Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22931
Gene name Gene Name - the full gene name approved by the HGNC.
RAB18, member RAS oncogene family
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAB18
Synonyms (NCBI Gene) Gene synonyms aliases
RAB18LI1, WARBM3
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p12.1
Summary Summary of gene provided in NCBI Entrez 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 develo
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602207 14244 ENSG00000099246
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Warburg Micro Syndrome warburg micro syndrome 3 rs387906832, rs587776875, rs387906833, rs587777151 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset) N/A N/A GWAS
Associations from Text Mining Disease 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