Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encod... See more...

Aliases for ARHGEF25 Gene

Aliases for ARHGEF25 Gene

  • Rho Guanine Nucleotide Exchange Factor 25 2 3 3 4 5
  • P63RhoGEF 2 3 4
  • GEFT 2 3 4
  • RhoA/Rac/Cdc42 Guanine Nucleotide Exchange Factor GEFT 3 4
  • Rho Guanine Nucleotide Exchange Factor (GEF) 25 2 3
  • Guanine Nucleotide Exchange Factor GEFT 3 4
  • Rac/Cdc42/Rho Exchange Factor GEFT 3 4
  • RAC/CDC42 Exchange Factor 2 3
  • RhoA/RAC/CDC42 Exchange Factor 3
  • ARHGEF25 5

External Ids for ARHGEF25 Gene

Previous GeneCards Identifiers for ARHGEF25 Gene

  • GC12P055041
  • GC12P058004

Summaries for ARHGEF25 Gene

Entrez Gene Summary for ARHGEF25 Gene

  • Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for ARHGEF25 Gene

ARHGEF25 (Rho Guanine Nucleotide Exchange Factor 25) is a Protein Coding gene. Diseases associated with ARHGEF25 include Moyamoya Angiopathy and Atrophic Rhinitis. Among its related pathways are Signaling by GPCR and Regulation of RAC1 activity. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is TRIO.

UniProtKB/Swiss-Prot Summary for ARHGEF25 Gene

  • May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. It works as a guanine nucleotide exchange factor for Rho family of small GTPases. Links specifically G alpha q/11-coupled receptors to RHOA activation. May be an important regulator of processes involved in axon and dendrite formation. In neurons seems to be an exchange factor primarily for RAC1. Involved in skeletal myogenesis (By similarity).

Gene Wiki entry for ARHGEF25 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGEF25 Gene

Genomics for ARHGEF25 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARHGEF25 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 ARHGEF25 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGEF25

Genomic Locations for ARHGEF25 Gene

Latest Assembly
chr12:57,610,116-57,617,245
(GRCh38/hg38)
Size:
7,130 bases
Orientation:
Plus strand

Previous Assembly
chr12:58,003,899-58,011,028
(GRCh37/hg19 by Entrez Gene)
Size:
7,130 bases
Orientation:
Plus strand

chr12:58,003,963-58,013,162
(GRCh37/hg19 by Ensembl)
Size:
9,200 bases
Orientation:
Plus strand

Genomic View for ARHGEF25 Gene

Genes around ARHGEF25 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF25 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF25 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF25 Gene

Proteins for ARHGEF25 Gene

  • Protein details for ARHGEF25 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VW2-ARHGP_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 25
    Protein Accession:
    Q86VW2
    Secondary Accessions:
    • A6NJH5
    • A9CQZ6
    • F8W7Z4
    • Q8WV84
    • Q96E63

    Protein attributes for ARHGEF25 Gene

    Size:
    580 amino acids
    Molecular mass:
    63843 Da
    Quaternary structure:
    • Interacts (via the DH domain) with BVES (via the C-terminus cytoplasmic tail) (By similarity). Interacts with activated GNAQ and GNA11. Interacts with RHOA, CDC42 and RAC1.

    Three dimensional structures from OCA and Proteopedia for ARHGEF25 Gene

    Alternative splice isoforms for ARHGEF25 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGEF25 Gene

Post-translational modifications for ARHGEF25 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARHGEF25 Gene

No data available for DME Specific Peptides for ARHGEF25 Gene

Domains & Families for ARHGEF25 Gene

Gene Families for ARHGEF25 Gene

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

Protein Domains for ARHGEF25 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • DH domain

Suggested Antigen Peptide Sequences for ARHGEF25 Gene

GenScript: Design optimal peptide antigens:
  • RAC/CDC42/Rho exchange factor (A9CQZ6_HUMAN)
  • p63RhoGEF (ARHGP_HUMAN)
  • cDNA FLJ32854 fis, clone TESTI2003498, moderately similar to TRIPLE FUNCTIONAL DOMAIN PROTEIN (Q96M35_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86VW2

UniProtKB/Swiss-Prot:

ARHGP_HUMAN :
  • The guanine nucleotide exchange activity is autoinhibited by the PH domain.
Domain:
  • The guanine nucleotide exchange activity is autoinhibited by the PH domain.
genes like me logo Genes that share domains with ARHGEF25: view

Function for ARHGEF25 Gene

Molecular function for ARHGEF25 Gene

UniProtKB/Swiss-Prot Function:
May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. It works as a guanine nucleotide exchange factor for Rho family of small GTPases. Links specifically G alpha q/11-coupled receptors to RHOA activation. May be an important regulator of processes involved in axon and dendrite formation. In neurons seems to be an exchange factor primarily for RAC1. Involved in skeletal myogenesis (By similarity).

Phenotypes From GWAS Catalog for ARHGEF25 Gene

Gene Ontology (GO) - Molecular Function for ARHGEF25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with ARHGEF25: view
genes like me logo Genes that share phenotypes with ARHGEF25: view

miRNA for ARHGEF25 Gene

miRTarBase miRNAs that target ARHGEF25

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGEF25

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGEF25 Gene

Localization for ARHGEF25 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF25 Gene

Cell membrane. Cytoplasm, myofibril, sarcomere. Note=Highly colocalizes with actin regions.

