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ARHGEF4 Gene

protein-coding   GIFtS: 64
GCID: GC02P131595

Rho Guanine Nucleotide Exchange Factor (GEF) 4

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Rho Guanine Nucleotide Exchange Factor (GEF) 41 2     STM62
APC-Stimulated Guanine Nucleotide Exchange Factor 12 3     Rho Guanine Nucleotide Exchange Factor 42
ASEF2 5     Asef3
APC-Stimulated Guanine Nucleotide Exchange Factor1     Asef13
ASEF12     KIAA11123
GEF42     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ARHGEF4 Gene:
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli
that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins
and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different
isoforms have been found, but the full-length nature of some variants has not been determined. (provided by
RefSeq, Jun 2013)

GeneCards Summary for ARHGEF4 Gene:
ARHGEF4 (Rho guanine nucleotide exchange factor (GEF) 4) is a protein-coding gene. Diseases associated with ARHGEF4 include familial adenomatous polyposis, and breast and colorectal cancer. GO annotations related to this gene include phospholipid binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF6.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   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 plasmidARHGEF4 promoter sequence
   Search Chromatin IP Primers for ARHGEF4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for ARHGEF4 at MOPED


See ARHGEF4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
PLEKH: Pleckstrin homology (PH) domain containing
ARHGEF: Rho guanine nucleotide exchange factors

5 InterPro protein domains:
 IPR000219 DH-domain
 IPR001849 Pleckstrin_homology
 IPR001452 SH3_domain
 IPR011993 PH_like_dom
 IPR001331 GDS_CDC24_CS

Graphical View of Domain Structure for InterPro Entry Q9NR80

ProtoNet protein and cluster: Q9NR80

3 Blocks protein domains:
IPB000219 DH domain
IPB001452 SH3 domain signature
IPB001849 Pleckstrin-like


UniProtKB/Swiss-Prot: ARHG4_HUMAN, Q9NR80
Domain: In an autoinhibited form the SH3 domain binds intramolecularly to the DH domain, thus blocking the
Rac-binding site (PubMed:17190834)
Similarity: Contains 1 DH (DBL-homology) domain
Similarity: Contains 1 PH domain
Similarity: Contains 1 SH3 domain


ARHGEF4 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005085guanyl-nucleotide exchange factor activity IMP17599059
GO:0005089Rho guanyl-nucleotide exchange factor activity ----
GO:0005515protein binding IPI17588722
GO:0019904protein domain specific binding IPI10947987
GO:0030676Rac guanyl-nucleotide exchange factor activity IMP17599059
     
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 

     12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Arhgef4):
 adipose tissue  behavior/neurological  cardiovascular system  cellular  growth/size/body 
 hematopoietic system  homeostasis/metabolism  immune system  integument  other 
 tumorigenesis  vision/eye 

ARHGEF4 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Arhgef4tm1Taki for ARHGEF4

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miRNA
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miRTarBase miRNAs that target ARHGEF4:
hsa-mir-335-5p (MIRT016987)

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Selected qRT-PCR Assays for microRNAs that regulate ARHGEF4 (see all 24):
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 plasmidARHGEF4 3' UTR sequence
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGEF4


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
ARHG4_HUMAN, Q9NR80: Isoform 3: Cytoplasm. Cell projection, ruffle membrane; Peripheral membrane protein;
Cytoplasmic side (Probable). Note=Associated with membrane ruffles (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane5
cytosol4
nucleus3
mitochondrion1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005829cytosol TAS--
GO:0032587ruffle membrane IEA--

ARHGEF4 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for ARHGEF4 About   (see all 21)  
See pathways by source

