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Gene Gene information from NCBI Gene database.
Entrez ID 339122
Gene name RAB43, member RAS oncogene family
Gene symbol RAB43
Synonyms (NCBI Gene)
RAB11BRAB41
Chromosome 3
Chromosome location 3q21.3
miRNA miRNA information provided by mirtarbase database.
187 Show/Hide all (187)
miRTarBase ID miRNA Experiments Reference
MIRT643139 hsa-miR-6779-3p HITS-CLIP 23824327
MIRT617647 hsa-miR-4716-5p HITS-CLIP 23824327
MIRT617646 hsa-miR-1470 HITS-CLIP 23824327
MIRT617645 hsa-miR-4667-3p HITS-CLIP 23824327
MIRT661713 hsa-miR-7976 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30 Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000139 Component Golgi membrane IDA 16086013
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 17562788, 24891604
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.
Q86YS6
Protein name Ras-related protein Rab-43 (Ras-related protein Rab-41)
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 2HUP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 20 → 182 Ras family Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in brain, testis, lung, heart, ovary, colon, kidney, uterus and spleen but not in liver. {ECO:0000269|PubMed:15018353}.
Sequence
Sequence length 212
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Retrograde transport at the Trans-Golgi-Network
RAB geranylgeranylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
RAB43-related disorder Likely benign; Uncertain significance; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (37)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 30295752, 30786962
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 31802299
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 24373285 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31226964, 35596159 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36359911 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Clinodactyly Clinodactyly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Clinodactyly of fingers Clinodactyly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 31226964
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 31226964 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital clubfoot Congenital Clubfoot HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only