Gene Gene information from NCBI Gene database.
Entrez ID 285282
Gene name RAB, member of RAS oncogene family like 3
Gene symbol RABL3
Synonyms (NCBI Gene)
PNCA5
Chromosome 3
Chromosome location 3q13.33
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs200612497 G>T Risk-factor Coding sequence variant, non coding transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
736
miRTarBase ID miRNA Experiments Reference
MIRT029456 hsa-miR-26b-5p Microarray 19088304
MIRT612626 hsa-miR-362-3p HITS-CLIP 19536157
MIRT612625 hsa-miR-329-3p HITS-CLIP 19536157
MIRT612624 hsa-miR-8485 HITS-CLIP 19536157
MIRT612623 hsa-miR-6729-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001779 Process Natural killer cell differentiation IEA
GO:0001779 Process Natural killer cell differentiation ISS
GO:0003924 Function GTPase activity IBA
GO:0005515 Function Protein binding IPI 31406347
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618542 18072 ENSG00000144840
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5HYI8
Protein name Rab-like protein 3
Protein function Required for KRAS signaling regulation and modulation of cell proliferation (PubMed:31406347). Regulator of KRAS prenylation, and probably prenylation of other small GTPases (PubMed:31406347). Required for lymphocyte development and function (By
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08477 Roc 8 132 Domain
Sequence
MASLDRVKVLVLGDSGVGKSSLVHLLCQNQVLGNPSWTVGCSVDVRVHDYKEGTPEEKTY
YIELWDVGGSVGSASSVKSTRAVFYNSVNGIIFVHDLTNKKSSQNLRRWSLEALNRDLVP
TGVLVTNGDYDQ
EQFADNQIPLLVIGTKLDQIHETKRHEVLTRTAFLAEDFNPEEINLDC
TNPRYLAAGSSNAVKLSRFFDKVIEKRYFLREGNQIPGFPDRKRFGAGTLKSLHYD
Sequence length 236
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
FAMILIAL PANCREATIC CARCINOMA GWAS catalog, Orphanet
GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Pancreatic cancer, susceptibility to, 5 risk factor ClinVar
ClinVar, GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28443498 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 27164297
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Development Disorder BEFREE 31406347
★☆☆☆☆
Found in Text Mining only
Lip and Oral Cavity Carcinoma Lip and Oral Cavity Carcinoma BEFREE 31748878
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 28443498, 28739496
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 27164297 Stimulate
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 28443498 Stimulate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 27164297
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of mouth Malignant neoplasm of mouth BEFREE 31748878
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of pancreas Pancreatic cancer CTD_human_DG 31406347
★☆☆☆☆
Found in Text Mining only