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 f... See more...

Aliases for ARHGEF7 Gene

Aliases for ARHGEF7 Gene

  • Rho Guanine Nucleotide Exchange Factor 7 2 3 3 4 5
  • PAK-Interacting Exchange Factor Beta 2 3 4
  • P85SPR 2 3 4
  • COOL1 2 3 4
  • PIXB 2 3 4
  • P85 2 3 4
  • Rho Guanine Nucleotide Exchange Factor (GEF) 7 2 3
  • SH3 Domain-Containing Proline-Rich Protein 2 3
  • Nbla10314 2 3
  • BETA-PIX 2 3
  • P85COOL1 2 3
  • KIAA0142 2 4
  • COOL-1 3 4
  • P50BP 2 3
  • PAK3 2 3
  • P50 2 3
  • DKFZp686C12170 2
  • DKFZp761K1021 2
  • Beta-Pix 4
  • ARHGEF7 5
  • PAK3BP 4

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 Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are RET signaling and Guidance Cues and Growth Cone Motility. Gene Ontology (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 Summary 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

Additional gene information for ARHGEF7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGEF7 Gene

Genomics for ARHGEF7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARHGEF7 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
GH13J110710 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600 -399.8 -399777 7.6 SP1 HNRNPL CREB1 GATAD2A CTCF TEAD4 PRDM10 ZNF629 REST RFX1 CARS2 ING1 lnc-RAB20-3 piR-52429 ARHGEF7 ANKRD10-IT1 ANKRD10 COL4A2 NAXD COL4A1
GH13J111152 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 620.2 +39.6 39576 4.1 ZNF221 SP1 HNRNPL CREB1 ZNF629 RFX1 ZNF692 POLR2A BACH1 LARP7 ARHGEF7 ENSG00000285856 LOC101060553 COL4A2 ARHGEF7-AS2 NAXD COL4A1 lnc-ANKRD10-6 TEX29
GH13J111113 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +2.0 1954 5.1 RNF2 REST KDM1A POLR2A SP1 ZNF501 EZH2 ARNT ZBTB20 ZNF10 ARHGEF7-AS2 ARHGEF7 LINC00368 TEX29
GH13J111200 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 624.1 +88.4 88411 5.1 CEBPG ZNF629 ZNF7 PRDM1 ZIC2 POLR2A IKZF2 ZNF600 CEBPA ZNF561 ARHGEF7 ARHGEF7-AS1 ARHGEF7-AS2 ANKRD10 piR-59928-048 lnc-TEX29-7 TEX29
GH13J111183 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 25.3 +71.5 71472 5.3 SP1 POLR2A PRDM1 RELA ZSCAN4 TCF12 IKZF2 RCOR1 ZNF600 ZNF341 ARHGEF7 ARHGEF7-AS2 SALL4P4 piR-38599-014 TEX29
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGEF7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGEF7

Top Transcription factor binding sites by QIAGEN in the ARHGEF7 gene promoter:
  • AML1a
  • AP-4
  • FOXF2
  • p53
  • Pax-2
  • Pax-2a
  • Pax-2b
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for ARHGEF7 Gene

Genomic Locations for ARHGEF7 Gene
chr13:111,114,559-111,305,737
(GRCh38/hg38)
Size:
191,179 bases
Orientation:
Plus strand
chr13:111,766,906-111,958,084
(GRCh37/hg19)
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. Interacts with YWHAZ (By similarity).
    SequenceCaution:
    • Sequence=AAH50521.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA09763.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAD38906.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGEF7 Gene

    Alternative splice isoforms for ARHGEF7 Gene

neXtProt entry for ARHGEF7 Gene

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 Lys725
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for ARHGEF7
  • Santa Cruz Biotechnology (SCBT) Antibodies for ARHGEF7

No data available for DME Specific Peptides for ARHGEF7 Gene

Domains & Families for ARHGEF7 Gene

Gene Families for ARHGEF7 Gene

Protein Domains for ARHGEF7 Gene

InterPro:
Blocks:
  • SH3 domain signature
  • Pleckstrin-like
  • DH domain
  • Calponin-like actin-binding
ProtoNet:

