ARHGAP6 (Rho GTPase activating protein 6)

Gene

• Entrez ID: 395
• Gene name: Rho GTPase activating protein 6
• Gene symbol: ARHGAP6
• Synonyms (NCBI Gene): RHOGAP6, RHOGAPX-1
• Chromosome: X
• Chromosome location: Xp22.2
• Summary: This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-ac

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT638978	hsa-miR-369-3p	HITS-CLIP	23824327
MIRT638977	hsa-miR-5692b	HITS-CLIP	23824327
MIRT638976	hsa-miR-5692c	HITS-CLIP	23824327
MIRT638975	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT638974	hsa-miR-374c-5p	HITS-CLIP	23824327
MIRT638973	hsa-miR-655-3p	HITS-CLIP	23824327
MIRT638972	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT638971	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT638970	hsa-miR-623	HITS-CLIP	23824327
MIRT638969	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT638968	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT638967	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT638966	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT638965	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT638978	hsa-miR-369-3p	HITS-CLIP	23824327
MIRT638977	hsa-miR-5692b	HITS-CLIP	23824327
MIRT638976	hsa-miR-5692c	HITS-CLIP	23824327
MIRT638975	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT638974	hsa-miR-374c-5p	HITS-CLIP	23824327
MIRT638973	hsa-miR-655-3p	HITS-CLIP	23824327
MIRT638972	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT638971	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT638970	hsa-miR-623	HITS-CLIP	23824327
MIRT638969	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT638968	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT638967	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT638966	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT638965	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT756475	hsa-miR-96-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34338998
MIRT795014	hsa-miR-1207-3p	CLIP-seq
MIRT795015	hsa-miR-186	CLIP-seq
MIRT795016	hsa-miR-3148	CLIP-seq
MIRT795017	hsa-miR-4646-5p	CLIP-seq
MIRT795018	hsa-miR-4668-5p	CLIP-seq
MIRT795019	hsa-miR-4712-5p	CLIP-seq
MIRT795020	hsa-miR-770-5p	CLIP-seq
MIRT795021	hsa-miR-1257	CLIP-seq
MIRT795022	hsa-miR-3611	CLIP-seq
MIRT795023	hsa-miR-4753-3p	CLIP-seq
MIRT795024	hsa-miR-4768-5p	CLIP-seq
MIRT795025	hsa-miR-758	CLIP-seq
MIRT795017	hsa-miR-4646-5p	CLIP-seq
MIRT2174529	hsa-miR-1238	CLIP-seq
MIRT2174530	hsa-miR-1271	CLIP-seq
MIRT2174531	hsa-miR-182	CLIP-seq
MIRT2174532	hsa-miR-595	CLIP-seq
MIRT2174533	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	10699171
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	NAS	10699171
GO:0007015	Process	Actin filament organization	IBA
GO:0007015	Process	Actin filament organization	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007266	Process	Rho protein signal transduction	NAS	10699171
GO:0007266	Process	Rho protein signal transduction	TAS	9417914
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0015629	Component	Actin cytoskeleton	ISS	10699171
GO:0016004	Function	Phospholipase activator activity	IDA	18434237
GO:0017124	Function	SH3 domain binding	IEA
GO:0030041	Process	Actin filament polymerization	NAS	10699171
GO:0043274	Function	Phospholipase binding	IPI	18434237
GO:0048041	Process	Focal adhesion assembly	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051497	Process	Negative regulation of stress fiber assembly	IMP	10699171
GO:0051895	Process	Negative regulation of focal adhesion assembly	IMP	10699171
GO:0072686	Component	Mitotic spindle	IDA
GO:0141214	Process	Positive regulation of phospholipase C/protein kinase C signal transduction	IDA	18434237
GO:1902533	Process	Positive regulation of intracellular signal transduction	IEA

Other IDs

• MIM: 300118
• HGNC: 676
• e!Ensembl: ENSG00000047648

Protein

• UniProt ID: O43182
• Protein name: Rho GTPase-activating protein 6 (Rho-type GTPase-activating protein 6) (Rho-type GTPase-activating protein RhoGAPX-1)
• Protein function: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of cytoplasmic processes during cell
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00620	RhoGAP	411 → 572	RhoGAP domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in kidney, heart and skeletal muscle followed by retina, lymphoblast, placenta, lung, brain, pancreas and liver.
• Sequence:

  MSAQSLLHSVFSCSSPASSSAASAKGFSKRKLRQTRSLDPALIGGCGSDEAGAEGSARGA
  TAGRLYSPSLPAESLGPRLASSSRGPPPRATRLPPPGPLCSSFSTPSTPQEKSPSGSFHF
  DYEVPLGRGGLKKSMAWDLPSVLAGPASSRSASSILCSSGGGPNGIFASPRRWLQQRKFQ
  SPPDSRGHPYVVWKSEGDFTWNSMSGRSVRLRSVPIQSLSELERARLQEVAFYQLQQDCD
  LSCQITIPKDGQKRKKSLRKKLDSLGKEKNKDKEFIPQAFGMPLSQVIANDRAYKLKQDL
  QRDEQKDASDFVASLLPFGNKRQNKELSSSNSSLSSTSETPNESTSPNTPEPAPRARRRG
  AMSVDSITDLDDNQSRLLEALQLSLPAEAQSKKEKARDKKLSLNPIYRQVPRLVDSCCQH
  LEKHGLQTVGIFRVGSSKKRVRQLREEFDRGIDVSLEEEHSVHDVAALLKEFLRDMPDPL
  LTRELYTAFINTLLLEPEEQLGTLQLLIYLLPPCNCDTLHRLLQFLSIVARHADDNISKD
  GQEVTGNKMTSLNLATIFGPNLLHKQKSSDKEFSVQSSARAEESTAIIAVVQKMIENYEA
  LFMVPPDLQNEVLISLLETDPDVVDYLLRRKASQSSSPDMLQSEVSFSVGGRHSSTDSNK
  ASSGDISPYDNNSPVLSERSLLAMQEDAAPGGSEKLYRVPGQFMLVGHLSSSKSRESSPG
  PRLGKDLSEEPFDIWGTWHSTLKSGSKDPGMTGSSGDIFESSSLRAGPCSLSQGNLSPNW
  PRWQGSPAELDSDTQGARRTQAAAPATEGRAHPAVSRACSTPHVQVAGKAERPTARSEQY
  LTLSGAHDLSESELDVAGLQSRATPQCQRPHGSGRDDKRPPPPYPGPGKPAAAAAWIQGP
  PEGVETPTDQGGQAAEREQQVTQKKLSSANSLPAGEQDSPRLGDAGWLDWQRERWQIWEL
  LSTDNPDALPETLV

• Sequence length: 974

Pathways

Reactome:

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	Evidence Score
AMELOGENESIS IMPERFECTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARHGAP6-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	23251683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth	Amelogenesis Imperfecta	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	Pubtator	27124303	Associate	★☆☆☆☆ Found in Text Mining only
Aniridia cerebellar ataxia mental deficiency	Aniridia-cerebellar ataxia-intellectual disability syndrome	Pubtator	27124303	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30518319	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30816546		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19960375, 22276153	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	18434237		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30816546		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	10699171, 12900578, 9417914		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30909962	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30816546		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	CTD_human_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	29892016		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28351298	Associate	★☆☆☆☆ Found in Text Mining only