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Aliases for ARHGEF7 Gene

Aliases for ARHGEF7 Gene

  • Rho Guanine Nucleotide Exchange Factor 7 2 3 5
  • PAK-Interacting Exchange Factor Beta 2 3 4
  • Rho Guanine Nucleotide Exchange Factor (GEF) 7 2 3
  • SH3 Domain-Containing Proline-Rich Protein 2 3
  • BETA-PIX 3 4
  • COOL-1 3 4
  • P85SPR 3 4
  • COOL1 3 4
  • PIXB 3 4
  • P85 3 4
  • Nbla10314 3
  • P85COOL1 3
  • KIAA0142 4
  • PAK3BP 4
  • P50BP 3
  • PAK3 3
  • P50 3

External Ids for ARHGEF7 Gene

Previous GeneCards Identifiers for ARHGEF7 Gene

  • GC13P110166
  • GC13P106154
  • GC13P110604
  • GC13P109465
  • GC13P110565
  • GC13P111766
  • GC13P092335

Summaries for ARHGEF7 Gene

Entrez Gene Summary for ARHGEF7 Gene

  • This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]

GeneCards Summary for ARHGEF7 Gene

ARHGEF7 (Rho Guanine Nucleotide Exchange Factor 7) is a Protein Coding gene. Diseases associated with ARHGEF7 include Borjeson-Forssman-Lehmann Syndrome and Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are Development A2B receptor- action via G-protein alpha s and ERK Signaling. GO annotations related to this gene include protein kinase binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF6.

UniProtKB/Swiss-Prot for ARHGEF7 Gene

  • Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions (By similarity). May function as a positive regulator of apoptosis. Downstream of NMDA receptors and CaMKK-CaMK1 signaling cascade, promotes the formation of spines and synapses in hippocampal neurons.

Gene Wiki entry for ARHGEF7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF7 Gene

Genomics for ARHGEF7 Gene

Regulatory Elements for ARHGEF7 Gene

Enhancers for ARHGEF7 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ARHGEF7 on UCSC Golden Path with GeneCards custom track

Promoters for ARHGEF7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARHGEF7 on UCSC Golden Path with GeneCards custom track

Genomic Location for ARHGEF7 Gene

Chromosome:
13
Start:
111,114,559 bp from pter
End:
111,305,737 bp from pter
Size:
191,179 bases
Orientation:
Plus strand

Genomic View for ARHGEF7 Gene

Genes around ARHGEF7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF7 Gene

Proteins for ARHGEF7 Gene

  • Protein details for ARHGEF7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14155-ARHG7_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 7
    Protein Accession:
    Q14155
    Secondary Accessions:
    • B1ALK6
    • B1ALK8
    • Q3LIA4
    • Q5W9H0
    • Q6P9G3
    • Q6PII2
    • Q86W63
    • Q8N3M1

    Protein attributes for ARHGEF7 Gene

    Size:
    803 amino acids
    Molecular mass:
    90012 Da
    Quaternary structure:
    • Interacts with PAK kinases through the SH3 domain. Interacts with GIT1 and TGFB1I1. Interacts with PTK2/FAK1 and RAC1. Interacts with ITCH and PARVB (By similarity). Interacts with unphosphorylated PAK1. Interacts with SCRIB; interaction is direct and may play a role in regulation of apoptosis. Interacts with FRMPD4 (via N-terminus). Interacts with CaMK1. Interacts with BIN2. Isoform 1 and isoform 5 interact with SNX27.
    SequenceCaution:
    • Sequence=AAH50521.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA09763.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD38906.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGEF7 Gene

    Alternative splice isoforms for ARHGEF7 Gene

neXtProt entry for ARHGEF7 Gene

Proteomics data for ARHGEF7 Gene at MOPED

Post-translational modifications for ARHGEF7 Gene

  • Phosphorylated by PTK2/FAK1; this promotes interaction with RAC1 (By similarity). Phosphorylated on Ser-694 by CaMK1; enhancement of GEF activity and downstream activation of RAC1.
  • Ubiquitination at Lys 547 and Lys 598
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ARHGEF7 (ARHGEF7)

