RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008] See more...

Aliases for ARHGAP32 Gene

Aliases for ARHGAP32 Gene

  • Rho GTPase Activating Protein 32 2 3 5
  • GC-GAP 2 3 4
  • GRIT 2 3 4
  • RICS 2 3 4
  • RhoGAP Involved In The Beta-Catenin-N-Cadherin And NMDA Receptor Signaling 3 4
  • GAB-Associated Cdc42/Rac GTPase-Activating Protein 3 4
  • Brain-Specific Rho GTPase-Activating Protein 3 4
  • Rho/Cdc42/Rac GTPase-Activating Protein RICS 3 4
  • GTPase Regulator Interacting With TrkA 3 4
  • Rho-Type GTPase-Activating Protein 32 3 4
  • Rho GTPase-Activating Protein 32 3 4
  • P200RhoGAP 3 4
  • KIAA0712 2 4
  • P250GAP 3 4
  • RhoGAP Involved In The -Catenin-N-Cadherin And NMDA Receptor Signaling 3
  • Brain-Specific Rho GTP-Ase-Activating Protein 3
  • GTPase-Activating Protein For Cdc42 And Rac1 3
  • Rac GTPase Activating Protein 3
  • GAB-Associated CDC42 3
  • ARHGAP32 5
  • PX-RICS 3
  • MGC1892 2

External Ids for ARHGAP32 Gene

Previous GeneCards Identifiers for ARHGAP32 Gene

  • GC11M128834
  • GC11M124785

Summaries for ARHGAP32 Gene

Entrez Gene Summary for ARHGAP32 Gene

  • RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ARHGAP32 Gene

ARHGAP32 (Rho GTPase Activating Protein 32) is a Protein Coding gene. Diseases associated with ARHGAP32 include Bartter Syndrome, Type 2, Antenatal and Jacobsen Syndrome. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and phosphatidylinositol binding. An important paralog of this gene is ARHGAP33.

UniProtKB/Swiss-Prot Summary for ARHGAP32 Gene

  • GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases. May be involved in the differentiation of neuronal cells during the formation of neurite extensions. Involved in NMDA receptor activity-dependent actin reorganization in dendritic spines. May mediate cross-talks between Ras- and Rho-regulated signaling pathways in cell growth regulation. Isoform 2 has higher GAP activity (By similarity).

Gene Wiki entry for ARHGAP32 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGAP32 Gene

Genomics for ARHGAP32 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARHGAP32 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
GH11J129278 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 271.4 -0.1 -92 3.6 CEBPA POLR2A ZIC2 SIN3A MAX KMT2B REST MAFF SMAD4 SAP130 ARHGAP32 lnc-BARX2-5 LOC399975 BARX2
GH11J129023 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 256 +255.6 255648 2.1 JUND ZIC2 ZNF217 ELF1 CUX1 STAT3 POLR2A DPF2 GLIS1 PRDM4 ARHGAP32 KCNJ5 ENSG00000206847 RF00026-202 RNU6-876P TP53AIP1
GH11J129246 Enhancer 1 Ensembl ENCODE 25.7 +30.3 30317 5.2 JUND ATF2 CEBPA CEBPB HOMEZ MAX EP300 FOXA2 MAFF SAP130 ARHGAP32 HSALNG0088142 HSALNG0088144 LOC399975 TP53AIP1
GH11J129141 Enhancer 1.1 FANTOM5 ENCODE 22.8 +135.2 135166 5.3 ZNF600 SSRP1 JUND CEBPA CEBPB HOMEZ MAX KMT2B EP300 THAP11 ARHGAP32 lnc-BARX2-3 ENSG00000206847 TP53AIP1
GH11J128956 Enhancer 0.8 Ensembl ENCODE 21.8 +323.7 323718 2.8 ZNF654 IKZF1 ZNF600 REST TRIM22 ZFP64 CTCF ELF1 RAD21 SMC3 HSALNG0088139 ARHGAP32 piR-35674-087 TP53AIP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGAP32 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGAP32

Genomic Locations for ARHGAP32 Gene

Latest Assembly
chr11:128,965,060-129,279,518
(GRCh38/hg38)
Size:
314,459 bases
Orientation:
Minus strand

Previous Assembly
chr11:128,834,955-129,149,413
(GRCh37/hg19 by Entrez Gene)
Size:
314,459 bases
Orientation:
Minus strand

chr11:128,834,955-129,149,219
(GRCh37/hg19 by Ensembl)
Size:
314,265 bases
Orientation:
Minus strand

