Gene Gene information from NCBI Gene database.
Entrez ID 5908
Gene name RAP1B, member of RAS oncogene family
Gene symbol RAP1B
Synonyms (NCBI Gene)
K-REVRAL1BTHC11
Chromosome 12
Chromosome location 12q15
Summary This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been
miRNA miRNA information provided by mirtarbase database.
720
miRTarBase ID miRNA Experiments Reference
MIRT006853 hsa-miR-518b Luciferase reporter assay 22958893
MIRT006853 hsa-miR-518b Luciferase reporter assay 22958893
MIRT020552 hsa-miR-155-5p Proteomics 18668040
MIRT023540 hsa-miR-1-3p Proteomics 18668040
MIRT028850 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 18309292
GO:0003924 Function GTPase activity IEA
GO:0003925 Function G protein activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
179530 9857 ENSG00000127314
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61224
Protein name Ras-related protein Rap-1b (EC 3.6.5.2) (GTP-binding protein smg p21B)
Protein function GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarizing activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localization of
PDB 3BRW , 3CF6 , 4DXA , 4HDO , 4HDQ , 4M8N , 4MGI , 4MGK , 4MGY , 4MGZ , 4MH0 , 5KHO , 6AXF , 6BA6 , 6KYK , 6OQ3 , 6OQ4 , 6UZK , 7C7I , 7C7J , 8SU8 , 8T09 , 8T7V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 5 167 Ras family Domain
Sequence
Sequence length 184
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
See cases Likely pathogenic rs2135963070 RCV001731131
Squamous cell carcinoma of the skin Pathogenic rs2499133668 RCV006254381
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies Likely pathogenic; Pathogenic rs2135963070, rs2499133668, rs2499143529 RCV003458752
RCV003459043
RCV003459044
RCV003459045
RCV003459143
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
RAP1B-related disorder Uncertain significance; Likely benign rs2499157183, rs150517257, rs747450838 RCV003422419
RCV003897349
RCV003929836
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32432747
Breast Neoplasms Associate 26209110
Carcinoma Non Small Cell Lung Associate 17951244
Carcinoma Renal Cell Associate 33759378
Chromosome 12 12p trisomy Stimulate 24829201
Clear cell metastatic renal cell carcinoma Associate 33759378
Colorectal Neoplasms Associate 24942287
Epilepsy rolandic with paroxysmal exercise induced dystonia and writer's cramp Associate 40646440
Esophageal Squamous Cell Carcinoma Associate 22958893
Gilbert Disease Associate 39225097