Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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83478
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Rho GTPase activating protein 24 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ARHGAP24 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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FILGAP, RC-GAP72, RCGAP72, p73, p73RhoGAP |
Chromosome
Chromosome number
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4 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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4q21.23-q21.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 la |
UniProt ID |
Q8N264
|
Protein name |
Rho GTPase-activating protein 24 (Filamin-A-associated RhoGAP) (FilGAP) (RAC1- and CDC42-specific GTPase-activating protein of 72 kDa) (RC-GAP72) (Rho-type GTPase-activating protein 24) (RhoGAP of 73 kDa) (Sarcoma antigen NY-SAR-88) (p73RhoGAP) |
Protein function |
Rho GTPase-activating protein involved in cell polarity, cell morphology and cytoskeletal organization. Acts as a GTPase activator for the Rac-type GTPase by converting it to an inactive GDP-bound state. Controls actin remodeling by inactivating |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00169
|
PH |
20 → 124 |
PH domain |
Domain |
PF00620
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RhoGAP |
153 → 304 |
RhoGAP domain |
Domain |
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Tissue specificity |
TISSUE SPECIFICITY: Isoform 1 is widely expressed with a higher level in kidney. Isoform 2 is mainly expressed in endothelial cells. {ECO:0000269|PubMed:15302923, ECO:0000269|PubMed:15611138, ECO:0000269|PubMed:16862148}. |
Sequence |
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Sequence length |
748 |
Interactions |
View interactions
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Focal segmental glomerulosclerosis |
Focal Segmental Glomerulosclerosis, Not Otherwise Specified |
rs267606877, rs267607183, rs267606878, rs267606879, rs267606880, rs121907909, rs74315343, rs121908415, rs121908416, rs121908417, rs1554181304, rs121434390, rs121434392, rs121434393, rs121434394, rs121434395, rs387906807, rs778868018, rs397517920, rs386833865, rs1131692055, rs587777741, rs1184529372, rs76492282, rs75462234, rs202128397, rs879255251, rs879255252, rs749740335, rs138656762, rs869025541, rs878853159, rs1393955970, rs748812981, rs1566778651, rs866294686, rs1566777560, rs1566778676, rs1568723797, rs1568725026, rs1589475328, rs912928648, rs79555199, rs1595166085, rs1596351849, rs1596861969, rs1595163730, rs1588200023, rs779586424, rs759356936, rs1451194842, rs1317776692, rs759055242, rs2066568818 View all (39 more) |
21911940 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Asthma |
Asthma |
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25918132 |
ClinVar |
Nephrotic Syndrome |
familial idiopathic steroid-resistant nephrotic syndrome |
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GenCC |
Hypertension |
Hypertension |
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GWAS |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
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GWAS, CBGDA |
Diabetes |
Diabetes |
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GWAS |
Dementia |
Dementia |
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GWAS |
Glioblastoma |
Glioblastoma |
CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 |
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GWAS, CBGDA |
Renal Carcinoma |
Renal Carcinoma |
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GWAS |
Atrial Fibrillation |
Atrial Fibrillation |
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GWAS |
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