ARHGAP21 (Rho GTPase activating protein 21)

Gene

• Entrez ID: 57584
• Gene name: Rho GTPase activating protein 21
• Gene symbol: ARHGAP21
• Synonyms (NCBI Gene): ARHGAP10
• Chromosome: 10
• Chromosome location: 10p12.1|10p12.3
• Summary: ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[suppli

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1060499743	A>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017485	hsa-miR-335-5p	Microarray	18185580
MIRT030816	hsa-miR-21-5p	Microarray	18591254
MIRT047126	hsa-miR-183-5p	CLASH	23622248
MIRT038266	hsa-miR-361-3p	CLASH	23622248
MIRT515398	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT515397	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT515396	hsa-miR-3182	HITS-CLIP	21572407
MIRT515395	hsa-miR-2116-5p	HITS-CLIP	21572407
MIRT515394	hsa-miR-22-5p	HITS-CLIP	21572407
MIRT515393	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT515392	hsa-miR-4677-5p	HITS-CLIP	21572407
MIRT515391	hsa-miR-4659a-3p	HITS-CLIP	21572407
MIRT515390	hsa-miR-4659b-3p	HITS-CLIP	21572407
MIRT515398	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT515397	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515396	hsa-miR-3182	PAR-CLIP	21572407
MIRT515395	hsa-miR-2116-5p	PAR-CLIP	21572407
MIRT515394	hsa-miR-22-5p	PAR-CLIP	21572407
MIRT515393	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515392	hsa-miR-4677-5p	PAR-CLIP	21572407
MIRT515391	hsa-miR-4659a-3p	PAR-CLIP	21572407
MIRT515390	hsa-miR-4659b-3p	PAR-CLIP	21572407
MIRT515398	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT515397	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515396	hsa-miR-3182	PAR-CLIP	23446348
MIRT515395	hsa-miR-2116-5p	PAR-CLIP	23446348
MIRT515394	hsa-miR-22-5p	PAR-CLIP	23446348
MIRT515393	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT515392	hsa-miR-4677-5p	PAR-CLIP	23446348
MIRT515391	hsa-miR-4659a-3p	PAR-CLIP	23446348
MIRT515390	hsa-miR-4659b-3p	PAR-CLIP	23446348
MIRT515398	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT515397	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT515396	hsa-miR-3182	HITS-CLIP	21572407
MIRT515395	hsa-miR-2116-5p	HITS-CLIP	21572407
MIRT515394	hsa-miR-22-5p	HITS-CLIP	21572407
MIRT515393	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT515392	hsa-miR-4677-5p	HITS-CLIP	21572407
MIRT515391	hsa-miR-4659a-3p	HITS-CLIP	21572407
MIRT515390	hsa-miR-4659b-3p	HITS-CLIP	21572407
MIRT515398	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT515397	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515396	hsa-miR-3182	PAR-CLIP	21572407
