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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ARHGEF4 Gene

protein-coding GIFtS: 65
GCID: GC02P131595

Rho guanine nucleotide exchange factor (GEF) 4

Explore 8 diseases affiliated with
ARHGEF4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Rho Guanine Nucleotide Exchange Factor (GEF) 4¹ ²		ASEF1²
ASEF¹ ² ⁵		GEF4²
STM6¹ ²		Rho Guanine Nucleotide Exchange Factor 4²
KIAA1112¹ ³		Asef³
APC-Stimulated Guanine Nucleotide Exchange Factor 1² ³		Asef1³

External Ids:	HGNC: 684¹	Entrez Gene: 50649²	Ensembl: ENSG00000136002⁷	OMIM: 605216⁵	UniProtKB: Q9NR80³

Export aliases for ARHGEF4 gene to outside databases

Previous GC identifers: GC02P129362 GC02P129196 GC02P131696 GC02P131884 GC02P131507 GC02P131390 GC02P123836

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ARHGEF4:

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that

work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate

Rho-dependent signals. This protein is similar to rat collybistin protein. Alternative splicing of this gene generates

two transcript variants which encode different isoforms. Also there is possibility for the usage of multiple

polyadenylation sites for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ARHG4_HUMAN, Q9NR80

Function: Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Binding of APC may

activate RAC1 GEF activity. The APC-ARHGEF4 complex seems to be involved in cell migration as well as in

E-cadherin-mediated cell-cell adhesion. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal

tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression

Gene Wiki entry for ARHGEF4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022135.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ARHGEF4 gene promoter:
NF-1 NF-1/L AP-1 NF-kappaB HNF-4alpha1 E47 MZF-1 PPAR-gamma1 PPAR-gamma2 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ARHGEF4 promoter sequence

Search SABiosciences Chromatin IP Primers for ARHGEF4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARHGEF4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q22 Ensembl cytogenetic band: 2q21.1 HGNC cytogenetic band: 2q22

ARHGEF4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARHGEF4 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P131595: view genomic region (about GC identifiers)

Start:	131,594,489 bp from pter	End:	131,804,836 bp from pter
Size:	210,348 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ARHG4_HUMAN, Q9NR80 (See protein sequence)

Recommended Name: Rho guanine nucleotide exchange factor 4

Size: 690 amino acids; 79067 Da

Subunit: Isoform 3 interacts with RHOA and RAC1, and (via ABR domain) with APC. Found in a complex consisting of

ARHGEF4, APC and CTNNB1

Subcellular location: Isoform 3: Cytoplasm. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic

side (Probable). Note=Associated with membrane ruffles (Probable)

Sequence caution: Sequence=AAF79955.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAF79955.1; Type=Frameshift; Positions=638, 643; Sequence=BAA83064.1; Type=Erroneous initiation;

Note=Translation N-terminally shortened;

4 PDB 3D structures from and Proteopedia for ARHGEF4:

2DX1 (3D)

2PZ1 (3D)

3NMX (3D)

3NMZ (3D)

Secondary accessions: Q9HDC6 Q9UPP0

Alternative splicing: 3 isoforms: Q9NR80-1 Q9NR80-3 Q9NR80-4

Explore the universe of human proteins at neXtProt for ARHGEF4: NX_Q9NR80

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NR80

ARHGEF4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_056135.2 NP_127462.1

ENSEMBL proteins:

ENSP00000386794 ENSP00000316845 ENSP00000389661 ENSP00000432267 ENSP00000387285

ENSP00000348017 ENSP00000432301 ENSP00000398455 ENSP00000376680

Reactome Protein details: Q9NR80
Human Recombinant Protein Products for ARHGEF4:

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	Uscn Proteins for ARHGEF4

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005829	cytosol	TAS	--
GO:0032587	ruffle membrane	IEA	--

ARHGEF4 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ARHGEF4

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ARHGEF4 for domains About GeneDecksing

