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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]
ARHGAP32 (Rho GTPase Activating Protein 32) is a Protein Coding gene. Diseases associated with ARHGAP32 include Bartter Syndrome, Type 2, Antenatal and Borna Disease. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and phosphatidylinositol binding. An important paralog of this gene is ARHGAP33.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | p75 NTR receptor-mediated signalling |
.36
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2 | Signaling by GPCR | ||
3 | Signaling by Rho GTPases | ||
4 | Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases |
Development MAG-dependent inhibition of neurite outgrowth
.42
|
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5 | G-protein signaling_Regulation of CDC42 activity |
G-protein signaling_Regulation of CDC42 activity
-
|
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 | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
N-Methyl-D-aspartic acid |
|
6384-92-5 |
|
Compound | Action | Cas Number |
---|---|---|
HJC 0350 | 885434-70-8 |
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: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ARHGAP32 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ARHGAP32 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Arhgap32 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Arhgap32 30 |
|
||
Cow (Bos Taurus) |
Mammalia | ARHGAP32 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ARHGAP32 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ARHGAP32 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ARHGAP32 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ARHGAP32 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | arhgap32 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.34587 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | im:7150060 30 |
|
||
ARHGAP32 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CdGAPr 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | rrc-1 31 |
|
ManyToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RGD1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
bartter syndrome, type 2, antenatal |
|
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borna disease |
|
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jacobsen syndrome |
|
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chromosome 17q23.1-q23.2 deletion syndrome |
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johanson-blizzard syndrome |
|
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