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This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
ARHGAP24 (Rho GTPase Activating Protein 24) is a Protein Coding gene. Diseases associated with ARHGAP24 include Genetic Steroid-Resistant Nephrotic Syndrome and Focal Segmental Glomerulosclerosis 1. Among its related pathways are Signaling by GPCR and G-protein signaling_Regulation of RAC1 activity. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is ARHGAP22.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005096 | GTPase activator activity | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 16862148 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005912 | adherens junction | IEA | -- |
GO:0005925 | focal adhesion | IEA,IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | p75 NTR receptor-mediated signalling |
.36
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|
2 | Signaling by GPCR | ||
3 | Signaling by Rho GTPases | ||
4 | G-protein signaling_Regulation of RAC1 activity |
G-protein signaling_Regulation of RAC1 activity
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001525 | angiogenesis | IEA | -- |
GO:0007165 | signal transduction | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0030154 | cell differentiation | IEA | -- |
GO:0035021 | negative regulation of Rac protein signal transduction | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ARHGAP24 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ARHGAP24 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ARHGAP24 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Arhgap24 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Arhgap24 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ARHGAP24 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ARHGAP24 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ARHGAP24 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | arhgap24 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | arhgap24 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | RhoGAPp190 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | rga-5 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
723157 | Benign: not provided | 86,000,528(+) | G/A | MISSENSE_VARIANT | |
780484 | Benign: not provided | 85,995,269(+) | T/C | MISSENSE_VARIANT | |
809638 | Uncertain Significance: not provided | 85,994,618(+) | A/G | MISSENSE_VARIANT | |
rs112475438 | Uncertain Significance: not provided | 85,942,147(+) | A/G | MISSENSE_VARIANT,INTRON_VARIANT | |
rs143423680 | Uncertain Significance: Focal segmental glomerulosclerosis 1 | 85,977,655(+) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
genetic steroid-resistant nephrotic syndrome |
|
|
focal segmental glomerulosclerosis 1 |
|
|
focal segmental glomerulosclerosis |
|
|
focal segmental glomerulosclerosis 6 |
|
|
periventricular nodular heterotopia |
|
|