MIRT515395	hsa-miR-2116-5p	PAR-CLIP	21572407
MIRT515394	hsa-miR-22-5p	PAR-CLIP	21572407
MIRT515393	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515392	hsa-miR-4677-5p	PAR-CLIP	21572407
MIRT515391	hsa-miR-4659a-3p	PAR-CLIP	21572407
MIRT515390	hsa-miR-4659b-3p	PAR-CLIP	21572407
MIRT515398	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT515397	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515396	hsa-miR-3182	PAR-CLIP	23446348
MIRT515395	hsa-miR-2116-5p	PAR-CLIP	23446348
MIRT515394	hsa-miR-22-5p	PAR-CLIP	23446348
MIRT515393	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT515392	hsa-miR-4677-5p	PAR-CLIP	23446348
MIRT515391	hsa-miR-4659a-3p	PAR-CLIP	23446348
MIRT515390	hsa-miR-4659b-3p	PAR-CLIP	23446348
MIRT794076	hsa-miR-149	CLIP-seq
MIRT794077	hsa-miR-186	CLIP-seq
MIRT794078	hsa-miR-2116	CLIP-seq
MIRT794079	hsa-miR-3064-5p	CLIP-seq
MIRT794080	hsa-miR-3133	CLIP-seq
MIRT794081	hsa-miR-4676-5p	CLIP-seq
MIRT794082	hsa-miR-4687-3p	CLIP-seq
MIRT794083	hsa-miR-4742-3p	CLIP-seq
MIRT794084	hsa-miR-4786-3p	CLIP-seq
MIRT794085	hsa-miR-4794	CLIP-seq
MIRT794086	hsa-miR-548aa	CLIP-seq
MIRT794087	hsa-miR-548ac	CLIP-seq
MIRT794088	hsa-miR-548ae	CLIP-seq
MIRT794089	hsa-miR-548aj	CLIP-seq
MIRT794090	hsa-miR-548am	CLIP-seq
MIRT794091	hsa-miR-548d-3p	CLIP-seq
MIRT794092	hsa-miR-548x	CLIP-seq
MIRT794093	hsa-miR-548z	CLIP-seq
MIRT794094	hsa-miR-575	CLIP-seq
MIRT794095	hsa-miR-665	CLIP-seq
MIRT1934312	hsa-miR-1202	CLIP-seq
MIRT1934313	hsa-miR-1228	CLIP-seq
MIRT1934314	hsa-miR-1245	CLIP-seq
MIRT1934315	hsa-miR-1272	CLIP-seq
MIRT1934316	hsa-miR-1322	CLIP-seq
MIRT1934317	hsa-miR-1827	CLIP-seq
MIRT1934318	hsa-miR-300	CLIP-seq
MIRT1934319	hsa-miR-3065-5p	CLIP-seq
MIRT1934320	hsa-miR-3074-3p	CLIP-seq
MIRT1934321	hsa-miR-3194-5p	CLIP-seq
MIRT1934322	hsa-miR-329	CLIP-seq
MIRT1934323	hsa-miR-3606	CLIP-seq
MIRT1934324	hsa-miR-362-3p	CLIP-seq
MIRT1934325	hsa-miR-3668	CLIP-seq
MIRT1934326	hsa-miR-3713	CLIP-seq
MIRT1934327	hsa-miR-381	CLIP-seq
MIRT1934328	hsa-miR-382	CLIP-seq
MIRT1934329	hsa-miR-3941	CLIP-seq
MIRT1934330	hsa-miR-3972	CLIP-seq
MIRT1934331	hsa-miR-4528	CLIP-seq
MIRT1934332	hsa-miR-4661-3p	CLIP-seq
MIRT1934333	hsa-miR-4666-3p	CLIP-seq
MIRT1934334	hsa-miR-4684-3p	CLIP-seq
MIRT794083	hsa-miR-4742-3p	CLIP-seq
MIRT1934335	hsa-miR-4762-5p	CLIP-seq
MIRT1934336	hsa-miR-548a-3p	CLIP-seq
MIRT794086	hsa-miR-548aa	CLIP-seq
MIRT794087	hsa-miR-548ac	CLIP-seq
MIRT794088	hsa-miR-548ae	CLIP-seq
MIRT794089	hsa-miR-548aj	CLIP-seq
MIRT794090	hsa-miR-548am	CLIP-seq
MIRT794091	hsa-miR-548d-3p	CLIP-seq