Genomic View for ARHGAP32 Gene

Genes around ARHGAP32 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP32 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP32 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP32 Gene

Proteins for ARHGAP32 Gene

  • Protein details for ARHGAP32 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A7KAX9-RHG32_HUMAN
    Recommended name:
    Rho GTPase-activating protein 32
    Protein Accession:
    A7KAX9
    Secondary Accessions:
    • I7H0B0
    • O94820
    • Q86YL6
    • Q8IUG4
    • Q9BWG3

    Protein attributes for ARHGAP32 Gene

    Size:
    2087 amino acids
    Molecular mass:
    230529 Da
    Quaternary structure:
    • Interacts with NTRK1 (via cytoplasmic domain); the interaction is independent of the phosphorylation state of NTRK1 (PubMed:12446789). Interacts with SHC3 (via SH2 domain) (PubMed:12446789). Interacts with RASA1 (via SH3 domain); the interaction is necessary for the Ras activation and cell transforming activities of ARHGAP32 (By similarity). Interacts with GAB1 and GAB2 (PubMed:12819203). Interacts with CRK and CRKL (PubMed:12819203, PubMed:12446789). Found in a complex with CRKL and BCAR1; upon EGF stimulation BCAR1 may be replaced by EGFR (PubMed:12446789, PubMed:12819203). Interacts with NCK1 (via SH3 domain); NCK1 recruits phosphorylated BCAR1 to the complex (PubMed:12819203). Isoform 2 interacts with FYN; the interaction appears to be dependent on tyrosine phosphorylation of ARHGAP32 (PubMed:12788081). Interacts with EGFR; the interaction requires EGF stimulation and is increased by SHC3 (PubMed:12446789). Interacts with CDC42; the interaction requires constitutively active CDC42. Interacts with CTNNB1 (PubMed:12531901). Interacts with GRIN2B (PubMed:12857875). Interacts with DLG4 and CDH2 (By similarity). Interacts with GPHN (By similarity).
    SequenceCaution:
    • Sequence=BAA34432.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGAP32 Gene

    Alternative splice isoforms for ARHGAP32 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP32 Gene

Post-translational modifications for ARHGAP32 Gene

  • Isoform 2 is phosphorylated on multiple tyrosine residues by FYN. Phosphorylated tyrosine residues undergo dephosphorylation after stimulation of NMDA receptors (By similarity). Phosphorylated in vitro by CaMK2 in the presence of calmodulin and calcium; which inhibits GAP activity (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ARHGAP32 Gene

Domains & Families for ARHGAP32 Gene

Gene Families for ARHGAP32 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ARHGAP32 Gene

GenScript: Design optimal peptide antigens:
  • RICS protein (Q86UT2_HUMAN)
  • p250GAP (RHG32_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A7KAX9

UniProtKB/Swiss-Prot:

RHG32_HUMAN :
  • The N-terminal PX domain interacts specifically with phosphatidylinositides.
Domain:
  • The N-terminal PX domain interacts specifically with phosphatidylinositides.
  • Belongs to the PX domain-containing GAP family.
genes like me logo Genes that share domains with ARHGAP32: view

Function for ARHGAP32 Gene

Molecular function for ARHGAP32 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases. May be involved in the differentiation of neuronal cells during the formation of neurite extensions. Involved in NMDA receptor activity-dependent actin reorganization in dendritic spines. May mediate cross-talks between Ras- and Rho-regulated signaling pathways in cell growth regulation. Isoform 2 has higher GAP activity (By similarity).

Phenotypes From GWAS Catalog for ARHGAP32 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0005515 protein binding IPI 12788081
GO:0035091 phosphatidylinositol binding IEA --
GO:1901981 phosphatidylinositol phosphate binding IEA --
genes like me logo Genes that share ontologies with ARHGAP32: view
genes like me logo Genes that share phenotypes with ARHGAP32: view

Animal Models for ARHGAP32 Gene

MGI Knock Outs for ARHGAP32:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP32

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGAP32 Gene

Localization for ARHGAP32 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP32 Gene

Cell junction, synapse, postsynaptic density. Cell projection, dendritic spine. Cytoplasm, cell cortex. Endosome membrane. Golgi apparatus membrane. Endoplasmic reticulum membrane. Membrane. Note=Association to membrane via PX domain (PubMed:17663722). Associated with cortical actin in undifferentiated neuroblastoma cells, but localized to dendritic spine and postsynaptic density after differentiation (By similarity). Colocalizes with EGFR at the cell membrane upon EGF treatment (PubMed:12446789). Colocalizes with GAB2 at the cell membrane (PubMed:12819203). {ECO:0000250 UniProtKB:Q811P8, ECO:0000269 PubMed:12446789, ECO:0000269 PubMed:12819203, ECO:0000269 PubMed:17663722}.

