Gene Gene information from NCBI Gene database.
Entrez ID 22931
Gene name RAB18, member RAS oncogene family
Gene symbol RAB18
Synonyms (NCBI Gene)
RAB18LI1WARBM3
Chromosome 10
Chromosome location 10p12.1
Summary 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 develo
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs387906832 T>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs387906833 T>A,C Pathogenic Coding sequence variant, synonymous variant, terminator codon variant, stop gained, non coding transcript variant, stop lost
rs587776875 AGA>- Pathogenic Coding sequence variant, intron variant, inframe deletion, non coding transcript variant
rs587777151 C>G Pathogenic Coding sequence variant, intron variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
498
miRTarBase ID miRNA Experiments Reference
MIRT050093 hsa-miR-26a-5p CLASH 23622248
MIRT047906 hsa-miR-30c-5p CLASH 23622248
MIRT047576 hsa-miR-10a-5p CLASH 23622248
MIRT046127 hsa-miR-30b-5p CLASH 23622248
MIRT042858 hsa-miR-324-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001654 Process Eye development ISS
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 24891604
GO:0003924 Function GTPase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602207 14244 ENSG00000099246
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NP72
Protein name Ras-related protein Rab-18 (EC 3.6.5.2)
Protein function The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:24891604, PubMed:30970241). Rabs cycle between an inactive GDP-bound form and an acti
PDB 1X3S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 10 171 Ras family Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 206
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neutrophil degranulation
COPI-independent Golgi-to-ER retrograde traffic
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
140
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Warburg micro syndrome 3 Pathogenic rs587777151, rs387906832, rs587776875, rs387906833 RCV000087132
RCV000023171
RCV000023173
RCV000023174
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs532562164 RCV005891837
Ovarian serous cystadenocarcinoma Benign rs12571836 RCV005891835
RAB18-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs146846414, rs11015859, rs750139202, rs2491653896, rs769837798, rs187076438, rs61757825, rs142609338, rs1346169896 RCV003905127
RCV003975035
RCV003897681
RCV003901544
RCV003892250
RCV003929526
RCV003977864
RCV003977865
RCV003968045
Sarcoma Benign rs148630305, rs12571836 RCV005891836
RCV005891834
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Diseases Associate 25332050
Breast Neoplasms Associate 24447584, 29949452, 32432324
Carcinoma Hepatocellular Associate 31106707
Carcinoma Non Small Cell Lung Associate 25249344
Intellectual Disability Associate 25332050
Microcephaly Associate 25332050
Mucopolysaccharidosis I Inhibit 32880920
Neoplasm Metastasis Stimulate 32432324
Neoplasms Associate 31106707
Warburg Sjo Fledelius syndrome Associate 21473985, 25332050, 37774976