Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	83478
Gene name	Rho GTPase activating protein 24
Gene symbol	ARHGAP24
Synonyms (NCBI Gene)	FILGAPRC-GAP72RCGAP72p73p73RhoGAP
Chromosome	4
Chromosome location	4q21.23-q21.3
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs200213078	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant

Show/Hide all (55)

miRTarBase ID	miRNA	Experiments	Reference
MIRT755415	hsa-miR-21-5p	Luciferase reporter assayWestern blottingMicroarrayqRT-PCRImmunohistochemistry (IHC)In situ hybridization	35812178
MIRT755554	hsa-miR-145-5p	Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)Immunofluorescence	34729245
MIRT794129	hsa-miR-1276	CLIP-seq
MIRT794130	hsa-miR-338-3p	CLIP-seq
MIRT794131	hsa-miR-4311	CLIP-seq
MIRT794132	hsa-miR-4530	CLIP-seq
MIRT794133	hsa-miR-4659a-3p	CLIP-seq
MIRT794134	hsa-miR-4659b-3p	CLIP-seq
MIRT794135	hsa-miR-4746-5p	CLIP-seq
MIRT794136	hsa-miR-4799-5p	CLIP-seq
MIRT794137	hsa-miR-522	CLIP-seq
MIRT794138	hsa-miR-583	CLIP-seq
MIRT794139	hsa-miR-1343	CLIP-seq
MIRT794140	hsa-miR-4299	CLIP-seq
MIRT1934343	hsa-miR-25	CLIP-seq
MIRT1934344	hsa-miR-3125	CLIP-seq
MIRT1934345	hsa-miR-32	CLIP-seq
MIRT1934346	hsa-miR-363	CLIP-seq
MIRT1934347	hsa-miR-367	CLIP-seq
MIRT1934348	hsa-miR-3916	CLIP-seq
MIRT1934349	hsa-miR-4795-3p	CLIP-seq
MIRT1934350	hsa-miR-92a	CLIP-seq
MIRT1934351	hsa-miR-92b	CLIP-seq
MIRT2174154	hsa-miR-1179	CLIP-seq
MIRT2174155	hsa-miR-1263	CLIP-seq
MIRT2174156	hsa-miR-1273f	CLIP-seq
MIRT2174157	hsa-miR-194	CLIP-seq
MIRT2174158	hsa-miR-214	CLIP-seq
MIRT2174159	hsa-miR-3115	CLIP-seq
MIRT2174160	hsa-miR-3173-3p	CLIP-seq
MIRT2174161	hsa-miR-3619-5p	CLIP-seq
MIRT2174162	hsa-miR-3675-5p	CLIP-seq
MIRT2174163	hsa-miR-3919	CLIP-seq
MIRT2174164	hsa-miR-410	CLIP-seq
MIRT2174165	hsa-miR-4253	CLIP-seq
MIRT2174166	hsa-miR-4263	CLIP-seq
MIRT2174167	hsa-miR-4428	CLIP-seq
MIRT2174168	hsa-miR-4464	CLIP-seq
MIRT2174169	hsa-miR-4481	CLIP-seq
MIRT2174170	hsa-miR-4521	CLIP-seq
MIRT2174171	hsa-miR-4643	CLIP-seq
MIRT2174172	hsa-miR-4645-3p	CLIP-seq
MIRT2174173	hsa-miR-4658	CLIP-seq
MIRT2174174	hsa-miR-466	CLIP-seq
MIRT2174175	hsa-miR-4690-5p	CLIP-seq
MIRT2174176	hsa-miR-4745-5p	CLIP-seq
MIRT2174177	hsa-miR-4748	CLIP-seq
MIRT2174178	hsa-miR-4756-3p	CLIP-seq
MIRT2174179	hsa-miR-4758-5p	CLIP-seq
MIRT2174180	hsa-miR-4789-3p	CLIP-seq
MIRT794136	hsa-miR-4799-5p	CLIP-seq
MIRT2174181	hsa-miR-486-3p	CLIP-seq
MIRT2174182	hsa-miR-576-5p	CLIP-seq
MIRT2174183	hsa-miR-761	CLIP-seq
MIRT2174184	hsa-miR-9	CLIP-seq