MIRT1934337	hsa-miR-548e	CLIP-seq
MIRT1934338	hsa-miR-548f	CLIP-seq
MIRT794092	hsa-miR-548x	CLIP-seq
MIRT794093	hsa-miR-548z	CLIP-seq
MIRT1934339	hsa-miR-603	CLIP-seq
MIRT1934340	hsa-miR-642b	CLIP-seq
MIRT794095	hsa-miR-665	CLIP-seq
MIRT1934341	hsa-miR-921	CLIP-seq
MIRT2174138	hsa-miR-1225-5p	CLIP-seq
MIRT1934313	hsa-miR-1228	CLIP-seq
MIRT2174139	hsa-miR-1243	CLIP-seq
MIRT2174140	hsa-miR-1244	CLIP-seq
MIRT2174141	hsa-miR-132	CLIP-seq
MIRT2174142	hsa-miR-194	CLIP-seq
MIRT2174143	hsa-miR-199a-3p	CLIP-seq
MIRT2174144	hsa-miR-199b-3p	CLIP-seq
MIRT2174145	hsa-miR-212	CLIP-seq
MIRT1934319	hsa-miR-3065-5p	CLIP-seq
MIRT2174146	hsa-miR-3129-5p	CLIP-seq
MIRT1934322	hsa-miR-329	CLIP-seq
MIRT1934324	hsa-miR-362-3p	CLIP-seq
MIRT2174147	hsa-miR-3646	CLIP-seq
MIRT2174148	hsa-miR-3654	CLIP-seq
MIRT1934325	hsa-miR-3668	CLIP-seq
MIRT1934328	hsa-miR-382	CLIP-seq
MIRT1934329	hsa-miR-3941	CLIP-seq
MIRT2174149	hsa-miR-4276	CLIP-seq
MIRT1934332	hsa-miR-4661-3p	CLIP-seq
MIRT794081	hsa-miR-4676-5p	CLIP-seq
MIRT1934334	hsa-miR-4684-3p	CLIP-seq
MIRT2174150	hsa-miR-4690-3p	CLIP-seq
MIRT794094	hsa-miR-575	CLIP-seq
MIRT1934339	hsa-miR-603	CLIP-seq
MIRT794095	hsa-miR-665	CLIP-seq
MIRT2384377	hsa-miR-501-3p	CLIP-seq
MIRT2384378	hsa-miR-502-3p	CLIP-seq
MIRT1934340	hsa-miR-642b	CLIP-seq
MIRT2426389	hsa-miR-4320	CLIP-seq
MIRT2426390	hsa-miR-4464	CLIP-seq
MIRT2426391	hsa-miR-4748	CLIP-seq
MIRT1934340	hsa-miR-642b	CLIP-seq
MIRT2426392	hsa-miR-664	CLIP-seq
MIRT2426389	hsa-miR-4320	CLIP-seq
MIRT2426390	hsa-miR-4464	CLIP-seq
MIRT2426391	hsa-miR-4748	CLIP-seq
MIRT1934340	hsa-miR-642b	CLIP-seq
MIRT2426392	hsa-miR-664	CLIP-seq
MIRT2477817	hsa-miR-1178	CLIP-seq
MIRT1934312	hsa-miR-1202	CLIP-seq
MIRT2174138	hsa-miR-1225-5p	CLIP-seq
MIRT1934313	hsa-miR-1228	CLIP-seq
MIRT2174140	hsa-miR-1244	CLIP-seq
MIRT2174141	hsa-miR-132	CLIP-seq
MIRT794077	hsa-miR-186	CLIP-seq
MIRT2174142	hsa-miR-194	CLIP-seq
MIRT2174143	hsa-miR-199a-3p	CLIP-seq
MIRT2174144	hsa-miR-199b-3p	CLIP-seq
MIRT2174145	hsa-miR-212	CLIP-seq
MIRT2477818	hsa-miR-298	CLIP-seq
MIRT1934318	hsa-miR-300	CLIP-seq
MIRT1934319	hsa-miR-3065-5p	CLIP-seq
MIRT1934320	hsa-miR-3074-3p	CLIP-seq
MIRT2174146	hsa-miR-3129-5p	CLIP-seq
MIRT794080	hsa-miR-3133	CLIP-seq
MIRT2477819	hsa-miR-3138	CLIP-seq
MIRT2477820	hsa-miR-3146	CLIP-seq
MIRT2477821	hsa-miR-3149	CLIP-seq
MIRT2477822	hsa-miR-3185	CLIP-seq
MIRT1934321	hsa-miR-3194-5p	CLIP-seq
MIRT2477823	hsa-miR-3200-3p	CLIP-seq
MIRT2477824	hsa-miR-3200-5p	CLIP-seq
MIRT1934322	hsa-miR-329	CLIP-seq
MIRT1934324	hsa-miR-362-3p	CLIP-seq
MIRT1934325	hsa-miR-3668	CLIP-seq