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 ARHGAP32 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 4
golgi apparatus 4
endosome 3
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleoli fibrillar center (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARHGAP32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0001650 fibrillar center IBA,IDA --
GO:0005654 nucleoplasm IBA,IDA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with ARHGAP32: view

Pathways & Interactions for ARHGAP32 Gene

PathCards logo

SuperPathways for ARHGAP32 Gene

SuperPathway Contained pathways
1 p75 NTR receptor-mediated signalling
2 Signaling by GPCR
3 Signaling by Rho GTPases
4 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.42
5 G-protein signaling_Regulation of CDC42 activity
-
genes like me logo Genes that share pathways with ARHGAP32: view

Pathways by source for ARHGAP32 Gene

3 Reactome pathways for ARHGAP32 Gene
4 GeneGo (Thomson Reuters) pathways for ARHGAP32 Gene
  • Development MAG-dependent inhibition of neurite outgrowth
  • G-protein signaling_Regulation of CDC42 activity
  • G-protein signaling_Regulation of RAC1 activity
  • G-protein signaling_RhoA regulation pathway
1 GeneTex pathway for ARHGAP32 Gene

SIGNOR curated interactions for ARHGAP32 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ARHGAP32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction IBA 21873635
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with ARHGAP32: view

Drugs & Compounds for ARHGAP32 Gene

(4) Drugs for ARHGAP32 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
HJC 0350 Pharma 0
Calcium Nutra 6959

(2) Additional Compounds for ARHGAP32 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Methyl-D-aspartic acid
  • (R)-2-Methylamino-succinic acid
  • 2-Methylamino-succinic acid
  • Methyl aspartic acid
  • N-Methyl aspartic acid
  • N-Methyl-D-aspartate
6384-92-5

(1) ApexBio Compounds for ARHGAP32 Gene

Compound Action Cas Number
HJC 0350 885434-70-8
genes like me logo Genes that share compounds with ARHGAP32: view

Drug products for research

Transcripts for ARHGAP32 Gene

mRNA/cDNA for ARHGAP32 Gene

4 REFSEQ mRNAs :
18 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 ARHGAP32

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP32 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b ^ 21
SP1: - -
SP2: - -
SP3:
SP4: -

Relevant External Links for ARHGAP32 Gene

GeneLoc Exon Structure for
ARHGAP32

Expression for ARHGAP32 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGAP32 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGAP32 Gene

This gene is overexpressed in Cervix (52.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGAP32 Gene



Protein tissue co-expression partners for ARHGAP32 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGAP32

SOURCE GeneReport for Unigene cluster for ARHGAP32 Gene:

Hs.440379

mRNA Expression by UniProt/SwissProt for ARHGAP32 Gene:

A7KAX9-RHG32_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are highly expressed in brain and testis. Isoform 1 is also expressed in other tissues such as lung, liver and spleen.

Evidence on tissue expression from TISSUES for ARHGAP32 Gene

  • Nervous system(4.9)
  • Intestine(4.5)
  • Eye(4.4)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with ARHGAP32: 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 ARHGAP32 Gene

Orthologs for ARHGAP32 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARHGAP32 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARHGAP32 29 30
  • 99.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARHGAP32 29 30
  • 87.95 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Arhgap32 29 16 30
  • 86.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arhgap32 29
  • 85.81 (n)
Cow
(Bos Taurus)
Mammalia ARHGAP32 29 30
  • 83.09 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARHGAP32 30
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP32 30
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ARHGAP32 29 30
  • 68.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARHGAP32 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arhgap32 29
  • 65.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.34587 29
Zebrafish
(Danio rerio)
Actinopterygii im:7150060 29
  • 60.52 (n)
ARHGAP32 30
  • 50 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CdGAPr 30
  • 22 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rrc-1 30
  • 30 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RGD1 30
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 49 (a)
OneToMany
Species where no ortholog for ARHGAP32 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)
  • 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 ARHGAP32 Gene

ENSEMBL:
Gene Tree for ARHGAP32 (if available)
TreeFam:
Gene Tree for ARHGAP32 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGAP32: view image
Alliance of Genome Resources:
Additional Orthologs for ARHGAP32

