Aliases for ARHGEF17 Gene

Aliases for ARHGEF17 Gene

  • Rho Guanine Nucleotide Exchange Factor 17 2 3 3 4 5
  • Tumor Endothelial Marker 4 2 3 4
  • P164-RhoGEF 2 3 4
  • TEM4 2 3 4
  • Rho-Specific Guanine-Nucleotide Exchange Factor 164 KDa 2 3
  • 164 KDa Rho-Specific Guanine-Nucleotide Exchange Factor 3 4
  • Rho Guanine Nucleotide Exchange Factor (GEF) 17 2 3
  • KIAA0337 2 4
  • P164RHOGEF 3
  • P164RhoGEF 4
  • RHOGEF17 3
  • ARHGEF17 5

External Ids for ARHGEF17 Gene

Previous GeneCards Identifiers for ARHGEF17 Gene

  • GC11P073242
  • GC11P072745
  • GC11P072697
  • GC11P073019
  • GC11P069314

Summaries for ARHGEF17 Gene

GeneCards Summary for ARHGEF17 Gene

ARHGEF17 (Rho Guanine Nucleotide Exchange Factor 17) 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 actin filament binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF10L.

UniProtKB/Swiss-Prot Summary for ARHGEF17 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGEF17 Gene

Genomics for ARHGEF17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARHGEF17 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 ARHGEF17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGEF17

Top Transcription factor binding sites by QIAGEN in the ARHGEF17 gene promoter:
  • CBF(2)
  • E47
  • NF-1
  • NF-1/L
  • Nkx2-5
  • Pax-4a
  • SEF-1 (1)
  • SRF
  • SRF (504 AA)
  • Tal-1

Genomic Locations for ARHGEF17 Gene

Latest Assembly
chr11:73,305,961-73,369,388
(GRCh38/hg38)
Size:
63,428 bases
Orientation:
Plus strand

Previous Assembly
chr11:73,019,321-73,080,433
(GRCh37/hg19 by Entrez Gene)
Size:
61,113 bases
Orientation:
Plus strand

chr11:73,019,334-73,080,136
(GRCh37/hg19 by Ensembl)
Size:
60,803 bases
Orientation:
Plus strand

Genomic View for ARHGEF17 Gene

Genes around ARHGEF17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF17 Gene

Proteins for ARHGEF17 Gene

  • Protein details for ARHGEF17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PE2-ARHGH_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 17
    Protein Accession:
    Q96PE2
    Secondary Accessions:
    • B2RP20
    • Q86XU2
    • Q8N2S0
    • Q9Y4G3

    Protein attributes for ARHGEF17 Gene

    Size:
    2063 amino acids
    Molecular mass:
    221673 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ARHGEF17 Gene

Post-translational modifications for ARHGEF17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARHGEF17 Gene

No data available for DME Specific Peptides for ARHGEF17 Gene

Domains & Families for ARHGEF17 Gene

Gene Families for ARHGEF17 Gene

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

Protein Domains for ARHGEF17 Gene

Suggested Antigen Peptide Sequences for ARHGEF17 Gene

GenScript: Design optimal peptide antigens:
  • Tumor endothelial marker 4 (ARHGH_HUMAN)
genes like me logo Genes that share domains with ARHGEF17: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARHGEF17 Gene

Function for ARHGEF17 Gene

Molecular function for ARHGEF17 Gene

UniProtKB/Swiss-Prot Function:
Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases.

Phenotypes From GWAS Catalog for ARHGEF17 Gene

Gene Ontology (GO) - Molecular Function for ARHGEF17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA,IDA 12071859
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IEA,IPI 32296183
genes like me logo Genes that share ontologies with ARHGEF17: view
genes like me logo Genes that share phenotypes with ARHGEF17: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGEF17

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGEF17 Gene

Localization for ARHGEF17 Gene

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 ARHGEF17 gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 2
plasma membrane 1
extracellular 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARHGEF17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ARHGEF17: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF17 Gene

Pathways & Interactions for ARHGEF17 Gene

genes like me logo Genes that share pathways with ARHGEF17: view

SIGNOR curated interactions for ARHGEF17 Gene

Activates:

Gene Ontology (GO) - Biological Process for ARHGEF17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0030036 actin cytoskeleton organization IDA 12071859
GO:0043065 positive regulation of apoptotic process TAS --
GO:0050790 regulation of catalytic activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with ARHGEF17: view

Drugs & Compounds for ARHGEF17 Gene

(3) Drugs for ARHGEF17 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 ARHGEF17: view

