ARHGAP24 (Rho GTPase activating protein 24)

Gene

• Entrez ID: 83478
• Gene name: Rho GTPase activating protein 24
• Gene symbol: ARHGAP24
• Synonyms: FILGAP, RC-GAP72, RCGAP72, p73, p73RhoGAP
• 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

SNPs

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

miRNA

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
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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0005096	Function	GTPase activator activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16862148, 17500595
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005925	Component	Focal adhesion	IBA	21873635
GO:0007165	Process	Signal transduction	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0035021	Process	Negative regulation of Rac protein signal transduction	IBA	21873635
GO:0035313	Process	Wound healing, spreading of epidermal cells	IBA	21873635
GO:0042995	Component	Cell projection	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0090630	Process	Activation of GTPase activity	IBA	21873635
GO:1900028	Process	Negative regulation of ruffle assembly	IBA	21873635

Other IDs

• MIM: 610586
• HGNC: 25361
• e!Ensembl: 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

• Sequence:

  MEENNDSTENPQQGQGRQNAIKCGWLRKQGGFVKTWHTRWFVLKGDQLYYFKDEDETKPL
  GTIFLPGNKVSEHPCNEENPGKFLFEVVPGGDRDRMTANHESYLLMASTQNDMEDWVKSI
  RRVIWGPFGGGIFGQKLEDTVRYEKRYGNRLAPMLVEQCVDFIRQRGLKEEGLFRLPGQA
  NLVKELQDAFDCGEKPSFDSNTDVHTVASLLKLYLRELPEPVIPYAKYEDFLSCAKLLSK
  EEEAGVKELAKQVKSLPVVNYNLLKYICRFLDEVQSYSGVNKMSVQNLATVFGPNILRPK
  VEDPLTIMEGTVVVQQLMSVMISKHDCLFPKDAELQSKPQDGVSNNNEIQKKATMGQLQN
  KENNNTKDSPSRQCSWDKSESPQRSSMNNGSPTALSGSKTNSPKNSVHKLDVSRSPPLMV
  KKNPAFNKGSGIVTNGSFSSSNAEGLEKTQTTPNGSLQARRSSSLKVSGTKMGTHSVQNG
  TVRMGILNSDTLGNPTNVRNMSWLPNGYVTLRDNKQKEQAGELGQHNRLSTYDNVHQQFS
  MMNLDDKQSIDSATWSTSSCEISLPENSNSCRSSTTTCPEQDFFGGNFEDPVLDGPPQDD
  LSHPRDYESKSDHRSVGGRSSRATSSSDNSETFVGNSSSNHSALHSLVSSLKQEMTKQKI
  EYESRIKSLEQRNLTLETEMMSLHDELDQERKKFTMIEIKMRNAERAKEDAEKRNDMLQK
  EMEQFFSTFGELTVEPRRTERGNTIWIQ

• Sequence length: 748

Pathways

Reactome:

Rho GTPase cycle

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	25918132
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, rs1569534160, rs1589475328, rs912928648, rs79555199, rs1595166085, rs1596351849, rs1596861969, rs1595163730, rs1588200023, rs779586424, rs759356936, rs1451194842, rs1317776692, rs759055242, rs2066568818	21911940

Unknown
Disease name	Disease term	dbSNP ID	References
Genetic steroid-resistant nephrotic syndrome	Genetic steroid-resistant nephrotic syndrome
Glomerulosclerosis	Focal glomerulosclerosis		21911940
Nephritis	NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE		21911940