No data available for DME Specific Peptides for ARHGEF7 Gene

Domains & Families for ARHGEF7 Gene

Graphical View of Domain Structure for InterPro Entry

Q14155

UniProtKB/Swiss-Prot:

ARHG7_HUMAN :
  • Contains 1 CH (calponin-homology) domain.
Domain:
  • Contains 1 CH (calponin-homology) domain.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with ARHGEF7: view

Function for ARHGEF7 Gene

Molecular function for ARHGEF7 Gene

UniProtKB/Swiss-Prot Function:
Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions (By similarity). May function as a positive regulator of apoptosis. Downstream of NMDA receptors and CaMKK-CaMK1 signaling cascade, promotes the formation of spines and synapses in hippocampal neurons.
genes like me logo Genes that share phenotypes with ARHGEF7: view

Animal Models for ARHGEF7 Gene

MGI Knock Outs for ARHGEF7:

Animal Model Products

CRISPR Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGEF7 Gene

Localization for ARHGEF7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF7 Gene

Cell junction, focal adhesion. Cell projection, ruffle. Cytoplasm, cell cortex. Cell projection, lamellipodium. Note=Detected at cell adhesions. A small proportion is detected at focal adhesions.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARHGEF7 Gene COMPARTMENTS Subcellular localization image for ARHGEF7 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 3
cytoskeleton 2
vacuole 2

Gene Ontology (GO) - Cellular Components for ARHGEF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005829 cytosol IEA,TAS --
GO:0030027 lamellipodium IEA,ISS --
genes like me logo Genes that share ontologies with ARHGEF7: view

Pathways & Interactions for ARHGEF7 Gene

genes like me logo Genes that share pathways with ARHGEF7: view

SIGNOR curated interactions for ARHGEF7 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for ARHGEF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007399 nervous system development IEA --
GO:0007411 axon guidance TAS --
GO:0030032 lamellipodium assembly IEA,ISS --
genes like me logo Genes that share ontologies with ARHGEF7: view

Drugs & Compounds for ARHGEF7 Gene

(7) Drugs for ARHGEF7 Gene - From: HMDB and Novoseek

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

(7) Additional Compounds for ARHGEF7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ARHGEF7: view

Transcripts for ARHGEF7 Gene

Unigene Clusters for ARHGEF7 Gene

Rho guanine nucleotide exchange factor (GEF) 7:
Representative Sequences:

CRISPR Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF7 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - - - - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - - - - -
SP6: - - - - - - - -
SP7:
SP8:
SP9:
SP10: - - -
SP11:
SP12: - - -
SP13:

ExUns: 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: - - -
SP5: - - -
SP6: - - - -
SP7: -
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ARHGEF7 Gene

GeneLoc Exon Structure for
ARHGEF7
ECgene alternative splicing isoforms for
ARHGEF7

Expression for ARHGEF7 Gene

mRNA expression in normal human tissues for ARHGEF7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGEF7 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.3), Lymph node (8.7), and Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ARHGEF7 Gene



SOURCE GeneReport for Unigene cluster for ARHGEF7 Gene Hs.508738

genes like me logo Genes that share expression patterns with ARHGEF7: view

Protein tissue co-expression partners for ARHGEF7 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ARHGEF7 Gene

Orthologs for ARHGEF7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGEF7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ARHGEF7 35
  • 88.36 (n)
  • 94.88 (a)
ARHGEF7 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGEF7 35
  • 90 (n)
  • 95.2 (a)
ARHGEF7 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgef7 35
  • 87.13 (n)
  • 94.5 (a)
Arhgef7 16
Arhgef7 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF7 35
  • 99.52 (n)
  • 99.68 (a)
ARHGEF7 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgef7 35
  • 86.43 (n)
  • 93.97 (a)
oppossum
(Monodelphis domestica)
Mammalia ARHGEF7 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF7 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGEF7 35
  • 83.35 (n)
  • 93.64 (a)
ARHGEF7 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGEF7 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef7 35
  • 77.22 (n)
  • 87.34 (a)
zebrafish
(Danio rerio)
Actinopterygii arhgef7a 35
  • 71.28 (n)
  • 77.42 (a)
arhgef7a 36
  • 69 (a)
OneToMany
arhgef7b 36
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta rtGEF 37
  • 45 (a)
rtGEF 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K11E4.4 37
  • 26 (a)
pix-1 35
  • 44.36 (n)
  • 31.48 (a)
pix-1 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2909 36
  • 41 (a)
OneToMany
Species with no ortholog for ARHGEF7:
  • A. gosspyii yeast (Ashbya 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 ARHGEF7 Gene

