Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51715
Gene name Gene Name - the full gene name approved by the HGNC.
RAB23, member RAS oncogene family
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAB23
Synonyms (NCBI Gene) Gene synonyms aliases
HSPC137
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p12.1-p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The enco
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121908171 A>T Pathogenic Intron variant, coding sequence variant, stop gained
rs765443042 G>A Pathogenic, conflicting-interpretations-of-pathogenicity Coding sequence variant, stop gained, non coding transcript variant
rs1060505026 C>G Pathogenic Intron variant, coding sequence variant, missense variant
rs1438138090 ->A Pathogenic Stop gained, intron variant, coding sequence variant
rs1593223800 ->T Pathogenic Coding sequence variant, stop gained, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001513 hsa-miR-155-5p pSILAC 18668040
MIRT001513 hsa-miR-155-5p Proteomics;Other 18668040
MIRT024924 hsa-miR-215-5p Microarray 19074876
MIRT026693 hsa-miR-192-5p Microarray 19074876
MIRT027149 hsa-miR-103a-3p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000045 Process Autophagosome assembly IMP 22452336
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 17646400, 22365972
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606144 14263 ENSG00000112210
Protein
UniProt ID Q9ULC3
Protein name Ras-related protein Rab-23 (EC 3.6.5.2)
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 8YIM , 8YL3 , 8YNR , 8YO0 , 8YP0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 11 171 Ras family Domain
Sequence
Sequence length 237
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RAB geranylgeranylation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Carpenter Syndrome carpenter syndrome, RAB23-related Carpenter syndrome rs1593223920, rs121908171, rs1438138090, rs1593223800, rs765443042, rs1060505026 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalopolysyndactyly Type II Associate 17503333, 21412941
Adenocarcinoma Follicular Stimulate 17660800
Adenoma Associate 17660800
Astrocytoma Associate 26897750
Breast Neoplasms Associate 24447584
Calcinosis Cutis Associate 25867419
Carcinoma Hepatocellular Associate 17373734, 37884351
Carcinoma Hepatocellular Stimulate 30191377
Carcinoma Pancreatic Ductal Associate 25867419
Carcinoma Papillary Follicular Associate 17660800