Paralogs for ARHGAP32 Gene

Paralogs for ARHGAP32 Gene

(9) SIMAP similar genes for ARHGAP32 Gene using alignment to 3 proteins:

  • RHG32_HUMAN
  • E9PRH3_HUMAN
  • G3V174_HUMAN
genes like me logo Genes that share paralogs with ARHGAP32: view

Variants for ARHGAP32 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGAP32 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs112411848 Benign: not provided 128,972,821(-) A/G
NM_001142685.1(ARHGAP32):c.3643T>C (p.Ser1215Pro)
MISSENSE
rs113749911 Likely Benign: not provided 128,980,714(-) G/A
NM_001142685.1(ARHGAP32):c.1773C>T (p.Ser591=)
SYNONYMOUS
rs116064946 Benign: not provided 128,972,712(-) G/A
NM_001142685.1(ARHGAP32):c.3752C>T (p.Ser1251Phe)
MISSENSE
rs116891747 Benign: not provided 128,968,955(-) G/A
NM_001142685.1(ARHGAP32):c.6216C>T (p.Pro2072=)
SYNONYMOUS
rs140367157 Likely Benign: not provided 128,970,983(-) G/C
NM_001142685.1(ARHGAP32):c.4188C>G (p.His1396Gln)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARHGAP32 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 ARHGAP32 Gene

Variant ID Type Subtype PubMed ID
esv2243084 CNV deletion 18987734
esv2287161 CNV deletion 18987734
esv2442229 CNV deletion 19546169
esv2601979 CNV deletion 19546169
esv2661820 CNV deletion 23128226
esv2745247 CNV deletion 23290073
esv3304846 CNV mobile element insertion 20981092
esv3309788 CNV mobile element insertion 20981092
esv3377735 CNV insertion 20981092
esv3394165 CNV insertion 20981092
esv3430662 CNV insertion 20981092
esv3447576 CNV insertion 20981092
esv3548512 CNV deletion 23714750
esv3628054 CNV loss 21293372
esv3628057 CNV loss 21293372
esv3628060 CNV loss 21293372
nsv1125539 CNV tandem duplication 24896259
nsv1138086 CNV deletion 24896259
nsv478140 CNV novel sequence insertion 20440878
nsv525837 CNV loss 19592680
nsv826132 CNV gain 20364138
nsv832291 CNV loss 17160897
nsv983213 CNV duplication 23825009

Variation tolerance for ARHGAP32 Gene

Residual Variation Intolerance Score: 3.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.25; 70.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP32 Gene

Human Gene Mutation Database (HGMD)
ARHGAP32
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP32
Leiden Open Variation Database (LOVD)
ARHGAP32

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP32 Gene

Disorders for ARHGAP32 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ARHGAP32 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
bartter syndrome, type 2, antenatal
  • barts2
jacobsen syndrome
  • jbs
borna disease
  • enzootic encephalomyelitis
chromosome 17q23.1-q23.2 deletion syndrome
  • 17q23.1-q23.2 microdeletion syndrome
johanson-blizzard syndrome
  • jbs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGAP32

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ARHGAP32: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGAP32 Gene

Publications for ARHGAP32 Gene

  1. Grit, a GTPase-activating protein for the Rho family, regulates neurite extension through association with the TrkA receptor and N-Shc and CrkL/Crk adapter molecules. (PMID: 12446789) Nakamura T … Mori N (Molecular and cellular biology 2002) 2 3 4 22
  2. PX-RICS, a novel splicing variant of RICS, is a main isoform expressed during neural development. (PMID: 17663722) Hayashi T … Nakamura T (Genes to cells : devoted to molecular & cellular mechanisms 2007) 2 3 4
  3. p250GAP, a neural RhoGAP protein, is associated with and phosphorylated by Fyn. (PMID: 12788081) Taniguchi S … Yamamoto T (Biochemical and biophysical research communications 2003) 3 4 22
  4. Characterization of a brain-specific Rho GTPase-activating protein, p200RhoGAP. (PMID: 12454018) Moon SY … Zheng Y (The Journal of biological chemistry 2003) 3 4 22
  5. GC-GAP, a Rho family GTPase-activating protein that interacts with signaling adapters Gab1 and Gab2. (PMID: 12819203) Zhao C … Feng GS (The Journal of biological chemistry 2003) 2 3 4

Products for ARHGAP32 Gene

  • Biorbyt antibodies for ARHGAP32

Sources for ARHGAP32 Gene