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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. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG4.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F021068 0.7 FANTOM5 ENCODE 29.4 +0.8 819 5.0 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF48 ETS1 GLIS2 ZNF143 FOS ARHGEF40 METTL3 SALL2 ENSG00000258515 SUPT16H TMEM253 ZNF219 TTC5 RAB2B CHD8
GH14F021086 0.7 Ensembl ENCODE 20.4 +17.8 17763 2.8 ATF1 ARID4B SIN3A ZNF2 ZNF48 YY1 ZNF121 ZNF207 ZMIZ1 FOS ARHGEF40 PIR44581 NDRG2 MIR6717
GH14F021060 0.7 ENCODE 14.4 -9.3 -9262 1.2 ATF1 MLX CREB3L1 ARID4B DMAP1 YY1 GATA2 SP5 MXD4 ZHX2 ARHGEF40 RNASE8
GH14F021089 1.6 FANTOM5 Ensembl ENCODE 12.1 +29.9 29887 21.0 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC SUPT16H CHD8 ENSG00000258515 METTL3 TMEM55B ENSG00000258768 OSGEP RAB2B TTC5 RNASE4
GH14F021041 0.9 Ensembl ENCODE 11.5 -27.1 -27065 4.0 PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 METTL3 RNASE4 ENSG00000222489 PARP2 CHD8 SUPT16H TMEM55B APEX1 ARHGEF40 MIR6717
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000179968 174 3601 HDGF ARID4B SIN3A DMAP1 ZNF48 GLIS2 ZNF143 FOS KLF7 ZNF263

Genomic Location for ARHGEF40 Gene

Chromosome:
14
Start:
21,070,226 bp from pter
End:
21,090,248 bp from pter
Size:
20,023 bases
Orientation:
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:
    Q8TER5-ARH40_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 40
    Protein Accession:
    Q8TER5
    Secondary Accessions:
    • A5PL07
    • Q9BWP5
    • Q9H7L6
    • Q9NTF9
    • Q9NW24

    Protein attributes for ARHGEF40 Gene

    Size:
    1519 amino acids
    Molecular mass:
    164658 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGEF40 Gene

Post-translational modifications for ARHGEF40 Gene

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

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

Q8TER5

UniProtKB/Swiss-Prot:

ARH40_HUMAN :
  • Contains 1 DH (DBL-homology) domain.
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

miRNA for ARHGEF40 Gene

miRTarBase miRNAs that target ARHGEF40

Inhibitory RNA Products

Flow Cytometry Products

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

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

Gene Ontology (GO) - Cellular Components for ARHGEF40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ARHGEF40: view

Pathways & Interactions for ARHGEF40 Gene

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

Gene Ontology (GO) - Biological Process for ARHGEF40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ARHGEF40: view

No data available for SIGNOR curated interactions for ARHGEF40 Gene

Transcripts for ARHGEF40 Gene

Unigene Clusters for ARHGEF40 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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: -
SP4:
SP5:
SP6:
SP7:

ExUns: 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b
SP1:
SP2: - -
SP3: - - -
SP4: -
SP5:
SP6:
SP7:

Relevant External Links for ARHGEF40 Gene

GeneLoc Exon Structure for
ARHGEF40
ECgene alternative splicing isoforms for
ARHGEF40

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, MaxQB, and MOPED for ARHGEF40 Gene



Protein tissue co-expression partners for ARHGEF40 Gene

NURSA nuclear receptor signaling pathways regulating expression of ARHGEF40 Gene:

ARHGEF40

SOURCE GeneReport for Unigene cluster for ARHGEF40 Gene:

Hs.35125

mRNA Expression by UniProt/SwissProt for ARHGEF40 Gene:

Q8TER5-ARH40_HUMAN
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

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
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF40 34 35
  • 98.38 (n)
cow
(Bos Taurus)
Mammalia ARHGEF40 34 35
  • 88.68 (n)
dog
(Canis familiaris)
Mammalia ARHGEF40 34 35
  • 87.07 (n)
mouse
(Mus musculus)
Mammalia Arhgef40 34 16 35
  • 85.01 (n)
rat
(Rattus norvegicus)
Mammalia Arhgef40 34
  • 84.69 (n)
oppossum
(Monodelphis domestica)
Mammalia ARHGEF40 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 73 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498627 34
  • 51.58 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1577 34
zebrafish
(Danio rerio)
Actinopterygii ARHGEF40 35
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30456 35
  • 16 (a)
ManyToMany
CG33275 35
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
OneToMany
Species where no ortholog for ARHGEF40 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for ARHGEF40 (if available)
TreeFam:
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.org 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
rs753872972 Uncertain significance 21,074,907(+) TTAGC(A/C)GAGGA upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime
rs10142010 -- 21,063,043(+) GAGGA(C/T)TGCTT intron-variant
rs10143954 -- 21,068,100(+) gttca(C/G)gccat intron-variant
rs10146334 -- 21,081,495(+) AACCC(C/T)TTTGA intron-variant, utr-variant-3-prime
rs10151973 -- 21,066,320(+) TGttt(C/T)ttttg intron-variant

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

Variant ID Type Subtype PubMed ID
dgv123n21 CNV loss 19592680
nsv826882 CNV gain 20364138
nsv832740 CNV gain 17160897

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)

Relevant External Links for ARHGEF40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGEF40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF40 Gene

Disorders for ARHGEF40 Gene

Relevant External Links for ARHGEF40

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARHGEF40

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 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. 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 64
  4. 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 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for ARHGEF40 Gene

Sources for ARHGEF40 Gene

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