Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	23094
Gene name	Signal induced proliferation associated 1 like 3
Gene symbol	SIPA1L3
Synonyms (NCBI Gene)	CTRCT45SPAL3SPAR3
Chromosome	19
Chromosome location	19q13.13-q13.2
Summary	This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization

SNP ID	Visualize variation	Clinical significance	Consequence
rs756898971	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant

306 Show/Hide all (306)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019987	hsa-miR-375	Microarray	20215506
MIRT050905	hsa-miR-17-5p	CLASH	23622248
MIRT048328	hsa-miR-106a-5p	CLASH	23622248
MIRT045593	hsa-miR-149-5p	CLASH	23622248
MIRT039665	hsa-miR-615-3p	CLASH	23622248
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT521121	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT521120	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT439629	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT439629	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT521121	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT521120	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT612232	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT612231	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT521122	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT521121	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT521120	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT1349820	hsa-miR-1200	CLIP-seq
MIRT1349821	hsa-miR-1234	CLIP-seq
MIRT1349822	hsa-miR-143	CLIP-seq
MIRT1349823	hsa-miR-146b-3p	CLIP-seq
MIRT1349824	hsa-miR-147	CLIP-seq
MIRT1349825	hsa-miR-185	CLIP-seq
MIRT1349826	hsa-miR-2117	CLIP-seq
MIRT1349827	hsa-miR-3150b-3p	CLIP-seq
MIRT1349828	hsa-miR-3158-3p	CLIP-seq
MIRT1349829	hsa-miR-3184	CLIP-seq
MIRT1349830	hsa-miR-339-5p	CLIP-seq
MIRT1349831	hsa-miR-3616-3p	CLIP-seq
MIRT1349832	hsa-miR-3662	CLIP-seq
MIRT1349833	hsa-miR-3690	CLIP-seq
MIRT1349834	hsa-miR-370	CLIP-seq
MIRT1349835	hsa-miR-3911	CLIP-seq
MIRT1349836	hsa-miR-423-5p	CLIP-seq
MIRT1349837	hsa-miR-4254	CLIP-seq
MIRT1349838	hsa-miR-4271	CLIP-seq
MIRT1349839	hsa-miR-4273	CLIP-seq
MIRT1349840	hsa-miR-4279	CLIP-seq
MIRT1349841	hsa-miR-4306	CLIP-seq
MIRT1349842	hsa-miR-4324	CLIP-seq
MIRT1349843	hsa-miR-4493	CLIP-seq
MIRT1349844	hsa-miR-4533	CLIP-seq
MIRT1349845	hsa-miR-4644	CLIP-seq
MIRT1349846	hsa-miR-4687-3p	CLIP-seq
MIRT1349847	hsa-miR-4691-5p	CLIP-seq
MIRT1349848	hsa-miR-4698	CLIP-seq
MIRT1349849	hsa-miR-4716-5p	CLIP-seq
MIRT1349850	hsa-miR-4721	CLIP-seq
MIRT1349851	hsa-miR-4725-3p	CLIP-seq
MIRT1349852	hsa-miR-4747-5p	CLIP-seq
MIRT1349853	hsa-miR-4770	CLIP-seq
MIRT1349854	hsa-miR-4784	CLIP-seq
MIRT1349855	hsa-miR-4785	CLIP-seq
MIRT1349856	hsa-miR-544b	CLIP-seq
MIRT1349857	hsa-miR-548aa	CLIP-seq
MIRT1349858	hsa-miR-548ac	CLIP-seq
MIRT1349859	hsa-miR-548d-3p	CLIP-seq
MIRT1349860	hsa-miR-548z	CLIP-seq
MIRT1349861	hsa-miR-644	CLIP-seq
MIRT1349862	hsa-miR-765	CLIP-seq
MIRT1349863	hsa-miR-766	CLIP-seq
MIRT2103689	hsa-miR-1275	CLIP-seq
MIRT2103690	hsa-miR-133a	CLIP-seq
MIRT2103691	hsa-miR-133b	CLIP-seq