ENSEMBL:
Gene Tree for ARHGEF7 (if available)
TreeFam:
Gene Tree for ARHGEF7 (if available)

Paralogs for ARHGEF7 Gene

genes like me logo Genes that share paralogs with ARHGEF7: view

Variants for ARHGEF7 Gene

Sequence variations from dbSNP and Humsavar for ARHGEF7 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
VAR_064694 -
rs2951 -- 111,280,943(-) CCACA(C/T)GGAGC intron-variant, downstream-variant-500B
rs6692 -- 111,305,522(+) CATGC(A/G)CTGGG utr-variant-3-prime
rs860520 -- 111,133,658(+) tttgg(G/T)tgtat intron-variant
rs880248 -- 111,247,958(+) AGGCC(C/T)ATGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARHGEF7 Gene

Variant ID Type Subtype PubMed ID
dgv594e1 CNV Complex 17122850
esv2751129 CNV Gain 17911159
nsv1185 CNV Loss 18451855
nsv901015 CNV Loss 21882294
esv32604 CNV Loss 17666407
nsv1186 CNV Loss 18451855
esv2748050 CNV Deletion 23290073
dgv268e201 CNV Deletion 23290073
dgv269e201 CNV Deletion 23290073
esv1576482 CNV Deletion 17803354
esv2748053 CNV Deletion 23290073
esv2748054 CNV Deletion 23290073
esv2748055 CNV Deletion 23290073
esv2748056 CNV Deletion 23290073
esv2748057 CNV Deletion 23290073
esv2748058 CNV Deletion 23290073
esv2748059 CNV Deletion 23290073

Variation tolerance for ARHGEF7 Gene

Residual Variation Intolerance Score: 5.79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARHGEF7 Gene

Human Gene Mutation Database (HGMD)
ARHGEF7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF7 Gene

Disorders for ARHGEF7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ARHGEF7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
borjeson-forssman-lehmann syndrome
  • borjeson syndrome
non-syndromic x-linked intellectual disability
  • mrx
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ARHGEF7

Genetic Association Database (GAD)
ARHGEF7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARHGEF7
genes like me logo Genes that share disorders with ARHGEF7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGEF7 Gene

Publications for ARHGEF7 Gene

  1. A novel regulator of p21-activated kinases. (PMID: 9726964) Bagrodia S. … Cerione R.A. (J. Biol. Chem. 1998) 2 3 4 67
  2. Activity-dependent synaptogenesis: regulation by a CaM-kinase kinase/CaM-kinase I/betaPIX signaling complex. (PMID: 18184567) Saneyoshi T. … Soderling T.R. (Neuron 2008) 3 23
  3. Affixin activates Rac1 via betaPIX in C2C12 myoblast. (PMID: 18325335) Matsuda C. … Hayashi Y.K. (FEBS Lett. 2008) 3 23
  4. Tiam1 and betaPIX mediate Rac-dependent endothelial barrier protective response to oxidized phospholipids. (PMID: 17219408) Birukova A.A. … Birukov K.G. (J. Cell. Physiol. 2007) 3 23
  5. Role of phospholipase Cgamma1 in cell spreading requires association with a beta-Pix/GIT1-containing complex, leading to activation of Cdc42 and Rac1. (PMID: 17562871) Jones N.P. … Katan M. (Mol. Cell. Biol. 2007) 3 23

Products for ARHGEF7 Gene

Sources for ARHGEF7 Gene

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