Gene Gene information from NCBI Gene database.
Entrez ID 64284
Gene name RAB17, member RAS oncogene family
Gene symbol RAB17
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2q37.3
Summary The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).[supplied by OMIM, Oct 2009]
miRNA miRNA information provided by mirtarbase database.
209
miRTarBase ID miRNA Experiments Reference
MIRT639730 hsa-miR-500a-5p HITS-CLIP 23824327
MIRT639729 hsa-miR-5003-3p HITS-CLIP 23824327
MIRT649513 hsa-miR-3183 HITS-CLIP 23824327
MIRT649512 hsa-miR-4723-3p HITS-CLIP 23824327
MIRT649511 hsa-miR-6769b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
60
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002415 Process Immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor IEA
GO:0002415 Process Immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor ISS
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 17646400
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602206 16523 ENSG00000124839
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H0T7
Protein name Ras-related protein Rab-17 (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. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to r
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 21 182 Ras family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in melanocytes (at protein level). {ECO:0000269|PubMed:21291502}.
Sequence
Sequence length 212
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Efferocytosis   RAB geranylgeranylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS 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
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25707355 Inhibit
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 25707355, 26191189
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 26191189
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 22328529, 25707355, 26191189, 31841274
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 31841274
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 24716914 Associate
★☆☆☆☆
Found in Text Mining only