Suggested Antigen Peptide Sequences for ARHGEF7 Gene

GenScript: Design optimal peptide antigens:
  • p85 (ARHG7_HUMAN)
  • Rho guanine nucleotide exchange factor (GEF) 7 (B1ALK5_HUMAN)
  • cDNA FLJ52750, highly similar to Rho guanine nucleotide exchange factor 7 (B7Z6D9_HUMAN)
  • cDNA FLJ56152, highly similar to Rho guanine nucleotide exchange factor 7 (B7Z6G2_HUMAN)
  • KIAA0142 splice variant 1 (Q5W9H1_HUMAN)
genes like me logo Genes that share domains with ARHGEF7: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARHGEF7 Gene

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.

Phenotypes From GWAS Catalog for ARHGEF7 Gene

Gene Ontology (GO) - Molecular Function for ARHGEF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IDA 21048939
GO:0005515 protein binding IPI 11864573
GO:0019901 protein kinase binding IPI 21048939
genes like me logo Genes that share ontologies with ARHGEF7: view
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGEF7

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 ARHGEF7 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endosome 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ARHGEF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000322 storage vacuole IEA --
GO:0001726 ruffle IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with ARHGEF7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARHGEF7 Gene

Pathways & Interactions for ARHGEF7 Gene

PathCards logo

SuperPathways for ARHGEF7 Gene

SuperPathway Contained pathways
1 GPCR Pathway
.73
.73
.62
.59
.58
2 p75 NTR receptor-mediated signalling
3 G-AlphaQ Signaling
.47
.47
.40
4 Signaling by GPCR
5 Regulation of actin cytoskeleton
genes like me logo Genes that share pathways with ARHGEF7: view

Pathways by source for ARHGEF7 Gene

4 GeneGo (Thomson Reuters) pathways for ARHGEF7 Gene
  • Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
  • Development A2A receptor signaling
  • Development A2B receptor- action via G-protein alpha s
  • Development Beta-adrenergic receptors signaling via cAMP
26 Qiagen pathways for ARHGEF7 Gene
  • Activation of PKC through GPCR
  • Agrin Interactions at Neuromuscular Junction
  • Breast Cancer Regulation by Stathmin1
  • CDC42 Pathway
  • CXCR4 Pathway
2 Cell Signaling Technology pathways for ARHGEF7 Gene

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:0007030 Golgi organization IMP 25500533
GO:0007165 signal transduction TAS 9659915
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with ARHGEF7: view

Drugs & Compounds for ARHGEF7 Gene

(8) 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

(6) 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

mRNA/cDNA for ARHGEF7 Gene

27 REFSEQ mRNAs :
33 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGEF7

Clone 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

Expression for ARHGEF7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ARHGEF7 Gene



Protein tissue co-expression partners for ARHGEF7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGEF7

SOURCE GeneReport for Unigene cluster for ARHGEF7 Gene:

Hs.508738

Evidence on tissue expression from TISSUES for ARHGEF7 Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Bone marrow(4.4)
  • Skin(2.7)
  • Kidney(2.6)
  • Heart(2.6)
  • Muscle(2.5)
  • Lung(2.4)
  • Blood(2.4)
  • Intestine(2.3)
  • Lymph node(2.2)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with ARHGEF7: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia ARHGEF7 30 31
  • 99.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARHGEF7 30 31
  • 90 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARHGEF7 30 31
  • 88.36 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Arhgef7 30 17 31
  • 87.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arhgef7 30
  • 86.43 (n)
Oppossum
(Monodelphis domestica)
Mammalia ARHGEF7 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF7 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ARHGEF7 30 31
  • 83.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARHGEF7 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arhgef7 30
  • 77.22 (n)
Zebrafish
(Danio rerio)
Actinopterygii arhgef7a 30 31
  • 71.28 (n)
OneToMany
arhgef7b 31
  • 65 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta rtGEF 31 32
  • 16 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea pix-1 30 31
  • 44.36 (n)
OneToMany
K11E4.4 32
  • 26 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2909 31
  • 41 (a)
OneToMany
Species where no ortholog for ARHGEF7 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 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)

