Gene Gene information from NCBI Gene database.
Entrez ID 57799
Gene name RAB40C, member RAS oncogene family
Gene symbol RAB40C
Synonyms (NCBI Gene)
RARLRASL8C
Chromosome 16
Chromosome location 16p13.3
miRNA miRNA information provided by mirtarbase database.
303
miRTarBase ID miRNA Experiments Reference
MIRT041652 hsa-miR-484 CLASH 23622248
MIRT053472 hsa-let-7a-5p ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 21349817
MIRT571423 hsa-miR-3925-5p PAR-CLIP 20371350
MIRT571422 hsa-miR-5091 PAR-CLIP 20371350
MIRT571421 hsa-miR-5739 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 35512830
GO:0000139 Component Golgi membrane IEA
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
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
619551 18285 ENSG00000197562
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96S21
Protein name Ras-related protein Rab-40C (EC 3.6.5.2) (Rar-like protein) (Ras-like protein family member 8C) (SOCS box-containing protein RAR3)
Protein function RAB40C small GTPase acts as substrate-recognition component of the ECS(RAB40C) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15601820, PubMed:35512830). The Rab40
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 16 176 Ras family Domain
PF07525 SOCS_box 189 225 SOCS box Domain
Sequence
Sequence length 281
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RAB geranylgeranylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR SALIVARY GLAND CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR SALIVARY GLAND CARCINOMA 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
Breast Neoplasms Breast neoplasm Pubtator 28349825 Associate
★☆☆☆☆
Found in Text Mining only
Impaired cognition Impaired Cognition BEFREE 9582072
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 21349817
★☆☆☆☆
Found in Text Mining only
Muscular Dystrophy, Duchenne Duchenne Muscular Dystrophy BEFREE 12145744
★☆☆☆☆
Found in Text Mining only
Profound Mental Retardation Mental retardation BEFREE 12145744
★☆☆☆☆
Found in Text Mining only
Stomach Carcinoma Stomach Carcinoma BEFREE 21349817
★☆☆☆☆
Found in Text Mining only