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 ARHGEF25 gene
Compartment Confidence
plasma membrane 4
cytosol 4
cytoskeleton 2
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARHGEF25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane ISS --
GO:0016020 membrane IEA --
GO:0030016 myofibril ISS --
genes like me logo Genes that share ontologies with ARHGEF25: view

Pathways & Interactions for ARHGEF25 Gene

genes like me logo Genes that share pathways with ARHGEF25: view

SIGNOR curated interactions for ARHGEF25 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for ARHGEF25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with ARHGEF25: view

Drugs & Compounds for ARHGEF25 Gene

(3) Drugs for ARHGEF25 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with ARHGEF25: view

Transcripts for ARHGEF25 Gene

mRNA/cDNA for ARHGEF25 Gene

4 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 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 ARHGEF25

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF25 Gene

No ASD Table

Relevant External Links for ARHGEF25 Gene

GeneLoc Exon Structure for
ARHGEF25

Expression for ARHGEF25 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGEF25 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGEF25 Gene

This gene is overexpressed in Colon (20.8), Urinary Bladder (19.2), Cervix (7.6), and Ovary (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ARHGEF25 Gene



Protein tissue co-expression partners for ARHGEF25 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGEF25

SOURCE GeneReport for Unigene cluster for ARHGEF25 Gene:

Hs.61581

mRNA Expression by UniProt/SwissProt for ARHGEF25 Gene:

Q86VW2-ARHGP_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are highly expressed in excitable tissues, such as brain, heart and muscle. Also detected in kidney and liver.

Evidence on tissue expression from TISSUES for ARHGEF25 Gene

  • Nervous system(4.6)
  • Muscle(2.3)
  • Heart(2.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with ARHGEF25: 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 ARHGEF25 Gene

Orthologs for ARHGEF25 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGEF25 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARHGEF25 29 30
  • 99.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GEFT 30
  • 92 (a)
OneToOne
ARHGEF25 29
  • 90.79 (n)
Dog
(Canis familiaris)
Mammalia ARHGEF25 29 30
  • 89.82 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Arhgef25 29 16 30
  • 86.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arhgef25 29
  • 86.18 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF25 30
  • 62 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 3 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 59 (a)
ManyToMany
-- 30
  • 8 (a)
ManyToMany
-- 30
  • 4 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii ARHGEF25 (2 of 2) 30
  • 42 (a)
OneToMany
arhgef25b 30
  • 41 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta trio 30
  • 7 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 19 (a)
OneToMany
Species where no ortholog for ARHGEF25 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ARHGEF25 Gene

ENSEMBL:
Gene Tree for ARHGEF25 (if available)
TreeFam:
Gene Tree for ARHGEF25 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGEF25: view image
Alliance of Genome Resources:
Additional Orthologs for ARHGEF25

Paralogs for ARHGEF25 Gene

(3) SIMAP similar genes for ARHGEF25 Gene using alignment to 1 proteins:

  • ARHGP_HUMAN
genes like me logo Genes that share paralogs with ARHGEF25: view

Variants for ARHGEF25 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGEF25 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
768558 Benign: not provided 57,616,380(+) A/.
NM_182947.4(ARHGEF25):c.1517= (p.Gln506=)
NON_CODING_TRANSCRIPT_VARIANT,NO_SEQUENCE_ALTERATION
982196 Likely Pathogenic: Moyamoya angiopathy 57,615,924(+) C/T
NM_182947.4(ARHGEF25):c.1327C>T (p.Arg443Cys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs193921117 Uncertain Significance: Malignant tumor of prostate 57,614,324(+) C/A
NM_182947.4(ARHGEF25):c.657-7C>A
INTRON
rs1564374 -- p.Gln506Arg
rs17854492 -- p.Gly397Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARHGEF25 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 ARHGEF25 Gene

Variant ID Type Subtype PubMed ID
nsv482992 CNV gain+loss 15286789
nsv559034 CNV loss 21841781

Variation tolerance for ARHGEF25 Gene

Residual Variation Intolerance Score: 44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.00; 49.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGEF25 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGEF25
Leiden Open Variation Database (LOVD)
ARHGEF25

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF25 Gene

Disorders for ARHGEF25 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ARHGEF25 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
moyamoya angiopathy
atrophic rhinitis
  • dry rhinitis
rhabdomyosarcoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGEF25

genes like me logo Genes that share disorders with ARHGEF25: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGEF25 Gene

Publications for ARHGEF25 Gene

  1. A Rac/Cdc42-specific exchange factor, GEFT, induces cell proliferation, transformation, and migration. (PMID: 12547822) Guo X … Liu M (The Journal of biological chemistry 2003) 2 3 4 22
  2. p63RhoGEF and GEFT are Rho-specific guanine nucleotide exchange factors encoded by the same gene. (PMID: 15069594) Lutz S … Wieland T (Naunyn-Schmiedeberg's archives of pharmacology 2004) 3 4 22
  3. Structure of Galphaq-p63RhoGEF-RhoA complex reveals a pathway for the activation of RhoA by GPCRs. (PMID: 18096806) Lutz S … Tesmer JJ (Science (New York, N.Y.) 2007) 3 4
  4. Modulation of muscle regeneration, myogenesis, and adipogenesis by the Rho family guanine nucleotide exchange factor GEFT. (PMID: 16314529) Bryan BA … Liu M (Molecular and cellular biology 2005) 3 4
  5. The guanine nucleotide exchange factor p63RhoGEF, a specific link between Gq/11-coupled receptor signaling and RhoA. (PMID: 15632174) Lutz S … Wieland T (The Journal of biological chemistry 2005) 3 4

Products for ARHGEF25 Gene

Sources for ARHGEF25 Gene