ARHGAP17 (Rho GTPase activating protein 17)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 55114
• Gene name: Rho GTPase activating protein 17
• Gene symbol: ARHGAP17
• Synonyms (NCBI Gene): MST066, MST110, MSTP038, MSTP066, MSTP110, NADRIN, PP367, PP4534, RICH-1, RICH1, WBP15
• Chromosome: 16
• Chromosome location: 16p12.1
• Summary: RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]

miRNA Show/Hide all (63)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032476	hsa-let-7b-5p	Proteomics	18668040
MIRT050323	hsa-miR-25-3p	CLASH	23622248
MIRT044803	hsa-miR-320a	CLASH	23622248
MIRT042883	hsa-miR-324-3p	CLASH	23622248
MIRT441202	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441202	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT793872	hsa-miR-1297	CLIP-seq
MIRT793873	hsa-miR-181a	CLIP-seq
MIRT793874	hsa-miR-181b	CLIP-seq
MIRT793875	hsa-miR-181c	CLIP-seq
MIRT793876	hsa-miR-181d	CLIP-seq
MIRT793877	hsa-miR-214	CLIP-seq
MIRT793878	hsa-miR-26a	CLIP-seq
MIRT793879	hsa-miR-26b	CLIP-seq
MIRT793880	hsa-miR-3120-5p	CLIP-seq
MIRT793881	hsa-miR-3150a-3p	CLIP-seq
MIRT793882	hsa-miR-3175	CLIP-seq
MIRT793883	hsa-miR-3184	CLIP-seq
MIRT793884	hsa-miR-3199	CLIP-seq
MIRT793885	hsa-miR-337-3p	CLIP-seq
MIRT793886	hsa-miR-3618	CLIP-seq
MIRT793887	hsa-miR-3619-5p	CLIP-seq
MIRT793888	hsa-miR-3622b-5p	CLIP-seq
MIRT793889	hsa-miR-3908	CLIP-seq
MIRT793890	hsa-miR-3942-5p	CLIP-seq
MIRT793891	hsa-miR-3945	CLIP-seq
MIRT793892	hsa-miR-423-5p	CLIP-seq
MIRT793893	hsa-miR-4253	CLIP-seq
MIRT793894	hsa-miR-4262	CLIP-seq
MIRT793895	hsa-miR-4274	CLIP-seq
MIRT793896	hsa-miR-4275	CLIP-seq
MIRT793897	hsa-miR-4291	CLIP-seq
MIRT793898	hsa-miR-4303	CLIP-seq
MIRT793899	hsa-miR-4304	CLIP-seq
MIRT793900	hsa-miR-4465	CLIP-seq
MIRT793901	hsa-miR-4515	CLIP-seq
MIRT793902	hsa-miR-4530	CLIP-seq
MIRT793903	hsa-miR-4649-3p	CLIP-seq
MIRT793904	hsa-miR-4652-3p	CLIP-seq
MIRT793905	hsa-miR-4652-5p	CLIP-seq
MIRT793906	hsa-miR-4667-5p	CLIP-seq
MIRT793907	hsa-miR-4700-5p	CLIP-seq
MIRT793908	hsa-miR-4703-5p	CLIP-seq
MIRT793909	hsa-miR-4704-3p	CLIP-seq
MIRT793910	hsa-miR-4746-5p	CLIP-seq
MIRT793911	hsa-miR-4766-3p	CLIP-seq
MIRT793912	hsa-miR-4787-3p	CLIP-seq
MIRT793913	hsa-miR-516a-3p	CLIP-seq
MIRT793914	hsa-miR-562	CLIP-seq
MIRT793915	hsa-miR-761	CLIP-seq
MIRT793916	hsa-miR-922	CLIP-seq
MIRT793917	hsa-miR-934	CLIP-seq
MIRT793918	hsa-miR-939	CLIP-seq
MIRT2174107	hsa-miR-145	CLIP-seq
MIRT793877	hsa-miR-214	CLIP-seq
MIRT793887	hsa-miR-3619-5p	CLIP-seq
MIRT793888	hsa-miR-3622b-5p	CLIP-seq
MIRT793895	hsa-miR-4274	CLIP-seq
MIRT793899	hsa-miR-4304	CLIP-seq
MIRT793902	hsa-miR-4530	CLIP-seq
MIRT793909	hsa-miR-4704-3p	CLIP-seq
MIRT2174108	hsa-miR-542-3p	CLIP-seq
MIRT793915	hsa-miR-761	CLIP-seq

Gene ontology (GO) Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	21481793, 25416956, 28514442, 32296183, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0016020	Component	Membrane	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0035020	Process	Regulation of Rac protein signal transduction	IBA
GO:0051058	Process	Negative regulation of small GTPase mediated signal transduction	IBA
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 608293
• HGNC: 18239
• e!Ensembl: ENSG00000140750