5 InterPro domains/families:

IPR001331 GDS_CDC24_CS

IPR000219 DH-domain

IPR001849 Pleckstrin_homology

IPR001452 SH3_domain

IPR011993 PH_like_dom

Graphical View of Domain Structure for InterPro Entry Q9NR80

ProtoNet protein and cluster: Q9NR80

3 Blocks protein families:

IPB000219 DH domain

IPB001452 SH3 domain signature

IPB001849 Pleckstrin-like

UniProtKB/Swiss-Prot: ARHG4_HUMAN, Q9NR80

Similarity: Contains 1 DH (DBL-homology) domain

Similarity: Contains 1 PH domain

Similarity: Contains 1 SH3 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ARHG4_HUMAN, Q9NR80

Function: Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Binding of APC may

activate RAC1 GEF activity. The APC-ARHGEF4 complex seems to be involved in cell migration as well as in

E-cadherin-mediated cell-cell adhesion. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal

tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005085	guanyl-nucleotide exchange factor activity	IMP	17599059
GO:0005089	Rho guanyl-nucleotide exchange factor activity	NAS	--
GO:0005515	protein binding	IPI	17588722
GO:0005543	phospholipid binding	IEA	--
GO:0019904	protein domain specific binding	IPI	10947987

ARHGEF4 for ontologies About GeneDecksing

Phenotypes:
5 GenomeRNAi human phenotypes for ARHGEF4:

Decreased G3BP1 protein expres	Decreased focal adhesion (FA)	Decreased viability	Elongated cells
Upregulation of Wnt/beta-caten

11 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Arhgef4):

adipose tissue	behavior/neurological	cardiovascular system	cellular	hematopoietic system
homeostasis/metabolism	immune system	integument	other	tumorigenesis
vision/eye

ARHGEF4 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Arhgef4^tm1Taki for ARHGEF4

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ARHGEF4

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		hsa-miR-3910 hsa-miR-136 hsa-miR-301a hsa-miR-124 hsa-miR-629* hsa-miR-149 hsa-miR-506 hsa-miR-130b

		SwitchGear 3'UTR luciferase reporter plasmid: ARHGEF4 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGEF4

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/20 super-pathways (see all 20) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell death signalling via NRAGE, NRIF and NADE

Cell death signalling via NRAGE, NRIF and NADE	1.00	G alpha (12/13) signalling events	0.39
NRAGE signals death through JNK	0.74	Rho GTPase cycle	0.25
p75 NTR receptor-mediated signalling	0.73	Signaling by Rho GTPases	0.25

GPCR Pathway

	GPCR Pathway	1.00			Breast Cancer Regulation by Stathmin1	0.58
	Ras Pathway	0.62			Pancreatic Adenocarcinoma	0.55

G-AlphaQ Signaling

	G-AlphaQ Signaling	1.00			Thrombin Signaling	0.40
	G-AlphaI Signaling	0.47

Signaling by GPCR

	Signaling by GPCR	1.00			Signal Transduction	0.56
	GPCR downstream signaling	0.89

G-protein signaling Regulation of RAC1 activity

G-protein signaling Regulation of RAC1 activity

1.00

G-protein signaling_Regulation of RAC1 activity

0.88

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for ARHGEF4

G-protein signaling Regulation of RAC1 activity

5/21 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ARHGEF4 (see all 21)

	RhoA Pathway
	Guidance Cues and Growth Cone Motility
	Molecular Mechanisms of Cancer
	Interferon Pathway
	G-AlphaI Signaling

1 GeneGo (Thomson Reuters) Pathway for ARHGEF4

G-protein signaling Regulation of RAC1 activity

2 BioSystems Pathways for ARHGEF4

	Regulation of Actin Cytoskeleton
	Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)

5/10 Reactome Pathways for ARHGEF4 (see all 10)

	GPCR downstream signaling
	Signaling by Rho GTPases
	G alpha (12/13) signalling events
	Cell death signalling via NRAGE, NRIF and NADE
	Signaling by GPCR

1 Kegg Pathway (Kegg details for ARHGEF4):

Regulation of actin cytoskeleton

ARHGEF4 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ARHGEF4

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/84 Interacting proteins for ARHGEF4 (Q9NR80^{2, 3} ENSP00000316845⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 84)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HLA-B	P01889³, ENSP00000399168⁴	I2D: score=3 STRING: ENSP00000399168
APC	P25054³, ENSP00000257430⁴	I2D: score=2 STRING: ENSP00000257430
RHOA	P61586³, ENSP00000400175⁴	I2D: score=2 STRING: ENSP00000400175
RAC1	P63000³, ENSP00000348461⁴	I2D: score=3 STRING: ENSP00000348461
NEDD8	Q15843², ENSP00000250495⁴	MINT-6542674 STRING: ENSP00000250495

