Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
153020 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
RasGEF domain family member 1B |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
RASGEF1B |
SynonymsGene synonyms aliases
|
GPIG4 |
ChromosomeChromosome number
|
4 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
4q21.21 |
miRNAmiRNA information provided by mirtarbase database.
|
|
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 |
IDA |
19645719 |
GO:0005769 |
Component |
Early endosome |
IEA |
|
GO:0005770 |
Component |
Late endosome |
IEA |
|
GO:0007264 |
Process |
Small GTPase mediated signal transduction |
IEA |
|
GO:0030496 |
Component |
Midbody |
IEA |
|
GO:0050790 |
Process |
Regulation of catalytic activity |
IEA |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
29212778 |
Arthritis |
Juvenile arthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
19565504 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Juvenile arthritis |
Juvenile psoriatic arthritis |
|
19565504 |
Seronegative polyarthritis |
Polyarthritis, Juvenile, Rheumatoid Factor Negative |
|
19565504 |
Polyarthritis, rheumatoid factor positive |
Polyarthritis, Juvenile, Rheumatoid Factor Positive |
|
19565504 |
Still disease |
Juvenile-Onset Still Disease |
|
19565504 |
|