Protein

• UniProt ID: Q68EM7
• Protein name: Rho GTPase-activating protein 17 (Rho-type GTPase-activating protein 17) (RhoGAP interacting with CIP4 homologs protein 1) (RICH-1)
• Protein function: Rho GTPase-activating protein involved in the maintenance of tight junction by regulating the activity of CDC42, thereby playing a central role in apical polarity of epithelial cells. Specifically acts as a GTPase activator for the CDC42 GTPase
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00620	RhoGAP	266 → 416	RhoGAP domain	Domain
  PF03114	BAR	1 → 239	BAR domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. Expressed at higher level in heart and placenta. {ECO:0000269|PubMed:11431473}.
• Sequence:

  MKKQFNRMKQLANQTVGRAEKTEVLSEDLLQIERRLDTVRSICHHSHKRLVACFQGQHGT
  DAERRHKKLPLTALAQNMQEASTQLEDSLLGKMLETCGDAENQLALELSQHEVFVEKEIV
  DPLYGIAEVEIPNIQKQRKQLARLVLDWDSVRARWNQAHKSSGTNFQGLPSKIDTLKEEM
  DEAGNKVEQCKDQLAADMYNFMAKEGEYGKFFVTLLEAQADYHRKALAVLEKTLPEMRAH
  QDKWAEKPAFGTPLEEHLKRSGREIALPIEACVMLLLETGMKEEGLFRIGAGASKLKKLK
  AALDCSTSHLDEFYSDPHAVAGALKSYLRELPEPLMTFNLYEEWTQVASVQDQDKKLQDL
  WRTCQKLPPQNFVNFRYLIKFLAKLAQTSDVNKMTPSNIAIVLGPNLLWARNEGTLAEMA
  AATSVHVVAVIEPIIQHADWFFPEEVEFNVSEAFVPLTTPSSNHSFHTGNDSDSGTLERK
  RPASMAVMEGDLVKKESFGVKLMDFQAHRRGGTLNRKHISPAFQPPLPPTDGSTVVPAGP
  EPPPQSSRAESSSGGGTVPSSAGILEQGPSPGDGSPPKPKDPVSAAVPAPGRNNSQIASG
  QNQPQAAAGSHQLSMGQPHNAAGPSPHTLRRAVKKPAPAPPKPGNPPPGHPGGQSSSGTS
  QHPPSLSPKPPTRSPSPPTQHTGQPPGQPSAPSQLSAPRRYSSSLSPIQAPNHPPPQPPT
  QATPLMHTKPNSQGPPNPMALPSEHGLEQPSHTPPQTPTPPSTPPLGKQNPSLPAPQTLA
  GGNPETAQPHAGTLPRPRPVPKPRNRPSVPPPPQPPGVHSAGDSSLTNTAPTASKIVTDS
  NSRVSEPHRSIFPEMHSDSASKDVPGRILLDIDNDTESTAL

• Sequence length: 881

Pathways

KEGG Pathway:

Tight junction

Reactome Pathway:

Rho GTPase cycle

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	Reference	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	40050429	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	33462484, 39406924	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	34353775	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (14)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	29971782		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29971782	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35064101	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29730655	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30641218		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30641218		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29730655		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29730655	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	29730655	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29971782		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29730655		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30641218		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29730655		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29730655, 30641218		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ARHGEF18 2 shared pathwaysTight junction, Rho GTPase cycle Related via 2 shared pathways including Tight junction, Rho GTPase cycle. ARHGEF2 2 shared pathwaysTight junction, Rho GTPase cycle Related via 2 shared pathways including Tight junction, Rho GTPase cycle. TIAM1 2 shared pathwaysTight junction, Rho GTPase cycle Related via 2 shared pathways including Tight junction, Rho GTPase cycle. CDC42 2 shared pathwaysTight junction, Rho GTPase cycle Related via 2 shared pathways including Tight junction, Rho GTPase cycle. RHOA 2 shared pathwaysTight junction, Rho GTPase cycle Related via 2 shared pathways including Tight junction, Rho GTPase cycle.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ARHGEF18	0	[]	2	["Tight junction","Rho GTPase cycle"]	0	[]
ARHGEF2	0	[]	2	["Tight junction","Rho GTPase cycle"]	0	[]
TIAM1	0	[]	2	["Tight junction","Rho GTPase cycle"]	0	[]
CDC42	0	[]	2	["Tight junction","Rho GTPase cycle"]	0	[]
RHOA	0	[]	2	["Tight junction","Rho GTPase cycle"]	0	[]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 3 of 5 related genesARHGEF2, TIAM1, RHOA Neurodevelopmental disorder Linked via 3 of 5 related genesARHGEF2, TIAM1, CDC42 Amyotrophic lateral sclerosis Linked via 2 of 5 related genesARHGEF2, TIAM1 Attention deficit hyperactivity disorder Linked via 2 of 5 related genesCDC42, RHOA Autism Linked via 2 of 5 related genesCDC42, RHOA

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	3	["ARHGEF2","TIAM1","RHOA"]
Neurodevelopmental disorder	3	["ARHGEF2","TIAM1","CDC42"]
Amyotrophic lateral sclerosis	2	["ARHGEF2","TIAM1"]
Attention deficit hyperactivity disorder	2	["CDC42","RHOA"]
Autism	2	["CDC42","RHOA"]