ARHGAP9 (Rho GTPase activating protein 9)

Gene

• Entrez ID: 64333
• Gene name: Rho GTPase activating protein 9
• Gene symbol: ARHGAP9
• Synonyms (NCBI Gene): 10C, RGL1
• Chromosome: 12
• Chromosome location: 12q13.3
• Summary: This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion o

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT626500	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT626499	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT626500	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT626499	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT795054	hsa-miR-1236	CLIP-seq
MIRT795055	hsa-miR-2110	CLIP-seq
MIRT795056	hsa-miR-3150a-3p	CLIP-seq
MIRT795057	hsa-miR-3175	CLIP-seq
MIRT795058	hsa-miR-4307	CLIP-seq
MIRT795059	hsa-miR-4753-3p	CLIP-seq
MIRT795060	hsa-miR-4768-5p	CLIP-seq
MIRT795061	hsa-miR-4778-3p	CLIP-seq
MIRT795062	hsa-miR-939	CLIP-seq
MIRT2443927	hsa-miR-4469	CLIP-seq
MIRT2443928	hsa-miR-4733-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	11396949
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IDA	17339315
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IBA
GO:0008289	Function	Lipid binding	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

Other IDs

• MIM: 610576
• HGNC: 14130
• e!Ensembl: ENSG00000123329

Protein

• UniProt ID: Q9BRR9
• Protein name: Rho GTPase-activating protein 9 (Rho-type GTPase-activating protein 9)
• Protein function: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has a substantial GAP activity toward CDC42 and RAC1 and less toward RHOA. Has a role in regulating adhesion of hematopoietic cells to the extracellular
• PDB: 2P0D, 2P0F, 2P0H
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00018	SH3_1	28 → 70	SH3 domain	Domain
  PF00169	PH	323 → 435	PH domain	Domain
  PF00620	RhoGAP	556 → 726	RhoGAP domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in peripheral blood leukocytes, spleen, and thymus. {ECO:0000269|PubMed:11396949}.
• Sequence:

  MLSSRWWPSSWGILGLGPRSPPRGSQLCALYAFTYTGADGQQVSLAEGDRFLLLRKTNSD
  WWLARRLEAPSTSRPIFVPAAYMIEESIPSQSPTTVIPGQLLWTPGPKLFHGSLEELSQA
  LPSRAQASSEQPPPLPRKMCRSVSTDNLSPSLLKPFQEGPSGRSLSQEDLPSEASASTAG
  PQPLMSEPPVYCNLVDLRRCPRSPPPGPACPLLQRLDAWEQHLDPNSGRCFYINSLTGCK
  SWKPPRRSRSETNPGSMEGTQTLKRNNDVLQPQAKGFRSDTGTPEPLDPQGSLSLSQRTS
  QLDPPALQAPRPLPQLLDDPHEVEKSGLLNMTKIAQGGRKLRKNWGPSWVVLTGNSLVFY
  REPPPTAPSSGWGPAGSRPESSVDLRGAALAHGRHLSSRRNVLHIRTIPGHEFLLQSDHE
  TELRAWHRALRTVIERLVRWVEARREAPTGRDQGSGDRENPLELRLSGSGPAELSAGEDE
  EEESELVSKPLLRLSSRRSSIRGPEGTEQNRVRNKLKRLIAKRPPLQSLQERGLLRDQVF
  GCQLESLCQREGDTVPSFLRLCIAAVDKRGLDVDGIYRVSGNLAVVQKLRFLVDRERAVT
  SDGRYVFPEQPGQEGRLDLDSTEWDDIHVVTGALKLFLRELPQPLVPPLLLPHFRAALAL
  SESEQCLSQIQELIGSMPKPNHDTLRYLLEHLCRVIAHSDKNRMTPHNLGIVFGPTLFRP
  EQETSDPAAHALYPGQLVQLMLTNFTSLFP

• Sequence length: 750

Pathways

Reactome:

Rho GTPase cycle
Neutrophil degranulation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary artery spasm 3, susceptibility to	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY VASOSPASM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY VASOSPASM	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma of Lung	Inhibit	35040754	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Stimulate	39465715	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	35185876	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Stimulate	33579308	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Stimulate	39465715	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	33579308, 35185876	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	39465715	★☆☆☆☆ Found in Text Mining only
Obesity	Associate	24058506	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Stimulate	28949383	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Associate	32143590	★☆☆☆☆ Found in Text Mining only