MIRT1934327	hsa-miR-381	CLIP-seq
MIRT1934328	hsa-miR-382	CLIP-seq
MIRT1934329	hsa-miR-3941	CLIP-seq
MIRT1934330	hsa-miR-3972	CLIP-seq
MIRT2174149	hsa-miR-4276	CLIP-seq
MIRT2426389	hsa-miR-4320	CLIP-seq
MIRT2426390	hsa-miR-4464	CLIP-seq
MIRT2477825	hsa-miR-4490	CLIP-seq
MIRT1934331	hsa-miR-4528	CLIP-seq
MIRT1934332	hsa-miR-4661-3p	CLIP-seq
MIRT1934333	hsa-miR-4666-3p	CLIP-seq
MIRT794081	hsa-miR-4676-5p	CLIP-seq
MIRT1934334	hsa-miR-4684-3p	CLIP-seq
MIRT2426391	hsa-miR-4748	CLIP-seq
MIRT1934335	hsa-miR-4762-5p	CLIP-seq
MIRT2477826	hsa-miR-4774-5p	CLIP-seq
MIRT794084	hsa-miR-4786-3p	CLIP-seq
MIRT2477827	hsa-miR-516a-5p	CLIP-seq
MIRT2477828	hsa-miR-568	CLIP-seq
MIRT794094	hsa-miR-575	CLIP-seq
MIRT2477829	hsa-miR-579	CLIP-seq
MIRT1934339	hsa-miR-603	CLIP-seq
MIRT1934340	hsa-miR-642b	CLIP-seq
MIRT2426392	hsa-miR-664	CLIP-seq
MIRT794095	hsa-miR-665	CLIP-seq
MIRT2477830	hsa-miR-942	CLIP-seq
MIRT2477817	hsa-miR-1178	CLIP-seq
MIRT1934312	hsa-miR-1202	CLIP-seq
MIRT2174138	hsa-miR-1225-5p	CLIP-seq
MIRT1934313	hsa-miR-1228	CLIP-seq
MIRT2174140	hsa-miR-1244	CLIP-seq
MIRT2174141	hsa-miR-132	CLIP-seq
MIRT794077	hsa-miR-186	CLIP-seq
MIRT2174142	hsa-miR-194	CLIP-seq
MIRT2174143	hsa-miR-199a-3p	CLIP-seq
MIRT2174144	hsa-miR-199b-3p	CLIP-seq
MIRT2174145	hsa-miR-212	CLIP-seq
MIRT2477818	hsa-miR-298	CLIP-seq
MIRT1934318	hsa-miR-300	CLIP-seq
MIRT1934319	hsa-miR-3065-5p	CLIP-seq
MIRT1934320	hsa-miR-3074-3p	CLIP-seq
MIRT2174146	hsa-miR-3129-5p	CLIP-seq
MIRT794080	hsa-miR-3133	CLIP-seq
MIRT2477820	hsa-miR-3146	CLIP-seq
MIRT2477821	hsa-miR-3149	CLIP-seq
MIRT2477822	hsa-miR-3185	CLIP-seq
MIRT1934321	hsa-miR-3194-5p	CLIP-seq
MIRT2477823	hsa-miR-3200-3p	CLIP-seq
MIRT2477824	hsa-miR-3200-5p	CLIP-seq
MIRT1934322	hsa-miR-329	CLIP-seq
MIRT1934324	hsa-miR-362-3p	CLIP-seq
MIRT1934325	hsa-miR-3668	CLIP-seq
MIRT1934327	hsa-miR-381	CLIP-seq
MIRT1934328	hsa-miR-382	CLIP-seq
MIRT1934329	hsa-miR-3941	CLIP-seq
MIRT1934330	hsa-miR-3972	CLIP-seq
MIRT2174149	hsa-miR-4276	CLIP-seq
MIRT2426389	hsa-miR-4320	CLIP-seq
MIRT2426390	hsa-miR-4464	CLIP-seq
MIRT2477825	hsa-miR-4490	CLIP-seq
MIRT1934331	hsa-miR-4528	CLIP-seq
MIRT1934332	hsa-miR-4661-3p	CLIP-seq
MIRT1934333	hsa-miR-4666-3p	CLIP-seq
MIRT794081	hsa-miR-4676-5p	CLIP-seq
MIRT1934334	hsa-miR-4684-3p	CLIP-seq
MIRT2426391	hsa-miR-4748	CLIP-seq
MIRT1934335	hsa-miR-4762-5p	CLIP-seq
MIRT2477826	hsa-miR-4774-5p	CLIP-seq
MIRT794084	hsa-miR-4786-3p	CLIP-seq
MIRT2477827	hsa-miR-516a-5p	CLIP-seq
MIRT2477828	hsa-miR-568	CLIP-seq
MIRT794094	hsa-miR-575	CLIP-seq
MIRT2477829	hsa-miR-579	CLIP-seq
MIRT1934339	hsa-miR-603	CLIP-seq
