Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
153020
Gene name Gene Name - the full gene name approved by the HGNC.
RasGEF domain family member 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RASGEF1B
Synonyms (NCBI Gene) Gene synonyms aliases
GPIG4
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q21.21
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT437661 hsa-miR-195-5p Microarray, qRT-PCR 22815788
MIRT616351 hsa-miR-1237-3p HITS-CLIP 23824327
MIRT616350 hsa-miR-1248 HITS-CLIP 23824327
MIRT616349 hsa-miR-6868-3p HITS-CLIP 23824327
MIRT616348 hsa-miR-1287-3p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
E2F1 Activation 18396012
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 19645719
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005768 Component Endosome IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614532 24881 ENSG00000138670
Protein
UniProt ID Q0VAM2
Protein name Ras-GEF domain-containing family member 1B (GPI gamma-4)
Protein function Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, it doesn't seems to activate other Ras family proteins (in vitro).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00618 RasGEF_N 37 138 RasGEF N-terminal motif Domain
PF00617 RasGEF 208 403 RasGEF domain Family
Sequence
Sequence length 473
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS