ARHGEF5 (Rho guanine nucleotide exchange factor 5)

2003-02-01  

Identity

HGNC
LOCATION
7q35
LOCUSID
ALIAS
GEF5,P60,TIM,TIM1

Other Information

Locus ID:

NCBI: 7984
MIM: 600888
HGNC: 13209
Ensembl: ENSG00000050327

Variants:

dbSNP: 7984
ClinVar: 7984
TCGA: ENSG00000050327
COSMIC: ARHGEF5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000050327ENST00000056217Q12774
ENSG00000050327ENST00000471847Q12774
ENSG00000050327ENST00000471847A0A090N7S2
ENSG00000050327ENST00000474817H0Y895
ENSG00000050327ENST00000498580C9J591

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
p75 NTR receptor-mediated signallingREACTOMER-HSA-193704
Cell death signalling via NRAGE, NRIF and NADEREACTOMER-HSA-204998
NRAGE signals death through JNKREACTOMER-HSA-193648
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (12/13) signalling eventsREACTOMER-HSA-416482

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
236470722013Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.86
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
184442432008Disturbance of circadian gene expression in hepatocellular carcinoma.48
233596762013Human Tim-Tipin complex affects the biochemical properties of the replicative DNA helicase and DNA polymerases.27
197132152009Regulation of immature dendritic cell migration by RhoA guanine nucleotide exchange factor Arhgef5.23
215250372011The guanine nucleotide exchange factor Arhgef5 plays crucial roles in Src-induced podosome formation.18
265032452016Tim/Timeless, a member of the replication fork protection complex, operates with the Warsaw breakage syndrome DNA helicase DDX11 in the same fork recovery pathway.17
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
241269232013Co-expression of Rho guanine nucleotide exchange factor 5 and Src associates with poor prognosis of patients with resected non-small cell lung cancer.5
241578102014Identification of tumor antigens that elicit a humoral immune response in the sera of Chinese esophageal squamous cell carcinoma patients by modified serological proteome analysis.4

Citation

Dessen P

ARHGEF5 (Rho guanine nucleotide exchange factor 5)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/701/arhgef5