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Aliases for ARHGEF4 Gene

Aliases for ARHGEF4 Gene

  • Rho Guanine Nucleotide Exchange Factor (GEF) 4 2 3
  • ASEF 3 4 6
  • APC-Stimulated Guanine Nucleotide Exchange Factor 1 3 4
  • ASEF1 3 4
  • APC-Stimulated Guanine Nucleotide Exchange Factor 2
  • Rho Guanine Nucleotide Exchange Factor 4 3
  • KIAA1112 4
  • GEF4 3
  • STM6 3

External Ids for ARHGEF4 Gene

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 (GEF) 4) is a Protein Coding gene. Diseases associated with ARHGEF4 include adenomatous polyposis coli. Among its related pathways are Signaling by FGFR and RhoGDI Pathway. GO annotations related to this gene include phospholipid binding and 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

Genomic Location for ARHGEF4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARHGEF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF4 Gene

Regulatory Elements 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

No Post-translational modifications

No data available for DME Specific Peptides for ARHGEF4 Gene

Domains for ARHGEF4 Gene

Gene Families for ARHGEF4 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing
  • ARHGEF :Rho guanine nucleotide exchange factors

Protein Domains for ARHGEF4 Gene

UniProtKB/Swiss-Prot:

ARHG4_HUMAN
Domain:
  • In an autoinhibited form the SH3 domain binds intramolecularly to the DH domain, thus blocking the Rac-binding site.:
    • Q9NR80
  • Contains 1 DH (DBL-homology) domain.:
    • Q9NR80
  • Contains 1 PH domain.:
    • Q9NR80
  • Contains 1 SH3 domain.:
    • Q9NR80
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.

Gene Ontology (GO) - Molecular Function for ARHGEF4 Gene

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 --
GO:0005515 protein binding IPI 17588722
GO:0019904 protein domain specific binding IPI 10947987
GO:0030676 Rac guanyl-nucleotide exchange factor activity IMP 17599059
genes like me logo Genes that share ontologies with ARHGEF4: view
genes like me logo Genes that share phenotypes with ARHGEF4: view

Animal Models for ARHGEF4 Gene

MGI Knock Outs for ARHGEF4:

miRNA for ARHGEF4 Gene

miRTarBase miRNAs that target ARHGEF4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
plasma membrane 5
cytosol 4
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ARHGEF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane --
GO:0032587 ruffle membrane IEA --
GO:0042995 cell projection --
genes like me logo Genes that share ontologies with ARHGEF4: view

Pathways for ARHGEF4 Gene

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

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 --
GO:0035556 intracellular signal transduction --
GO:0043065 positive regulation of apoptotic process TAS --
genes like me logo Genes that share ontologies with ARHGEF4: view

Compounds for ARHGEF4 Gene

(3) HMDB Compounds for ARHGEF4 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
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 (4.7).

Integrated Proteomics: protein expression 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 expressions with ARHGEF4: view

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
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF4 36
  • 98.91 (n)
  • 98.55 (a)
ARHGEF4 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARHGEF4 36
  • 86.56 (n)
  • 85.88 (a)
ARHGEF4 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGEF4 37
  • 93 (a)
OneToOne
LOC483856 36
  • 85.75 (n)
  • 87.21 (a)
mouse
(Mus musculus)
Mammalia Arhgef4 36
  • 88.41 (n)
  • 93.37 (a)
Arhgef4 16
Arhgef4 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARHGEF4 37
  • 22 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF4 37
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgef4 36
  • 84.48 (n)
  • 85.26 (a)
chicken
(Gallus gallus)
Aves ARHGEF4 36
  • 71.37 (n)
  • 69.62 (a)
ARHGEF4 37
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGEF4 37
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487089 36
  • 65.51 (n)
  • 65.03 (a)
Str.13603 36
zebrafish
(Danio rerio)
Actinopterygii arhgef4 36
  • 72.6 (n)
  • 74.62 (a)
arhgef4 37
  • 14 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC24 39
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7470 37
  • 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 MAF
rs185647 -- 130,848,145(+) ACAGG(A/G)TGGGT intron-variant
rs190627 -- 130,849,277(+) TGCAT(A/G)TTGTC intron-variant
rs272103 -- 130,835,336(+) AGTCC(A/G)GACAA upstream-variant-2KB
rs272104 -- 130,836,197(+) CTCCT(G/T)AAACC upstream-variant-2KB
rs272105 -- 130,846,484(+) CCCTC(A/C)CTCCA 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

Relevant External Links for ARHGEF4 Gene

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

Disorders for ARHGEF4 Gene

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

No data available for UniProtKB/Swiss-Prot 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
  2. 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. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 3 4
  3. Asef, a link between the tumor suppressor APC and G-protein signaling. (PMID: 10947987) Kawasaki Y. … Akiyama T. (Science 2000) 3 4
  4. Mutated APC and Asef are involved in the migration of colorectal tumour cells. (PMID: 12598901) Kawasaki Y. … Akiyama T. (Nat. Cell Biol. 2003) 3 4
  5. Identification and characterization of Asef2, a guanine-nucleotide exchange factor specific for Rac1 and Cdc42. (PMID: 17599059) Kawasaki Y. … Akiyama T. (Oncogene 2007) 3 4

Products for ARHGEF4 Gene

Sources for ARHGEF4 Gene

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