SuperPathContained pathways About
1Regulation of actin cytoskeleton
Regulation of actin cytoskeleton0.57
Regulation of Actin Cytoskeleton0.57
2p75 NTR receptor-mediated signalling
p75 NTR receptor-mediated signalling0.74
NRAGE signals death through JNK0.71
Cell death signalling via NRAGE, NRIF and NADE0.74
G alpha (12/13) signalling events0.44
3GPCR Pathway
Ras Pathway0.73
Pancreatic Adenocarcinoma0.59
GPCR Pathway0.62
Breast Cancer Regulation by Stathmin10.58
4Signaling by GPCR
Signaling by GPCR0.90
Signal Transduction0.58
GPCR downstream signaling0.90
5G-AlphaQ Signaling
G-AlphaQ Signaling0.47
Thrombin Signaling0.40
G-AlphaI Signaling0.47

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

Selected Downloadable PowerPoint Slides of GeneGlobe 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)

3 Reactome Pathways for ARHGEF4
    G alpha (12/13) signalling events
NRAGE signals death through JNK
Rho GTPase cycle


1 Kegg Pathway  (Kegg details for ARHGEF4):
    Regulation of actin cytoskeleton


ARHGEF4 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARHGEF4
Interactions:

    GeneGlobe Interaction Network for ARHGEF4

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for ARHGEF4 (Q9NR802, 3 ENSP000003168454) via UniProtKB, MINT, STRING, and/or I2D (see all 140)
InteractantInteraction Details
GeneCardExternal ID(s)
HLA-BP018893, ENSP000003991684I2D: score=3 STRING: ENSP00000399168
APCP250543, ENSP000002574304I2D: score=2 STRING: ENSP00000257430
RHOAP615863, ENSP000004001754I2D: score=2 STRING: ENSP00000400175
RAC1P630003, ENSP000003484614I2D: score=3 STRING: ENSP00000348461
NEDD8Q158432, ENSP000002504954MINT-6542674 STRING: ENSP00000250495
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Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007264small GTPase mediated signal transduction TAS--
GO:0030032lamellipodium assembly IMP17599059
GO:0032314regulation of Rac GTPase activity IMP17599059
GO:0035023regulation of Rho protein signal transduction ----
GO:0035556intracellular signal transduction ----

ARHGEF4 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for ARHGEF4 (ARHG4)

3 HMDB Compounds for ARHGEF4    About this table
CompoundSynonyms CAS #PubMed Ids
Guanosine diphosphate5'-GDP (see all 10)146-91-8--
Guanosine monophosphate5'-GMP (see all 14)85-32-5--
Guanosine triphosphate5'-GTP (see all 10)86-01-1--



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ARHGEF4 gene (2 alternative transcripts): 
NM_015320.3  NM_032995.2  

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 mRNA 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 

Selected AceView cDNA sequences (see all 86):

BM924000 AA636021 T08962 F04706 BM710167 AL137289 CD673186 BF056255 
T33534 AI696820 AI677831 AB042199 Z40248 BM671590 BU845201 BM998905 
AB029035 AK127124 T15412 AI634119 BQ689151 R38781 AW167377 NM_032995 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ARHGEF4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GACAGTCACT
ARHGEF4 Expression
About this image


ARHGEF4 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Brain (Nervous System)
         Cerebral Cortex
ARHGEF4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ARHGEF4 Protein Expression

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

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In Situ
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(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)
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This gene was present in the common ancestor of chordates.

Orthologs for ARHGEF4 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Arhgef41 , 5 Rho guanine nucleotide exchange factor (GEF) 41, 5 88.41(n)1
93.37(a)1
  1 (13.34 cM)5
2269701  NM_183019.21  NP_898840.21 
 346781885 
chicken
(Gallus gallus)
Aves ARHGEF41 Rho guanine nucleotide exchange factor (GEF) 4 71.37(n)
69.62(a)
  424761  XM_004936966.1  XP_004937023.1 
lizard
(Anolis carolinensis)
Reptilia ARHGEF46
Rho guanine nucleotide exchange factor (GEF) 4
75(a)
1 ↔ 1
3(37520341-37741634)
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 72.6(n)
74.62(a)
  559017  XM_682312.5  XP_687404.3 