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006915	apoptotic process	TAS	--
GO:0007264	small GTPase mediated signal transduction	TAS	--
GO:0030032	lamellipodium assembly	IMP	17599059
GO:0035023	regulation of Rho protein signal transduction	IEA	--
GO:0035556	intracellular signal transduction	NAS	--

ARHGEF4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ARHGEF4

3 HMDB Compounds for ARHGEF4 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--
Guanosine monophosphate	5'-GMP (see all 14)	85-32-5	--
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

Search CenterWatch for drugs/clinical trials and news about ARHGEF4 / ARHG4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ARHGEF4 gene (2 alternative transcripts):

NM_015320.2 NM_032995.1

Unigene Cluster for ARHGEF4:

Rho guanine nucleotide exchange factor (GEF) 4

Hs.469935 [show with all ESTs]

Unigene Representative Sequence: AK127124

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000526381 ENST00000409359(uc002try.1 uc002trz.1 uc010fmw.1)

ENST00000326016 ENST00000438985 ENST00000525839 ENST00000409303 ENST00000355771

ENST00000496764 ENST00000439368 ENST00000528247 ENST00000490728(uc002tsc.1)

ENST00000532720 ENST00000527365 ENST00000525092 ENST00000428230 ENST00000392953(uc002tsa.1 uc002tsb.1 uc010fmx.1)

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Additional cDNA sequence:

AB029035.1 AB042199.1 AF249745.1 AK127124.1 AL137289.1 BC036579.1 BC139742.1 DQ424905.1

8 DOTS entries:

DT.100736562 DT.452051 DT.97765665 DT.213810 DT.91843041 DT.92027570 DT.40297726 DT.91808163

24/86 AceView cDNA sequences (see all 86):

BM924000 T08962 AA636021 AI696820 AB029035 BU845201 BM998905 BM671590

Z40248 AI677831 T33534 AB042199 BF056255 CD673186 AL137289 BM710167

F04706 AK127124 BQ899269 CB049435 BQ689151 M85772 T15939 BC036579

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF4 About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17a	·	17b
SP1:											-				-				-
SP2:											-				-				-
SP3:															-				-
SP4:																			-
SP5:

ECgene alternative splicing isoforms for ARHGEF4

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ARHGEF4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACAGTCACT

About this image

ARHGEF4 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ARHGEF4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ARHGEF4

SOURCE GeneReport for Unigene cluster: Hs.469935

UniProtKB/Swiss-Prot: ARHG4_HUMAN, Q9NR80

Tissue specificity: Expressed at high levels in the brain, skeletal muscle and testis and at low levels in the kidney,

lung, small intestine, ovary and prostate. Expression is aberrantly enhanced in most colorectal tumors

SABiosciences Custom PCR Arrays for ARHGEF4

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGEF4

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ARHGEF4 gene from 5/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ARHGEF4¹	Rho guanine nucleotide exchange factor (GEF) 4	77.14(n) 80.33(a)		424761 XM_422582.3 XP_422582.2
lizard (Anolis carolinensis)	Reptilia	ARHGEF4⁶	--	78(a)	1 ↔ 1	3(37520341-37535596)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.13603²	Transcribed sequence with moderate similarity to protein more	74.55(n)		BX732986.1
zebrafish (Danio rerio)	Actinopterygii	arhgef4¹	Rho guanine nucleotide exchange factor (GEF) 4	74.05(n) 76.04(a)		559017 XM_682312.4 XP_687404.2
fruit fly (Drosophila melanogaster)	Insecta	RhoGEF3⁶	--	4(a)	1 → many	3L(277437-305292)

ENSEMBL Gene Tree for ARHGEF4 (if available)
TreeFam Gene Tree for ARHGEF4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ARHGEF4 gene

