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Aliases for ARHGEF4 Gene

Aliases for ARHGEF4 Gene

  • Rho Guanine Nucleotide Exchange Factor 4 2 3 5
  • APC-Stimulated Guanine Nucleotide Exchange Factor 1 3 4
  • Rho Guanine Nucleotide Exchange Factor (GEF) 4 2 3
  • ASEF1 3 4
  • ASEF 3 4
  • APC-Stimulated Guanine Nucleotide Exchange Factor 2
  • KIAA1112 4
  • GEF4 3
  • STM6 3

External Ids for ARHGEF4 Gene

Previous GeneCards Identifiers for ARHGEF4 Gene

  • GC02P129362
  • GC02P129196
  • GC02P131696
  • GC02P131884
  • GC02P131507
  • GC02P131390
  • GC02P131595
  • GC02P123836

Summaries for ARHGEF4 Gene

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 4) is a Protein Coding gene. Among its related pathways are Regulation of actin cytoskeleton and CREB Pathway. GO annotations related to this gene include protein domain specific binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF7.

UniProtKB/Swiss-Prot for ARHGEF4 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF4 Gene

Genomics for ARHGEF4 Gene

Regulatory Elements for ARHGEF4 Gene

Enhancers for ARHGEF4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ARHGEF4 on UCSC Golden Path with GeneCards custom track

Promoters for ARHGEF4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARHGEF4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ARHGEF4 Gene

Chromosome:
2
Start:
130,836,916 bp from pter
End:
131,047,263 bp from pter
Size:
210,348 bases
Orientation:
Plus strand

Genomic View for ARHGEF4 Gene

Genes around ARHGEF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF4 Gene

Proteins for ARHGEF4 Gene

  • Protein details for ARHGEF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR80-ARHG4_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 4
    Protein Accession:
    Q9NR80
    Secondary Accessions:
    • Q9HDC6
    • Q9UPP0

    Protein attributes for ARHGEF4 Gene

    Size:
    690 amino acids
    Molecular mass:
    79067 Da
    Quaternary structure:
    • Isoform 3 interacts with RHOA and RAC1, and (via ABR domain) with APC. Found in a complex consisting of ARHGEF4, APC and CTNNB1.
    SequenceCaution:
    • Sequence=AAF79955.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF79955.1; Type=Frameshift; Positions=638, 643; Evidence={ECO:0000305}; Sequence=BAA83064.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGEF4 Gene

    Alternative splice isoforms for ARHGEF4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGEF4 Gene

Proteomics data for ARHGEF4 Gene at MOPED

Post-translational modifications for ARHGEF4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ARHGEF4 Gene

Domains & Families for ARHGEF4 Gene

Protein Domains for ARHGEF4 Gene

Suggested Antigen Peptide Sequences for ARHGEF4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NR80

UniProtKB/Swiss-Prot:

ARHG4_HUMAN :
  • In an autoinhibited form the SH3 domain binds intramolecularly to the DH domain, thus blocking the Rac-binding site.
Domain:
  • In an autoinhibited form the SH3 domain binds intramolecularly to the DH domain, thus blocking the Rac-binding site.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with ARHGEF4: view

Function for ARHGEF4 Gene

Molecular function for ARHGEF4 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with ARHGEF4: view

Animal Models for ARHGEF4 Gene

MGI Knock Outs for ARHGEF4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGEF4 Gene

Localization for ARHGEF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF4 Gene

Isoform 3: Cytoplasm. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Associated with membrane ruffles. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARHGEF4 Gene COMPARTMENTS Subcellular localization image for ARHGEF4 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 3
chloroplast 2
cytoskeleton 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for ARHGEF4 Gene

Pathways & Interactions for ARHGEF4 Gene

genes like me logo Genes that share pathways with ARHGEF4: view

SIGNOR curated interactions for ARHGEF4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ARHGEF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0030032 lamellipodium assembly IMP 17599059
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with ARHGEF4: view

Drugs & Compounds for ARHGEF4 Gene

(3) Drugs for ARHGEF4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with ARHGEF4: view

Transcripts for ARHGEF4 Gene

Unigene Clusters for ARHGEF4 Gene

Rho guanine nucleotide exchange factor (GEF) 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF4 Gene

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:

Relevant External Links for ARHGEF4 Gene

GeneLoc Exon Structure for
ARHGEF4
ECgene alternative splicing isoforms for
ARHGEF4

Expression for ARHGEF4 Gene

mRNA expression in normal human tissues for ARHGEF4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARHGEF4 Gene

This gene is overexpressed in Brain - Cortex (x4.7).

