Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ARHGEF40 Gene

Aliases for ARHGEF40 Gene

  • Rho Guanine Nucleotide Exchange Factor 40 2 3 5
  • Rho Guanine Nucleotide Exchange Factor (GEF) 40 2 3
  • Protein SOLO 3 4
  • SOLO 3 4

External Ids for ARHGEF40 Gene

Previous GeneCards Identifiers for ARHGEF40 Gene

  • GC14P001659
  • GC14P021539

Summaries for ARHGEF40 Gene

Entrez Gene Summary for ARHGEF40 Gene

  • This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]

GeneCards Summary for ARHGEF40 Gene

ARHGEF40 (Rho Guanine Nucleotide Exchange Factor 40) is a Protein Coding gene. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is TRIO.

UniProtKB/Swiss-Prot for ARHGEF40 Gene

  • May act as a guanine nucleotide exchange factor (GEF).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF40 Gene

Genomics for ARHGEF40 Gene

Regulatory Elements for ARHGEF40 Gene

Enhancers for ARHGEF40 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 ARHGEF40 on UCSC Golden Path with GeneCards custom track

Promoters for ARHGEF40 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARHGEF40 on UCSC Golden Path with GeneCards custom track

Genomic Location for ARHGEF40 Gene

21,070,226 bp from pter
21,090,248 bp from pter
20,023 bases
Plus strand

Genomic View for ARHGEF40 Gene

Genes around ARHGEF40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF40 Gene

Proteins for ARHGEF40 Gene

  • Protein details for ARHGEF40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Rho guanine nucleotide exchange factor 40
    Protein Accession:
    Secondary Accessions:
    • A5PL07
    • Q9BWP5
    • Q9H7L6
    • Q9NTF9
    • Q9NW24

    Protein attributes for ARHGEF40 Gene

    1519 amino acids
    Molecular mass:
    164658 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA91563.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15753.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB84883.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARHGEF40 Gene


neXtProt entry for ARHGEF40 Gene

Proteomics data for ARHGEF40 Gene at MOPED

Post-translational modifications for ARHGEF40 Gene

  • Ubiquitination at Lys 56 and Lys 189
  • Modification sites at PhosphoSitePlus

Other Protein References for ARHGEF40 Gene

No data available for DME Specific Peptides for ARHGEF40 Gene

Domains & Families for ARHGEF40 Gene

Gene Families for ARHGEF40 Gene

Protein Domains for ARHGEF40 Gene

Suggested Antigen Peptide Sequences for ARHGEF40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
genes like me logo Genes that share domains with ARHGEF40: view

Function for ARHGEF40 Gene

Molecular function for ARHGEF40 Gene

UniProtKB/Swiss-Prot Function:
May act as a guanine nucleotide exchange factor (GEF).

Gene Ontology (GO) - Molecular Function for ARHGEF40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with ARHGEF40: view

Phenotypes for ARHGEF40 Gene

GenomeRNAi human phenotypes for ARHGEF40:
genes like me logo Genes that share phenotypes with ARHGEF40: view

Animal Model Products

CRISPR Products

miRNA for ARHGEF40 Gene

miRTarBase miRNAs that target ARHGEF40

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGEF40 Gene

Localization for ARHGEF40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF40 Gene

Cytoplasm. Note=Concentrated in the perinuclear region.

Subcellular locations from

Jensen Localization Image for ARHGEF40 Gene COMPARTMENTS Subcellular localization image for ARHGEF40 gene
Compartment Confidence
nucleus 4
cytosol 2
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for ARHGEF40 Gene

Pathways & Interactions for ARHGEF40 Gene

SuperPathways for ARHGEF40 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ARHGEF40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ARHGEF40: view

No data available for Pathways by source and SIGNOR curated interactions for ARHGEF40 Gene

Drugs & Compounds for ARHGEF40 Gene

No Compound Related Data Available

Transcripts for ARHGEF40 Gene

Unigene Clusters for ARHGEF40 Gene

Rho guanine nucleotide exchange factor (GEF) 40:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF40 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a ·
SP1: - - - - - -
SP2: -
SP3: -