MIRT1934340	hsa-miR-642b	CLIP-seq
MIRT2426392	hsa-miR-664	CLIP-seq
MIRT794095	hsa-miR-665	CLIP-seq
MIRT2477830	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	TAS
GO:0005515	Function	Protein binding	IPI	15161933, 15778465, 17347647, 20195357, 28514442, 33961781, 36931259
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	20525016
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0007030	Process	Golgi organization	IMP	20525016
GO:0007165	Process	Signal transduction	IEA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051645	Process	Golgi localization	IBA
GO:0051683	Process	Establishment of Golgi localization	IDA	20525016
GO:0051684	Process	Maintenance of Golgi location	IMP	20525016
GO:0070161	Component	Anchoring junction	IEA
GO:0072384	Process	Organelle transport along microtubule	IMP	20525016

Other IDs

• MIM: 609870
• HGNC: 23725
• e!Ensembl: ENSG00000107863

Protein

• UniProt ID: Q5T5U3
• Protein name: Rho GTPase-activating protein 21 (Rho GTPase-activating protein 10) (Rho-type GTPase-activating protein 21)
• Protein function: Functions as a GTPase-activating protein (GAP) for RHOA and CDC42. Downstream partner of ARF1 which may control Golgi apparatus structure and function. Also required for CTNNA1 recruitment to adherens junctions. {ECO:0000269|PubMed:15793564, ECO
• PDB: 2DHJ, 2J59, 2YUY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17820	PDZ_6	103 → 156	PDZ domain	Domain
  PF00169	PH	932 → 1040	PH domain	Domain
  PF00620	RhoGAP	1162 → 1316	RhoGAP domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with higher expression in brain, heart, skeletal muscle and placenta. {ECO:0000269|PubMed:12056806}.
• Sequence:

  MMATRRTGLSEGDGDKLKACEVSKNKDGKEQSETVSLSEDETFSWPGPKTVTLKRTSQGF
  GFTLRHFIVYPPESAIQFSYKDEENGNRGGKQRNRLEPMDTIFVKQVKEGGPAFEAGLCT
  GDRIIKVNGESVIGKTYSQVIALIQNSDTTLELSVMPKDEDILQVLQFTKDVTALAYSQD
  AYLKGNEAYSGNARNIPEPPPICYPWLPSAPSAMAQPVEISPPDSSLSKQQTSTPVLTQP
  GRAYRMEIQVPPSPTDVAKSNTAVCVCNESVRTVIVPSEKVVDLLSNRNNHTGPSHRTEE
  VRYGVSEQTSLKTVSRTTSPPLSIPTTHLIHQPAGSRSLEPSGILLKSGNYSGHSDGISS
  SRSQAVEAPSVSVNHYSPNSHQHIDWKNYKTYKEYIDNRRLHIGCRTIQERLDSLRAASQ
  STTDYNQVVPNRTTLQGRRRSTSHDRVPQSVQIRQRSVSQERLEDSVLMKYCPRSASQGA
  LTSPSVSFSNHRTRSWDYIEGQDETLENVNSGTPIPDSNGEKKQTYKWSGFTEQDDRRGI
  CERPRQQEIHKSFRGSNFTVAPSVVNSDNRRMSGRGVGSVSQFKKIPPDLKTLQSNRNFQ
  TTCGMSLPRGISQDRSPLVKVRSNSLKAPSTHVTKPSFSQKSFVSIKDQRPVNHLHQNSL
  LNQQTWVRTDSAPDQQVETGKSPSLSGASAKPAPQSSENAGTSDLELPVSQRNQDLSLQE
  AETEQSDTLDNKEAVILREKPPSGRQTPQPLRHQSYILAVNDQETGSDTTCWLPNDARRE
  VHIKRMEERKASSTSPPGDSLASIPFIDEPTSPSIDHDIAHIPASAVISASTSQVPSIAT