Evolution for ARHGEF7 Gene

ENSEMBL:
Gene Tree for ARHGEF7 (if available)
TreeFam:
Gene Tree for ARHGEF7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGEF7: view image

Paralogs for ARHGEF7 Gene

(75) SIMAP similar genes for ARHGEF7 Gene using alignment to 13 proteins:

  • ARHG7_HUMAN
  • B1ALK7_HUMAN
  • B1ANY6_HUMAN
  • B7Z6D9_HUMAN
  • B7Z6G2_HUMAN
  • C9JAD7_HUMAN
  • C9JDI6_HUMAN
  • E7ENL8_HUMAN
  • E7EU80_HUMAN
  • E7EUY6_HUMAN
  • E9PDQ5_HUMAN
  • Q5ZEZ2_HUMAN
  • Q5ZEZ3_HUMAN
genes like me logo Genes that share paralogs with ARHGEF7: view

Variants for ARHGEF7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGEF7 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
707928 Benign: not provided 111,283,321(+) C/T SYNONYMOUS_VARIANT
712142 Benign: not provided 111,283,324(+) G/A SYNONYMOUS_VARIANT
716380 Benign: not provided 111,267,623(+) G/A SYNONYMOUS_VARIANT
718528 Benign: not provided 111,286,227(+) C/T SYNONYMOUS_VARIANT
718926 Likely Benign: not provided 111,209,997(+) A/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ARHGEF7 Gene

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

Variant ID Type Subtype PubMed ID
dgv241e201 CNV deletion 23290073
dgv242e201 CNV deletion 23290073
dgv373e214 CNV gain 21293372
dgv374e214 CNV loss 21293372
esv1576482 CNV deletion 17803354
esv2748050 CNV deletion 23290073
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
esv2751129 CNV gain 17911159
esv2759967 CNV gain 17122850
esv32604 CNV loss 17666407
esv3580906 CNV loss 25503493
esv3633561 CNV gain 21293372
nsv1113608 CNV deletion 24896259
nsv1121867 CNV deletion 24896259
nsv1133045 OTHER inversion 24896259
nsv1185 CNV deletion 18451855
nsv1186 CNV deletion 18451855
nsv563182 CNV loss 21841781
nsv958152 CNV deletion 24416366

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)

Additional Variant Information for ARHGEF7 Gene

Human Gene Mutation Database (HGMD)
ARHGEF7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGEF7

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

Disorders for ARHGEF7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARHGEF7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
non-syndromic x-linked intellectual disability
  • non-specific x-linked mental retardation
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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. Activity-dependent synaptogenesis: regulation by a CaM-kinase kinase/CaM-kinase I/betaPIX signaling complex. (PMID: 18184567) Saneyoshi T … Soderling TR (Neuron 2008) 3 4 23
  2. Mammalian Scribble forms a tight complex with the betaPIX exchange factor. (PMID: 15182672) Audebert S … Borg JP (Current biology : CB 2004) 3 4 23
  3. A novel regulator of p21-activated kinases. (PMID: 9726964) Bagrodia S … Cerione RA (The Journal of biological chemistry 1998) 2 3 4
  4. Structure and mutagenesis of the Dbl homology domain. (PMID: 9846881) Aghazadeh B … Rosen MK (Nature structural biology 1998) 3 4 23
  5. Bin2 is a membrane sculpting N-BAR protein that influences leucocyte podosomes, motility and phagocytosis. (PMID: 23285027) Sánchez-Barrena MJ … McMahon HT (PloS one 2012) 3 4

Products for ARHGEF7 Gene

Sources for ARHGEF7 Gene