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Gene Gene information from NCBI Gene database.
Entrez ID 55647
Gene name RAB20, member RAS oncogene family
Gene symbol RAB20
Synonyms (NCBI Gene)
-
Chromosome 13
Chromosome location 13q34
miRNA miRNA information provided by mirtarbase database.
36 Show/Hide all (36)
miRTarBase ID miRNA Experiments Reference
MIRT1282366 hsa-miR-1299 CLIP-seq
MIRT1282367 hsa-miR-3148 CLIP-seq
MIRT1282368 hsa-miR-3166 CLIP-seq
MIRT1282369 hsa-miR-3665 CLIP-seq
MIRT1282370 hsa-miR-4771 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23 Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0005525 Function GTP binding IEA
GO:0005769 Component Early endosome IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NX57
Protein name Ras-related protein Rab-20 (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 7 → 202 Ras family Domain
Tissue specificity TISSUE SPECIFICITY: Low or absent expression in normal pancreas and stronger expression in 15 of 18 exocrine pancreatic adenocarcinomas (at protein level). {ECO:0000269|PubMed:16613320}.
Sequence
Sequence length 234
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
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 Reference Evidence Score
BILIARY ATRESIA — GWAS catalog 37572794
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM — GWAS catalog 30595370, 39024449, 39067062, 41238958
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (12)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 16613320
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 21102417
★★★★★
★☆☆☆☆
Found in Text Mining only
Aneuploidy Aneuploidy Pubtator 21102417 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 16613320, 21102417
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34401050 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Carotid Stenosis Carotid artery stenosis Pubtator 31589004 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypothyroidism Hypothyroidism GWASCAT_DG 30595370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 23018034
★★★★★
★☆☆☆☆
Found in Text Mining only
Myelodysplastic Syndromes Myelodysplastic syndrome Pubtator 15147372 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only