Gene Gene information from NCBI Gene database.
Entrez ID 10966
Gene name RAB40B, member RAS oncogene family
Gene symbol RAB40B
Synonyms (NCBI Gene)
RARSEC4L
Chromosome 17
Chromosome location 17q25.3
Summary The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
152
miRTarBase ID miRNA Experiments Reference
MIRT005841 hsa-miR-204-5p Luciferase reporter assayMicroarrayqRT-PCR 21282569
MIRT024701 hsa-miR-215-5p Microarray 19074876
MIRT026754 hsa-miR-192-5p Microarray 19074876
MIRT030050 hsa-miR-26b-5p Microarray 19088304
MIRT005841 hsa-miR-204-5p Luciferase reporter assayqRT-PCRWestern blot 25790780
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001726 Component Ruffle IDA 33999101
GO:0001726 Component Ruffle 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
619550 18284 ENSG00000141542
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12829
Protein name Ras-related protein Rab-40B (EC 3.6.5.2) (SOCS box-containing protein RAR) (Protein Rar)
Protein function RAB40B small GTPase acts as substrate-recognition components of the ECS(RAB40B) E3 ubiquitin ligase complex which mediates the ubiquitination of target proteins (PubMed:33999101, PubMed:35293963). The Rab40 subfamily belongs to the Rab family th
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 278
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
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SKIN DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 8152281
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 10753851, 10800078, 11704848, 15896339, 16504291, 1652369, 7832190, 8152281, 8251913, 8562957, 9207466, 9657734
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11231454
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 23280144
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 28944907
★☆☆☆☆
Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS Atrichia With Papular Lesions BEFREE 16504291
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 15635645
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 15635645
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 15635645
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 22286019
★☆☆☆☆
Found in Text Mining only