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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 p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (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).

Additional gene information for ARHGEF40 Gene

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

Genomics for ARHGEF40 Gene

GeneHancer (GH) Regulatory Elements for ARHGEF40 Gene

Promoters and enhancers for ARHGEF40 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I021068 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 579.4 +0.8 819 5 HDGF ARID4B SIN3A DMAP1 ZBTB7B ZNF213 E2F8 ZNF143 FOS PAF1 ARHGEF40 NDRG2 TMEM253 ZNF219 RNASE7 TPPP2 RNASE13 ENSG00000255472 RNASE6 TOX4
GH14I021092 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.1 +31.2 31200 18.3 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 TMEM253 ZNF219 METTL3 METTL17 SUPT16H CHD8 TEP1 APEX1 PNP ARHGEF40
GH14I021086 Enhancer 1.1 Ensembl ENCODE dbSUPER 20.4 +17.8 17763 2.8 MXI1 FOXA2 JUN MAX SIN3A BMI1 CTBP1 POLR2A SCRT2 FOS ARHGEF40 PIR44581 NDRG2
GH14I021060 Enhancer 0.9 ENCODE dbSUPER 14.4 -9.3 -9261 1.2 CEBPG YY1 ZFHX2 POLR2A NR2F6 THAP11 EGR2 HLF CEBPB ELF1 ARHGEF40 RNASE8 NDRG2
GH14I021014 Enhancer 1.1 Ensembl ENCODE 11.3 -54.9 -54919 1.6 PKNOX1 FOXA2 ARID4B SIN3A IRF4 ARID2 ZNF143 DEK RXRA NCOA1 RNASE7 ARHGEF40 NDRG2 ZNF219 METTL17 TMEM253 GC14M021020 GC14P021091
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARHGEF40 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ARHGEF40 Gene

Genomic Locations for ARHGEF40 Gene
chr14:21,070,226-21,090,248
(GRCh38/hg38)
Size:
20,023 bases
Orientation:
Plus strand
chr14:21,538,429-21,558,399
(GRCh37/hg19)

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 posLast=5656 and posLast=189189

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

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

No data available for UniProtKB/Swiss-Prot for ARHGEF40 Gene

Function for ARHGEF40 Gene

Molecular function for ARHGEF40 Gene

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

Phenotypes From GWAS Catalog for ARHGEF40 Gene

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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARHGEF40 Gene

Pathways & Interactions for ARHGEF40 Gene

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

Interacting Proteins for ARHGEF40 Gene

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:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with ARHGEF40: view

No data available for 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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).

Evidence on tissue expression from TISSUES for ARHGEF40 Gene

  • Spleen(4.3)
  • Kidney(4.2)
  • Liver(4.2)
  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with ARHGEF40: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 98.38 (n)
cow
(Bos Taurus)
Mammalia ARHGEF40 33 34
  • 88.68 (n)
dog
(Canis familiaris)
Mammalia ARHGEF40 33 34
  • 87.07 (n)
mouse
(Mus musculus)
Mammalia Arhgef40 33 16 34
  • 85.01 (n)
rat
(Rattus norvegicus)
Mammalia Arhgef40 33
  • 84.69 (n)
oppossum
(Monodelphis domestica)
Mammalia ARHGEF40 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 73 (a)
OneToMany
-- 34
  • 67 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498627 33
  • 51.58 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1577 33
zebrafish
(Danio rerio)
Actinopterygii ARHGEF40 34
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30456 34
  • 16 (a)
ManyToMany
CG33275 34
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs753872972 uncertain-significance, Malignant tumor of prostate 21,074,907(+) C/A/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, synonymous_variant, upstream_transcript_variant
rs1000201074 -- 21,084,998(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000226191 -- 21,076,328(+) A/G 5_prime_UTR_variant, intron_variant
rs1000324285 -- 21,066,019(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000332570 -- 21,083,054(+) G/C genic_downstream_transcript_variant, 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)

Additional Variant Information 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

Additional Disease Information for 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 SW … Andreadis A (Gene 2005) 2 3 4 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal KB … Olsen JV (Science signaling 2015) 3 58
  5. RSPO-LGR4 functions via IQGAP1 to potentiate Wnt signaling. (PMID: 24639526) Carmon KS … Liu Q (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 58

Products for ARHGEF40 Gene

Sources for ARHGEF40 Gene

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