  VPPCLTTSAPLIRRQLSHDHESVGPPSLDAQPNSKTERSKSYDEGLDDYREDAKLSFKHV
  SSLKGIKIADSQKSSEDSGSRKDSSSEVFSDAAKEGWLHFRPLVTDKGKRVGGSIRPWKQ
  MYVVLRGHSLYLYKDKREQTTPSEEEQPISVNACLIDISYSETKRKNVFRLTTSDCECLF
  QAEDRDDMLAWIKTIQESSNLNEEDTGVTNRDLISRRIKEYNNLMSKAEQLPKTPRQSLS
  IRQTLLGAKSEPKTQSPHSPKEESERKLLSKDDTSPPKDKGTWRKGIPSIMRKTFEKKPT
  ATGTFGVRLDDCPPAHTNRYIPLIVDICCKLVEERGLEYTGIYRVPGNNAAISSMQEELN
  KGMADIDIQDDKWRDLNVISSLLKSFFRKLPEPLFTNDKYADFIEANRKEDPLDRLKTLK
  RLIHDLPEHHYETLKFLSAHLKTVAENSEKNKMEPRNLAIVFGPTLVRTSEDNMTHMVTH
  MPDQYKIVETLIQHHDWFFTEEGAEEPLTTVQEESTVDSQPVPNIDHLLTNIGRTGVSPG
  DVSDSATSDSTKSKGSWGSGKDQYSRELLVSSIFAAASRKRKKPKEKAQPSSSEDELDNV
  FFKKENVEQCHNDTKEESKKESETLGRKQKIIIAKENSTRKDPSTTKDEKISLGKESTPS
  EEPSPPHNSKHNKSPTLSCRFAILKESPRSLLAQKSSHLEETGSDSGTLLSTSSQASLAR
  FSMKKSTSPETKHSEFLANVSTITSDYSTTSSATYLTSLDSSRLSPEVQSVAESKGDEAD
  DERSELISEGRPVETDSESEFPVFPTALTSERLFRGKLQEVTKSSRRNSEGSELSCTEGS
  LTSSLDSRRQLFSSHKLIECDTLSRKKSARFKSDSGSLGDAKNEKEAPSLTKVFDVMKKG
  KSTGSLLTPTRGESEKQEPTWKTKIADRLKLRPRAPADDMFGVGNHKVNAETAKRKSIRR
  RHTLGGHRDATEISVLNFWKVHEQSGERESELSAVNRLKPKCSAQDLSISDWLARERLRT
  STSDLSRGEIGDPQTENPSTREIATTDTPLSLHCNTGSSSSTLASTNRPLLSIPPQSPDQ
  INGESFQNVSKNASSAANAQPHKLSETPGSKAEFHPCL

• Sequence length: 1958

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal brain morphology	Likely pathogenic	rs1060499743	RCV000454179	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL EDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUODENAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARYNGEAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	23200924		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34211100, 36676763	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	BEFREE	25691070		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19268501, 23200924		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23200924	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19268501, 23200924		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	30692208	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23200924		★☆☆☆☆ Found in Text Mining only
Malocclusion	Malocclusion	Pubtator	28257739	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19268501		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29574752, 31191459		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	23200924		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23200924	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23200924	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23200924		★☆☆☆☆ Found in Text Mining only