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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Warburg micro syndrome 3 Pathogenic rs587777151, rs387906832, rs587776875, rs387906833 RCV000087132
RCV000023171
RCV000023173
RCV000023174
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
APERT SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 18349058
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly LHGDN 18349058
★☆☆☆☆
Found in Text Mining only
Blepharophimosis Blepharophimosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Brachycephaly Brachycephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 25332050 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24447584, 29949452, 32432324 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Cancer of Nasopharynx Nasopharyngeal Cancer BEFREE 12800201
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31106707 Associate
★☆☆☆☆
Found in Text Mining only