Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83478
Gene name Gene Name - the full gene name approved by the HGNC.
Rho GTPase activating protein 24
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARHGAP24
Synonyms (NCBI Gene) Gene synonyms aliases
FILGAP, RC-GAP72, RCGAP72, p73, p73RhoGAP
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q21.23-q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs200213078 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT755415 hsa-miR-21-5p Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, Immunohistochemistry (IHC), In situ hybridization 35812178
MIRT755554 hsa-miR-145-5p Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), Immunofluorescence 34729245
MIRT794129 hsa-miR-1276 CLIP-seq
MIRT794130 hsa-miR-338-3p CLIP-seq
MIRT794131 hsa-miR-4311 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 16862148, 17500595
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610586 25361 ENSG00000138639
Protein
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 RhoGAP 153 304 RhoGAP domain Domain
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
MEENNDSTENPQQGQGRQNAIKCGWLRKQGGFVKTWHTRWFVLKGDQLYYFKDEDETKPL
GTIFLPGNKVSEHPCNEENPGKFLFEVVPGGDRDRMTANHESYLLMASTQNDMEDWVKSI
RRVI
WGPFGGGIFGQKLEDTVRYEKRYGNRLAPMLVEQCVDFIRQRGLKEEGLFRLPGQA
NLVKELQDAFDCGEKPSFDSNTDVHTVASLLKLYLRELPEPVIPYAKYEDFLSCAKLLSK
EEEAGVKELAKQVKSLPVVNYNLLKYICRFLDEVQSYSGVNKMSVQNLATVFGPNILRPK
VEDP
LTIMEGTVVVQQLMSVMISKHDCLFPKDAELQSKPQDGVSNNNEIQKKATMGQLQN
KENNNTKDSPSRQCSWDKSESPQRSSMNNGSPTALSGSKTNSPKNSVHKLDVSRSPPLMV
KKNPAFNKGSGIVTNGSFSSSNAEGLEKTQTTPNGSLQARRSSSLKVSGTKMGTHSVQNG
TVRMGILNSDTLGNPTNVRNMSWLPNGYVTLRDNKQKEQAGELGQHNRLSTYDNVHQQFS
MMNLDDKQSIDSATWSTSSCEISLPENSNSCRSSTTTCPEQDFFGGNFEDPVLDGPPQDD
LSHPRDYESKSDHRSVGGRSSRATSSSDNSETFVGNSSSNHSALHSLVSSLKQEMTKQKI
EYESRIKSLEQRNLTLETEMMSLHDELDQERKKFTMIEIKMRNAERAKEDAEKRNDMLQK
EMEQFFSTFGELTVEPRRTERGNTIWIQ
Sequence length 748
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Rho GTPase cycle
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Diabetes Mild age-related type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Astrocytoma Associate 27790861
Autism Spectrum Disorder Associate 23032108
Breast Neoplasms Associate 23097497
Breast Neoplasms Inhibit 30499465
Carcinoma Hepatocellular Inhibit 36168627
Diabetic Nephropathies Associate 33414249
Esophageal Neoplasms Associate 33463006
Glioblastoma Associate 27790861
Glioma Associate 27790861, 38065968
Glomerulosclerosis Focal Segmental Associate 33414249