/30 species (see all 30)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves RAB181 RAB18, member RAS oncogene family 86.57(n)
    97.09(a)    		   420483  NM_001006355.1  NP_001006355.1 
    lizard
    (Anolis carolinensis)    		 Reptilia RAB186
    		 --
    		 95(a)
    		 1 ↔ 1
    		 5(672540-686218)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.28422 Xenopus laevis, Similar to RAB18, member RAS oncogene more 81.8(n)    BC043996.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii rab18b1 RAB18B, member RAS oncogene family 73.66(n)
    88.78(a)    		   445055  NM_001003449.1  NP_001003449.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Rab-RP41 , 3 GTP binding3
    Rab-related protein 41    		 51(a)3
    53.58(n)1
    53.4(a)1    		   5A113
    443601  NM_080005.31  NP_524744.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea rab-181 , 3 Protein RAB-181 72(a)3
    62.37(n)1
    68.56(a)1    		   III(1151500-1152299)3
    1752721  NM_171081.31  NP_741092.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons RABC2A1 RAB GTPase-C2A 59.96(n)
    58.58(a)    		   831810  NM_120433.2  NP_568121.1 
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 ras-related protein, putative, expressed
    		 47(a)
    45(a)
    		 1 ↔ many
    1 ↔ many
    		 3(2552787-2558223)
    10(16621978-16626288)


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

    Paralogs
    for RAB18 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAB18 gene
    RAB102  RAB192  RAB432  RAB262  RAB8A2  RAB372  RAB352  RAB8B2  
    RAB1B2  RAB122  RAB302  RAB1A2  RAB132  
    18/93 SIMAP similar genes for RAB18 using alignment to 3 protein entries:     RAB18_HUMAN (see all proteins) (see all similar genes):
    rab1b    DKFZp686J06205    RAB17    RAB30    RAB8B    RAB43
    RAB15    RAB10    RAB2B    RAB19    RAB7A    RAB13
    RAB38    RAB8A    RAB3A    RAB3B    RAB11A    RAB7L1

    RAB18 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for RAB18
    PGOHUM00000238395 PGOHUM00000238708 PGOHUM00000243734


    Genomic Variants
    for RAB18 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/635 NCBI SNPs in RAB18 are shown (see all 635)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs110158251,2
    		C,F,H,--27508414(+) NNNNAA/CGGGCT 6 -- us2k15Minor allele frequency- C:0.02NS EA NA 538
    rs787409511,2
    		--27508540(+) TGCCAC/TGAAGT 6 -- us2k10--------
    rs122613731,2
    		C,F,H,--27509211(+) TAATAC/TCTGAT 6 -- us2k113Minor allele frequency- T:0.09NS EA NA WA 1316
    rs617578251,2
    		C--27509862(+) ATCCTC/AATCAT 11 /L syn11Minor allele frequency- A:0.00NA 3544
    rs122637361,2
    		H--27510778(+) TGATCC/TTTAAA 6 -- int14Minor allele frequency- T:0.00NS EA 418
    rs558198351,2
    		C,--27511681(+) GGTTGG/TTTAGC 6 -- int12Minor allele frequency- T:0.04NA 122
    rs125732921,2
    		C,F,H--27512469(+) TGCTGG/TGGAAA 6 -- int11Minor allele frequency- T:0.50NA 4
    rs784850301,2
    		--27512567(+) CATTTG/ACTGTG 6 -- int11Minor allele frequency- A:0.01WA 118
    rs750373261,2
    		C,--27512714(+) TAGTG-/TGATTT 6 -- int10--------
    rs578103901,2
    		C,--27512985(+) TCCCTC/TCTTTG 6 -- int11Minor allele frequency- T:0.50WA 2

    HapMap Linkage Disequilibrium report for RAB18 (27793197 - 27831143 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RAB18: --
    Human Gene Mutation Database (HGMD): RAB18

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RAB18
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    Disorders / Diseases
    for RAB18 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    RAB18 for disorders           About GeneDecksing

    OMIM gene information: 602207    OMIM disorders: --

    UniProtKB/Swiss-Prot: RAB18_HUMAN, Q9NP72
  • Defects in RAB18 are the cause of Warburg micro syndrome type 3 (WARBM3) [MIM:614222]. WARBM3 is 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

    19 diseases for RAB18:    About MalaCards
    warburg micro syndrome    micro syndrome    hemophagocytic lymphohistiocytosis    spastic diplegia
    corpus callosum    large cell medulloblastoma    childhood medulloblastoma    optic atrophy
    pituitary tumor    congenital cataracts    medulloblastoma    spasticity
    cataract    acromegaly    microphthalmia    hypogonadism
    microcephaly    neurodegeneration    malaria

    2 diseases from the University of Copenhagen DISEASES database for RAB18:
    Large cell medulloblastoma     Hormone producing pituitary cancer

    Export disorders for RAB18 gene to outside databases

    Publications
    for RAB18 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RAB18 gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with RAB18)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterisation of the human rab18 gene after stimulation of endothelial cells with histamine. (PubMed id 10648831)1, 2, 3 Schaefer U.... Neugebauer E. (2000)
    2. Loss-of-function mutations in RAB18 cause Warburg mic ro syndrome. (PubMed id 21473985)1, 2 Bem D....Aligianis I.A. (2011)
    3. Cloning and characterization of a novel splice variant of human Rab18 gene (RAB18). (PubMed id 16147880)1, 2 Dou T.... Mao Y. (2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    7. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    8. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    External Searches for RAB18 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing RAB18 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 22931 HGNC: 14244 AceView: RAB18 Ensembl:ENSG00000099246 euGenes: HUgn22931
    ECgene: RAB18 H-InvDB: RAB18

    Other Databases showing RAB18 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RAB18 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RAB18 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB18 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for RAB18 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for RAB18 gene:
    Search GeneIP for patents involving RAB18

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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