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  PLEKHG22  PLEKHG32  PREX22  ENSG000002731672  ARHGEF72  TIAM12  SPATA132  
TIAM22  ARHGEF92  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, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ARHGEF4 (see all 2683)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0359714
A breast cancer sample4--see VAR_0359712 T R mis40--------
VAR_0359704
A breast cancer sample4--see VAR_0359702 K R mis40--------
rs1807414481,2
--131672228(+) GTGAAA/CTGGGT 2 -- int10--------
rs776380881,2
--131672231(+) AACTGC/GGTCGG 2 -- int10--------
rs67527241,2
C,H--131672271(+) GGCACC/TGGTGC 2 -- int114Minor allele frequency- T:0.00NA WA CSA EA 377
rs579470881,2
C,F--131672292(+) AGGCCC/TACTGG 2 -- int11Minor allele frequency- T:0.03EA 120
rs1166508371,2
C,F--131672388(+) CCACTC/TGGATG 2 -- int11Minor allele frequency- T:0.01NA 120
rs739603721,2
C,F--131672630(+) ATGAAC/TGAGAT 2 -- int11Minor allele frequency- T:0.50WA 2
rs794062691,2
F--131672670(+) ACCCAC/TCCAGC 2 -- int11Minor allele frequency- T:0.02EA 120
rs124641191,2
C,F,H--131672950(+) ACCCAG/ACTCGC 2 -- int112Minor allele frequency- A:0.40NA WA CSA EA EU 953

HapMap Linkage Disequilibrium report for ARHGEF4 (131594489 - 131804836 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for ARHGEF4 (see all 13):    About this table    
Variant IDTypeSubtypePubMed ID
esv2670824CNV Deletion23128226
dgv659e201CNV Deletion23290073
dgv731e199CNV Deletion23128226
esv1708111CNV Insertion17803354
nsv428404CNV Loss18775914
nsv875104CNV Loss21882294
nsv524021CNV Loss19592680
essv11772CNV CNV17122850
dgv1247e1CNV Complex17122850
dgv1253e1CNV Complex17122850

Human Gene Mutation Database (HGMD): ARHGEF4
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ARHGEF4
DNA2.0 Custom Variant and Variant Library Synthesis for ARHGEF4

(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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OMIM gene information: 605216    OMIM disorders: --

8 diseases for ARHGEF4:    
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familial adenomatous polyposis    breast and colorectal cancer    adenoma    adenocarcinoma
pancreatitis    colorectal cancer    prostatitis    breast cancer


ARHGEF4 for disorders           About GeneDecksing


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 10 sources (see all 26):
(articles sorted by number of sources associating them with ARHGEF4)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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. (Biochem. Biophys. Res. Commun. 2000)
  2. Identification and characterization of Asef2, a guanine-nucleotide exchange factor specific for Rac1 and Cdc42. (PubMed id 17599059)1, 2 Kawasaki Y....Akiyama T. (Oncogene 2007)
  3. Mutated APC and Asef are involved in the migration of colorectal tumour cells. (PubMed id 12598901)1, 2 Kawasaki Y.... Akiyama T. (Nat. Cell Biol. 2003)
  4. 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. (DNA Res. 2002)
  5. Asef, a link between the tumor suppressor APC and G-protein signaling. (PubMed id 10947987)1, 2 Kawasaki Y.... Akiyama T. (Science 2000)
  6. 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. (DNA Res. 1999)
  7. 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. (PLoS ONE 2012)
  8. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. (PubMed id 22543972)1 Dharmadhikari A.V....Stankiewicz P. (Hum. Mol. Genet. 2012)
  9. Structural basis for the recognition of Asef by adenomatous polyposis coli. (PubMed id 21788986)1 Zhang Z....Wu G. (Cell Res. 2012)
  10. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (Nat. Methods 2010)

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

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ARHGEF4 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ARHGEF4 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ARHGEF4 gene:
Search GeneIP for patents involving ARHGEF4

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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