ExUns: 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b
SP2: - -
SP3: - - -
SP4: -

Relevant External Links for ARHGEF40 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ARHGEF40 Gene

mRNA expression in normal human tissues for ARHGEF40 Gene

Protein differential expression in normal tissues from HIPED for ARHGEF40 Gene

This gene is overexpressed in Lung (16.3), Bone (14.3), and Adrenal (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ARHGEF40 Gene

SOURCE GeneReport for Unigene cluster for ARHGEF40 Gene Hs.35125

mRNA Expression by UniProt/SwissProt for ARHGEF40 Gene

Tissue specificity: Expressed at higher level in the central nervous system and skeletal muscle and greater abundance in fetal than adult brain (at protein level).
genes like me logo Genes that share expression patterns with ARHGEF40: view

Protein tissue co-expression partners for ARHGEF40 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ARHGEF40 Gene

Orthologs for ARHGEF40 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGEF40 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ARHGEF40 35
  • 88.68 (n)
  • 89.85 (a)
  • 90 (a)
(Canis familiaris)
Mammalia ARHGEF40 35
  • 87.07 (n)
  • 88.06 (a)
  • 82 (a)
(Mus musculus)
Mammalia Arhgef40 35
  • 85.01 (n)
  • 86.59 (a)
Arhgef40 16
Arhgef40 36
  • 86 (a)
(Pan troglodytes)
Mammalia ARHGEF40 35
  • 98.38 (n)
  • 97.53 (a)
  • 98 (a)
(Rattus norvegicus)
Mammalia Arhgef40 35
  • 84.69 (n)
  • 86.38 (a)
(Monodelphis domestica)
Mammalia ARHGEF40 36
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 73 (a)
-- 36
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498627 35
  • 51.58 (n)
  • 45.35 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1577 35
(Danio rerio)
Actinopterygii ARHGEF40 36
  • 25 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG30456 36
  • 16 (a)
CG33275 36
  • 16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
Species with no ortholog for ARHGEF40:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 ARHGEF40 Gene

Gene Tree for ARHGEF40 (if available)
Gene Tree for ARHGEF40 (if available)

Paralogs for ARHGEF40 Gene

Paralogs for ARHGEF40 Gene

(1) SIMAP similar genes for ARHGEF40 Gene using alignment to 4 proteins: Pseudogenes for ARHGEF40 Gene

genes like me logo Genes that share paralogs with ARHGEF40: view

Variants for ARHGEF40 Gene

Sequence variations from dbSNP and Humsavar for ARHGEF40 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs7143633 - 21,081,734(+) AACAC(A/C/G)TGGGA downstream-variant-500B, reference, missense
rs1958396 - 21,082,910(+) TCCCT(C/T)AAGCA reference, missense
rs943992 - 21,084,898(+) AGAGA(C/T)GTTTG reference, missense
rs17855344 - 21,087,328(+) CCCGC(A/C)CCCGG intron-variant, reference, missense
rs7140850 -- 21,075,897(+) TCAAG(C/T)CATTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARHGEF40 Gene

Variant ID Type Subtype PubMed ID
nsv832740 CNV Gain 17160897
nsv826882 CNV Gain 20364138
dgv123n21 CNV Loss 19592680

Variation tolerance for ARHGEF40 Gene

Residual Variation Intolerance Score: 14.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.58; 82.53% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ARHGEF40 Gene

Disorders for ARHGEF40 Gene

Relevant External Links for ARHGEF40

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for ARHGEF40 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARHGEF40 Gene

Publications for ARHGEF40 Gene

  1. Identification, expression analysis, genomic organization and cellular location of a novel protein with a RhoGEF domain. (PMID: 16143467) Tse S.-W. … Andreadis A. (Gene 2005) 2 3 4 23 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. RSPO-LGR4 functions via IQGAP1 to potentiate Wnt signaling. (PMID: 24639526) Carmon K.S. … Liu Q. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3

Products for ARHGEF40 Gene

Sources for ARHGEF40 Gene