ARHGEF6² VAV1² PLEKHG2² PLEKHG3² PREX2² ARHGEF7² TIAM1² SPATA13²

TIAM2² ARHGEF9² VAV3² VAV2² PLEKHG1² PREX1²

6 SIMAP similar genes for ARHGEF4 using alignment to 8 protein entries: ARHG4_HUMAN (see all proteins):

DKFZp434G2016 SPATA13 ARHGEF9 ARHGEF7 PREX2 SH3GL2

ARHGEF4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs180741448^1,2		--	131672228(+)	`GTGAAA/CTGGGT`	2	--	int¹		0	--	--	--	--
rs77638088^1,2		--	131672231(+)	`AACTGC/GGTCGG`	2	--	int¹		0	--	--	--	--
rs6752724^1,2	C,H	--	131672271(+)	`GGCACC/TGGTGC`	2	--	int¹		14		NA WA CSA EA	377
rs57947088^1,2	C,F	--	131672292(+)	`AGGCCC/TACTGG`	2	--	int¹		1		EA	120
rs116650837^1,2		--	131672388(+)	`CCACTC/TGGATG`	2	--	int¹		1		NA	120
rs73960372^1,2	C	--	131672630(+)	`ATGAAC/TGAGAT`	2	--	int¹		1		WA	2
rs79406269^1,2	F	--	131672670(+)	`ACCCAC/TCCAGC`	2	--	int¹		1		EA	120
rs12464119^1,2	C,F,H	--	131672950(+)	`ACCCAG/ACTCGC`	2	--	int¹		12		NA WA CSA EA EU	953
rs74578239^1,2	C	--	131673059(+)	`TCAGCG/CAGGAA`	2	--	int¹		1		EA	120
rs111949406^1,2	C	--	131673201(+)	`AAGCGA/C/GAATAG`	2	--	int¹		1		CSA	1

HapMap Linkage Disequilibrium report for ARHGEF4 (131594489 - 131804836 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ARHGEF4
1 CNV: 3393
Human Gene Mutation Database (HGMD): ARHGEF4

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ARHGEF4 for disorders           About GeneDecksing

OMIM gene information: 605216    OMIM disorders: --

8 diseases for ARHGEF4:    About MalaCards

adenomatous polyposis coli familial adenomatous polyposis polyposis adenoma

prostatitis breast cancer adenocarcinoma pancreatitis

Export disorders for ARHGEF4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ARHGEF4 gene, integrated from 9 sources (see all 24):
(articles sorted by number of sources associating them with ARHGEF4)

Utopia: connect your pdf to the dynamic
world of online information

Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22. (PubMed id 10873612)^{1, 2, 3, 9} Thiesen S.... Nothwang H.G. (2000)
Identification and characterization of Asef2, a guanine-nucleotide exchange factor specific for Rac1 and Cdc42. (PubMed id 17599059)^{1, 2} Kawasaki Y....Akiyama T. (2007)
Mutated APC and Asef are involved in the migration of colorectal tumour cells. (PubMed id 12598901)^{1, 2} Kawasaki Y.... Akiyama T. (2003)
Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)^{1, 2} Nakajima D.... Nagase T. (2002)
Asef, a link between the tumor suppressor APC and G-protein signaling. (PubMed id 10947987)^{1, 2} Kawasaki Y.... Akiyama T. (2000)
Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)^{1, 2} Kikuno R....Ohara O. (1999)
Comprehensive analysis of interactions between the Src -associated protein in mitosis of 68 kDa and the human Src-homology 3 proteome. (PubMed id 22745667)¹ Asbach B....Wagner R. (2012)
Structural basis for the recognition of Asef by adenom atous polyposis coli. (PubMed id 21788986)¹ Zhang Z....Wu G. (2012)
A human MAP kinase interactome. (PubMed id 20936779)¹ Bandyopadhyay S....Ideker T. (2010)
The RAC specific guanine nucleotide exchange factor A sef functions downstream from TEL-AML1 to promote leukaemic transformation. (PubMed id 19628279)¹ Lyons R....Anderson J. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 50649	HGNC: 684	AceView: ARHGEF4	Ensembl:ENSG00000136002	euGenes: HUgn50649
ECgene: ARHGEF4	Kegg: 50649	H-InvDB: ARHGEF4

(According to HUGE)
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HUGE: KIAA1112

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ARHGEF4	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ARHGEF4	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for ARHGEF4 gene
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Patent Information for ARHGEF4 gene:
Search GeneIP for patents involving ARHGEF4

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Rho guanine nucleotide exchange factor (GEF) 4

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Rho guanine nucleotide exchange factor (GEF) 4

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