Protein differential expression in normal tissues from HIPED for ARHGEF4 Gene

This gene is overexpressed in Tlymphocyte (48.3) and Peripheral blood mononuclear cells (17.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ARHGEF4 Gene



SOURCE GeneReport for Unigene cluster for ARHGEF4 Gene Hs.469935

mRNA Expression by UniProt/SwissProt for ARHGEF4 Gene

Q9NR80-ARHG4_HUMAN
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.
genes like me logo Genes that share expression patterns with ARHGEF4: view

Protein tissue co-expression partners for ARHGEF4 Gene

Primer Products

In Situ Assay Products

Orthologs for ARHGEF4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARHGEF4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ARHGEF4 35
  • 86.56 (n)
  • 85.88 (a)
ARHGEF4 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC483856 35
  • 85.75 (n)
  • 87.21 (a)
ARHGEF4 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgef4 35
  • 88.41 (n)
  • 93.37 (a)
Arhgef4 16
Arhgef4 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF4 35
  • 98.91 (n)
  • 98.55 (a)
ARHGEF4 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgef4 35
  • 84.48 (n)
  • 85.26 (a)
oppossum
(Monodelphis domestica)
Mammalia ARHGEF4 36
  • 22 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF4 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGEF4 35
  • 71.37 (n)
  • 69.62 (a)
ARHGEF4 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGEF4 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487089 35
  • 65.51 (n)
  • 65.03 (a)
Str.13603 35
zebrafish
(Danio rerio)
Actinopterygii arhgef4 35
  • 72.6 (n)
  • 74.62 (a)
arhgef4 36
  • 14 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC24 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7470 36
  • 30 (a)
OneToMany
Species with no ortholog for ARHGEF4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ARHGEF4 Gene

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

Paralogs for ARHGEF4 Gene

genes like me logo Genes that share paralogs with ARHGEF4: view

Variants for ARHGEF4 Gene

Sequence variations from dbSNP and Humsavar for ARHGEF4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_035970 A breast cancer sample
VAR_035971 A breast cancer sample
rs10188052 - 130,931,054(+) CCACT(C/G)ACATG intron-variant, reference, missense
rs737709 -- 130,872,934(+) CATGC(C/T)TACCT intron-variant
rs746163 -- 131,037,235(-) GGGGG(A/T)AAAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARHGEF4 Gene

Variant ID Type Subtype PubMed ID
dgv1247e1 CNV Complex 17122850
nsv7327 OTHER Inversion 18451855
esv2670824 CNV Deletion 23128226
nsv875104 CNV Loss 21882294
dgv659e201 CNV Deletion 23290073
dgv731e199 CNV Deletion 23128226
nsv524021 CNV Loss 19592680
dgv1252e1 CNV Complex 17122850
essv11772 CNV CNV 17122850
esv1708111 CNV Insertion 17803354
dgv1253e1 CNV Complex 17122850
dgv1254e1 CNV Complex 17122850
nsv428404 CNV Loss 18775914

Variation tolerance for ARHGEF4 Gene

Residual Variation Intolerance Score: 33.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.76; 83.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARHGEF4 Gene

HapMap Linkage Disequilibrium report
ARHGEF4
Human Gene Mutation Database (HGMD)
ARHGEF4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF4 Gene

Disorders for ARHGEF4 Gene

Relevant External Links for ARHGEF4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARHGEF4

No disorders were found for ARHGEF4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARHGEF4 Gene

Publications for ARHGEF4 Gene

  1. Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22. (PMID: 10873612) Thiesen S. … Nothwang H.G. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 23 67
  2. Asef mediates HGF protective effects against LPS-induced lung injury and endothelial barrier dysfunction. (PMID: 25539852) Meng F. … Birukova A.A. (Am. J. Physiol. Lung Cell Mol. Physiol. 2015) 3
  3. Hepatocyte growth factor triggers distinct mechanisms of Asef and Tiam1 activation to induce endothelial barrier enhancement. (PMID: 25101856) Higginbotham K. … Birukova A.A. (Cell. Signal. 2014) 3
  4. Association of Asef and Cdc42 expression to tubular injury in diseased human kidney. (PMID: 23941980) Cheng H.T. … Chao C.H. (J. Investig. Med. 2013) 3
  5. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. (PMID: 22543972) Dharmadhikari A.V. … Stankiewicz P. (Hum. Mol. Genet. 2012) 3

Products for ARHGEF4 Gene

Sources for ARHGEF4 Gene

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