Gene Report

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Basic Info

Approved Symbol	ARHGEF5
Symbol Alias	TIM, TIM1, GEF5, P60
Approved Name	Rho guanine nucleotide exchange factor (GEF) 5
Name Alias	transforming immortalized mammary oncogene, "guanine nucleotide regulatory protein TIM"
Location	7q35
Position	chr7:144355288-144380632, 1
External Links	HGNC: 13209 Entrez Gene: 7984 Ensembl: ENSG00000050327 UCSC: uc003wel.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Dmitrzak-Weglarz, M. P., 2014	SNP: rs2291739, rs11171856	We found significant association between one TIM SNP and both BPDII and UPD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005089	Rho guanyl-nucleotide exchange factor activity	molecular function	IEA	7

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005525	GTP binding	molecular function	TAS[8134109]	20
GO:0043087	regulation of GTPase activity	biological process	IDA[21525037]	5
GO:0030036	actin cytoskeleton organization	biological process	IEA	9
GO:0071803	positive regulation of podosome assembly	biological process	IEA	2
GO:0035556	intracellular signal transduction	biological process	IEA	38
GO:0005515	protein binding	molecular function	IPI[21988832]	563
GO:0043547	positive regulation of GTPase activity	biological process	IEA	30
GO:0002408	myeloid dendritic cell chemotaxis	biological process	IEA	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 3)

ID	Name	No. of Genes in BDgene
rhoPathway	Rho cell motility signaling pathway	3
myosinPathway	PKC-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase	2
Par1Pathway	Thrombin signaling and protease-activated receptors	4

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ARHGEF5	PLCG1	YES	in vivo	9314836

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2291739	chr12:56420869 - 56420869(1)	downstream_gene_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	2(1/1/0)
rs11171856	chr12:56448035 - 56448035(1)	downstream_gene_variant; intron_variant	1(1/0/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 7	chr7:0-159345973	3 (0/3/0)
7q34-qter	chr7:138500000-159345973	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr7:144355288..144380632 View in gBrowse