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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
GO:0005856	Component	Cytoskeleton	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005925	Component	Focal adhesion	IBA
GO:0005925	Component	Focal adhesion	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0035021	Process	Negative regulation of Rac protein signal transduction	IBA
GO:0035313	Process	Wound healing, spreading of epidermal cells	IBA
GO:0042995	Component	Cell projection	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:1900028	Process	Negative regulation of ruffle assembly	IBA

MIM	HGNC	e!Ensembl
610586	25361	ENSG00000138639

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
RRVIWGPFGGGIFGQKLEDTVRYEKRYGNRLAPMLVEQCVDFIRQRGLKEEGLFRLPGQA
NLVKELQDAFDCGEKPSFDSNTDVHTVASLLKLYLRELPEPVIPYAKYEDFLSCAKLLSK
EEEAGVKELAKQVKSLPVVNYNLLKYICRFLDEVQSYSGVNKMSVQNLATVFGPNILRPK
VEDPLTIMEGTVVVQQLMSVMISKHDCLFPKDAELQSKPQDGVSNNNEIQKKATMGQLQN
KENNNTKDSPSRQCSWDKSESPQRSSMNNGSPTALSGSKTNSPKNSVHKLDVSRSPPLMV
KKNPAFNKGSGIVTNGSFSSSNAEGLEKTQTTPNGSLQARRSSSLKVSGTKMGTHSVQNG
TVRMGILNSDTLGNPTNVRNMSWLPNGYVTLRDNKQKEQAGELGQHNRLSTYDNVHQQFS
MMNLDDKQSIDSATWSTSSCEISLPENSNSCRSSTTTCPEQDFFGGNFEDPVLDGPPQDD
LSHPRDYESKSDHRSVGGRSSRATSSSDNSETFVGNSSSNHSALHSLVSSLKQEMTKQKI
EYESRIKSLEQRNLTLETEMMSLHDELDQERKKFTMIEIKMRNAERAKEDAEKRNDMLQK
EMEQFFSTFGELTVEPRRTERGNTIWIQ

Sequence length

748

Interactions

View interactions

	Reactome
			Rho GTPase cycle

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ARHGAP24-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs147870358, rs115836717, rs138513531, rs140938117, rs777612257, rs146311467, rs375963145, rs74779744, rs116199632, rs763554131, rs760378697, rs112475438, rs1740539415, rs1396995920, rs2546176680 View all (8 more)	RCV003941119 RCV003931333 RCV003407949 RCV003903508 RCV003896226 RCV003898543 RCV003963396 RCV003926512 RCV003898628 RCV003943641 RCV004747235 RCV003947686 RCV003404221 RCV003420725 RCV003412411 RCV004747304 RCV003919342 RCV003904325 RCV003944087 RCV003952120 RCV003951748 RCV003934785 RCV003922777
Cholangiocarcinoma	Benign	rs11367691	RCV005868275
Colon adenocarcinoma	Uncertain significance	rs759004152	RCV005926533
Focal segmental glomerulosclerosis	Uncertain significance	rs2148825242	RCV001801294
Focal segmental glomerulosclerosis 1	Uncertain significance	rs143423680	RCV000625671
Nephrotic syndrome	Uncertain significance	rs776254762	RCV001328239
Thyroid cancer, nonmedullary, 1	Benign	rs149943050	RCV005926572

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Kidney Neoplasms	Associate	30499465
Lung Neoplasms	Inhibit	30599132
Lymphoma B Cell	Associate	25641953
Lymphoma Follicular	Associate	25641953
Lymphoma Large B Cell Diffuse	Associate	25641953
Neoplasms	Associate	23097497, 27790861, 30499465, 38065968
Neoplasms	Inhibit	36168627
Pseudomyxoma Peritonei	Associate	25929336

ARHGAP24 (Rho GTPase activating protein 24)