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Gene Gene information from NCBI Gene database.
Entrez ID 5878
Gene name RAB5C, member RAS oncogene family
Gene symbol RAB5C
Synonyms (NCBI Gene)
L1880RAB5CLRAB5LRABL
Chromosome 17
Chromosome location 17q21.2
Summary Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMI
miRNA miRNA information provided by mirtarbase database.
784 Show/Hide all (784)
miRTarBase ID miRNA Experiments Reference
MIRT001510 hsa-miR-155-5p pSILAC 18668040
MIRT016288 hsa-miR-193b-3p Proteomics 21512034
MIRT001510 hsa-miR-155-5p Proteomics;Other 18668040
MIRT048550 hsa-miR-100-5p CLASH 23622248
MIRT046868 hsa-miR-221-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38 Show/Hide all (38)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 17562788
GO:0003924 Function GTPase activity IEA
GO:0003924 Function GTPase activity TAS 8646882
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604037 9785 ENSG00000108774
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51148
Protein name Ras-related protein Rab-5C (EC 3.6.5.2) (L1880) (RAB5L)
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
PDB 4KYI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 23 → 184 Ras family Domain
Sequence
Sequence length 216
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Ras signaling pathway Golgi Associated Vesicle Biogenesis
Mitophagy - animal Neutrophil degranulation
Endocytosis TBC/RABGAPs
Phagosome Clathrin-mediated endocytosis
Efferocytosis RAB geranylgeranylation
Vasopressin-regulated water reabsorption RAB GEFs exchange GTP for GDP on RABs
Salmonella infection  
Amoebiasis  
Tuberculosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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.
Show/Hide Unknown Diseases (7)
Phenotype Name Clinical Significance Source Reference Evidence Score
AUTOIMMUNE DISEASE — GWAS catalog 30595370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE — GWAS catalog 32581359
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — GWAS catalog 35285134
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM — GWAS catalog 30595370, 34594039, 36093044, 39067062, 41238958
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 41 — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (16)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 30968159
★★★★★
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 Autoimmune Diseases GWASCAT_DG 30595370
★★★★★
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 Autoimmune Diseases GWASCAT_DG 30595370
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases GWASCAT_DG 30595370
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40545963 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Heart Failure Heart failure Pubtator 32602534 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypothyroidism Hypothyroidism GWASCAT_DG 30595370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms Malignant Neoplasm BEFREE 22734003
★★★★★
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 25096996 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only