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] See more...

Aliases for ARHGEF40 Gene

Aliases for ARHGEF40 Gene

  • Rho Guanine Nucleotide Exchange Factor 40 2 3 3 4 5
  • Rho Guanine Nucleotide Exchange Factor (GEF) 40 2 3
  • Protein SOLO 3 4
  • SOLO 3 4
  • ARHGEF40 5
  • FLJ10357 2
  • Solo 2

External Ids for ARHGEF40 Gene

Previous GeneCards Identifiers for ARHGEF40 Gene

  • GC14P001659
  • GC14P021539
  • GC14P021070
  • GC14P021247
  • GC14P021302

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. Diseases associated with ARHGEF40 include Hereditary Melanoma and Arthrogryposis, Distal, Type 7. 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 PLEKHG4B.

UniProtKB/Swiss-Prot Summary for ARHGEF40 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGEF40 Gene

Genomics for ARHGEF40 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARHGEF40 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGEF40 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGEF40

Genomic Locations for ARHGEF40 Gene

Latest Assembly
chr14:21,061,276-21,090,248
(GRCh38/hg38)
Size:
28,973 bases
Orientation:
Plus strand

Previous Assembly
chr14:21,538,463-21,558,407
(GRCh37/hg19 by Entrez Gene)
Size:
19,945 bases
Orientation:
Plus strand

chr14:21,538,429-21,558,399
(GRCh37/hg19 by Ensembl)
Size:
19,971 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15753.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB84883.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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 Lys56 and Lys189
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARHGEF40 Gene

Domains & Families for ARHGEF40 Gene

Gene Families for ARHGEF40 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ARHGEF40 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • DH domain

Suggested Antigen Peptide Sequences for ARHGEF40 Gene

GenScript: Design optimal peptide antigens:
  • Protein SOLO (ARH40_HUMAN)
genes like me logo Genes that share domains with ARHGEF40: view

No data available for Graphical View of Domain Structure and 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:0005085 guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with ARHGEF40: view
genes like me logo Genes that share phenotypes with ARHGEF40: view

miRNA for ARHGEF40 Gene

miRTarBase miRNAs that target ARHGEF40

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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

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 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARHGEF40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
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:0050790 regulation of catalytic activity 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

mRNA/cDNA for ARHGEF40 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGEF40

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

Expression for ARHGEF40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGEF40 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
  • Liver(4.2)
  • Nervous system(2.8)
genes like me logo Genes that share expression patterns with ARHGEF40: view

Primer products for research

No data available for 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 29 30
  • 98.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARHGEF40 29 30
  • 88.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARHGEF40 29 30
  • 87.07 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Arhgef40 29 16 30
  • 85.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arhgef40 29
  • 84.69 (n)
Oppossum
(Monodelphis domestica)
Mammalia ARHGEF40 30
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 73 (a)
OneToMany
-- 30
  • 67 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100498627 29
  • 51.58 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1577 29
Zebrafish
(Danio rerio)
Actinopterygii ARHGEF40 30
  • 25 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG33275 30
  • 16 (a)
ManyToMany
CG30456 30
  • 16 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 32 (a)
OneToMany
Species where no ortholog for ARHGEF40 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGEF40: view image
Alliance of Genome Resources:
Additional Orthologs for ARHGEF40

Paralogs for ARHGEF40 Gene

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

  • ARH40_HUMAN
  • G3V3N2_HUMAN
  • G3V485_HUMAN
  • G3V5C1_HUMAN

Pseudogenes.org Pseudogenes for ARHGEF40 Gene

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

Variants for ARHGEF40 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGEF40 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs115192554 Benign: not provided 21,074,934(+) C/T
NM_018071.5(ARHGEF40):c.1204C>T (p.Pro402Ser)
MISSENSE_VARIANT,FIVE_PRIME_UTR
rs61734981 Benign: not provided 21,080,754(+) G/A
NM_018071.5(ARHGEF40):c.2468G>A (p.Arg823Gln)
MISSENSE
rs61739627 Benign: not provided 21,075,355(+) C/T
NM_018071.5(ARHGEF40):c.1474C>T (p.Leu492=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs61746329 Benign: not provided 21,082,340(+) G/A
NM_018071.5(ARHGEF40):c.3348G>A (p.Thr1116=)
SYNONYMOUS
rs753872972 Uncertain Significance: Malignant tumor of prostate 21,074,907(+) C/G
NM_018071.5(ARHGEF40):c.1177C>G (p.Arg393Gly)
MISSENSE_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARHGEF40 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
ARHGEF40

SNP Genotyping and Copy Number Assays for research

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

Disorders for ARHGEF40 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ARHGEF40 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hereditary melanoma
  • familial cutaneous melanoma
arthrogryposis, distal, type 7
  • da7
melanoma, cutaneous malignant 1
  • melanoma, cutaneous malignant, susceptibility to, 1
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGEF40

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

No data available for 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Systems analysis of RhoGEF and RhoGAP regulatory proteins reveals spatially organized RAC1 signalling from integrin adhesions. (PMID: 32203420) Müller PM … Rocks O (Nature cell biology 2020) 3
  5. LRRC31 inhibits DNA repair and sensitizes breast cancer brain metastasis to radiation therapy. (PMID: 33005030) Chen Y … Zhou J (Nature cell biology 2020) 3

Products for ARHGEF40 Gene

Sources for ARHGEF40 Gene