Transcripts for ARHGEF17 Gene

mRNA/cDNA for ARHGEF17 Gene

1 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 ARHGEF17

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF17 Gene

No ASD Table

Relevant External Links for ARHGEF17 Gene

GeneLoc Exon Structure for
ARHGEF17

Expression for ARHGEF17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGEF17 Gene

Protein differential expression in normal tissues from HIPED for ARHGEF17 Gene

This gene is overexpressed in Fetal Brain (15.6), Retina (10.1), Pancreas (9.1), and Placenta (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGEF17 Gene



Protein tissue co-expression partners for ARHGEF17 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGEF17

SOURCE GeneReport for Unigene cluster for ARHGEF17 Gene:

Hs.533719

mRNA Expression by UniProt/SwissProt for ARHGEF17 Gene:

Q96PE2-ARHGH_HUMAN
Tissue specificity: Highly expressed in the heart.

Evidence on tissue expression from TISSUES for ARHGEF17 Gene

  • Nervous system(4.8)
  • Intestine(4.3)
  • Liver(4.3)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with ARHGEF17: view

Primer products for research

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 ARHGEF17 Gene

Orthologs for ARHGEF17 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGEF17 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARHGEF17 29
  • 98.49 (n)
Dog
(Canis familiaris)
Mammalia ARHGEF17 29 30
  • 88.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARHGEF17 29 30
  • 86.38 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Arhgef17 29 16 30
  • 84.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arhgef17 29
  • 84.32 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 79 (a)
OneToMany
-- 30
  • 68 (a)
OneToMany
-- 30
  • 17 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia ARHGEF17 30
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ARHGEF17 29 30
  • 70.45 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARHGEF17 30
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arhgef17 29
  • 71.2 (n)
Str.10835 29
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-248g20.5 29
  • 69.72 (n)
ARHGEF17 (1 of 2) 30
  • 66 (a)
OneToMany
ARHGEF17 (2 of 2) 30
  • 29 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG43102 30
  • 23 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea R02F2.2 30
  • 26 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 44 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.6460 29
Species where no ortholog for ARHGEF17 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)
  • 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 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)

Evolution for ARHGEF17 Gene

ENSEMBL:
Gene Tree for ARHGEF17 (if available)
TreeFam:
Gene Tree for ARHGEF17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGEF17: view image
Alliance of Genome Resources:
Additional Orthologs for ARHGEF17

Paralogs for ARHGEF17 Gene

Paralogs for ARHGEF17 Gene

genes like me logo Genes that share paralogs with ARHGEF17: view

Variants for ARHGEF17 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGEF17 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs116785042 Benign: not provided 73,362,481(+) C/T
NM_014786.4(ARHGEF17):c.4743C>T (p.Pro1581=)
SYNONYMOUS
rs147871402 Benign: not provided 73,309,354(+) C/A
NM_014786.4(ARHGEF17):c.716C>A (p.Ser239Tyr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs57661356 Benign: not provided 73,362,517(+) C/T
NM_014786.4(ARHGEF17):c.4779C>T (p.Asp1593=)
SYNONYMOUS
rs2298808 -- p.Ala1465Asp
rs3741150 -- p.Gly450Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARHGEF17 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 ARHGEF17 Gene

Variant ID Type Subtype PubMed ID
nsv473799 CNV novel sequence insertion 20440878
nsv520665 CNV loss 19592680
nsv825993 CNV gain 20364138
nsv832208 CNV gain 17160897
nsv951041 CNV deletion 24416366

Variation tolerance for ARHGEF17 Gene

Residual Variation Intolerance Score: 3.67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.44; 92.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGEF17 Gene

Human Gene Mutation Database (HGMD)
ARHGEF17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGEF17
Leiden Open Variation Database (LOVD)
ARHGEF17

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF17 Gene

Disorders for ARHGEF17 Gene

Additional Disease Information for ARHGEF17

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for ARHGEF17 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARHGEF17 Gene

Publications for ARHGEF17 Gene

  1. A mammalian Rho-specific guanine-nucleotide exchange factor (p164-RhoGEF) without a pleckstrin homology domain. (PMID: 12071859) Rümenapp U … Wieland T (The Biochemical journal 2002) 2 3 4 22
  2. Cell surface tumor endothelial markers are conserved in mice and humans. (PMID: 11559528) Carson-Walter EB … St Croix B (Cancer research 2001) 2 3 4
  3. Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M … Kaibuchi K (Journal of human genetics 2010) 3 40
  4. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ARHGEF17 Gene

Sources for ARHGEF17 Gene