MIRT2103692	hsa-miR-3152-5p	CLIP-seq
MIRT2103693	hsa-miR-3160-3p	CLIP-seq
MIRT1349829	hsa-miR-3184	CLIP-seq
MIRT2103694	hsa-miR-3612	CLIP-seq
MIRT2103695	hsa-miR-3614-3p	CLIP-seq
MIRT2103696	hsa-miR-3929	CLIP-seq
MIRT2103697	hsa-miR-3975	CLIP-seq
MIRT1349836	hsa-miR-423-5p	CLIP-seq
MIRT2103698	hsa-miR-4299	CLIP-seq
MIRT2103699	hsa-miR-4419b	CLIP-seq
MIRT2103700	hsa-miR-4443	CLIP-seq
MIRT2103701	hsa-miR-4456	CLIP-seq
MIRT2103702	hsa-miR-4478	CLIP-seq
MIRT2103703	hsa-miR-4532	CLIP-seq
MIRT2103704	hsa-miR-4640-5p	CLIP-seq
MIRT2103705	hsa-miR-4665-5p	CLIP-seq
MIRT2103706	hsa-miR-4707-5p	CLIP-seq
MIRT2103707	hsa-miR-4710	CLIP-seq
MIRT2103708	hsa-miR-4726-5p	CLIP-seq
MIRT2103709	hsa-miR-4792	CLIP-seq
MIRT2103710	hsa-miR-485-5p	CLIP-seq
MIRT2103711	hsa-miR-494	CLIP-seq
MIRT2103712	hsa-miR-513a-5p	CLIP-seq
MIRT2103713	hsa-miR-516b	CLIP-seq
MIRT2103714	hsa-miR-548q	CLIP-seq
MIRT2103715	hsa-miR-650	CLIP-seq
MIRT2103716	hsa-miR-760	CLIP-seq
MIRT2103717	hsa-miR-939	CLIP-seq
MIRT2327783	hsa-miR-1193	CLIP-seq
MIRT2327784	hsa-miR-1207-3p	CLIP-seq
MIRT2327785	hsa-miR-1224-5p	CLIP-seq
MIRT2327786	hsa-miR-1270	CLIP-seq
MIRT2327787	hsa-miR-1273f	CLIP-seq
MIRT2103689	hsa-miR-1275	CLIP-seq
MIRT2327788	hsa-miR-1291	CLIP-seq
MIRT2103690	hsa-miR-133a	CLIP-seq
MIRT2103691	hsa-miR-133b	CLIP-seq
MIRT2327789	hsa-miR-1587	CLIP-seq
MIRT1349825	hsa-miR-185	CLIP-seq
MIRT2327790	hsa-miR-28-5p	CLIP-seq
MIRT2327791	hsa-miR-3121-5p	CLIP-seq
MIRT2327792	hsa-miR-3139	CLIP-seq
MIRT2327793	hsa-miR-3147	CLIP-seq
MIRT2327794	hsa-miR-3148	CLIP-seq
MIRT2327795	hsa-miR-3150a-3p	CLIP-seq
MIRT2103693	hsa-miR-3160-3p	CLIP-seq
MIRT2327796	hsa-miR-3175	CLIP-seq
MIRT2327797	hsa-miR-3192	CLIP-seq
MIRT2327798	hsa-miR-3622b-5p	CLIP-seq
MIRT2327799	hsa-miR-3671	CLIP-seq
MIRT1349833	hsa-miR-3690	CLIP-seq
MIRT2327800	hsa-miR-371-5p	CLIP-seq
MIRT2327801	hsa-miR-371b-5p	CLIP-seq
MIRT1349837	hsa-miR-4254	CLIP-seq
MIRT1349838	hsa-miR-4271	CLIP-seq
MIRT1349841	hsa-miR-4306	CLIP-seq
MIRT2327802	hsa-miR-4308	CLIP-seq
MIRT2327803	hsa-miR-4419a	CLIP-seq
MIRT2327804	hsa-miR-4425	CLIP-seq
MIRT2327805	hsa-miR-4435	CLIP-seq
MIRT2327806	hsa-miR-4446-3p	CLIP-seq
MIRT2327807	hsa-miR-4492	CLIP-seq
MIRT2327808	hsa-miR-4498	CLIP-seq
MIRT2327809	hsa-miR-4505	CLIP-seq
MIRT2327810	hsa-miR-4510	CLIP-seq
MIRT2327811	hsa-miR-4525	CLIP-seq
MIRT2327812	hsa-miR-4632	CLIP-seq
MIRT1349845	hsa-miR-4644	CLIP-seq
MIRT2327813	hsa-miR-4656	CLIP-seq
MIRT2103705	hsa-miR-4665-5p	CLIP-seq
MIRT2327814	hsa-miR-4675	CLIP-seq
MIRT2327815	hsa-miR-4683	CLIP-seq
MIRT2327816	hsa-miR-4685-5p	CLIP-seq
MIRT2327817	hsa-miR-4694-5p	CLIP-seq
MIRT2103707	hsa-miR-4710	CLIP-seq
MIRT1349849	hsa-miR-4716-5p	CLIP-seq
MIRT1349851	hsa-miR-4725-3p	CLIP-seq
MIRT2327818	hsa-miR-4728-5p	CLIP-seq
MIRT2327819	hsa-miR-4730	CLIP-seq
MIRT2327820	hsa-miR-4741	CLIP-seq
MIRT2327821	hsa-miR-4751	CLIP-seq
MIRT2327822	hsa-miR-4768-5p	CLIP-seq
MIRT2103711	hsa-miR-494	CLIP-seq
MIRT2327823	hsa-miR-518a-5p	CLIP-seq
MIRT2327824	hsa-miR-527	CLIP-seq
MIRT2103714	hsa-miR-548q	CLIP-seq
MIRT2327825	hsa-miR-620	CLIP-seq
MIRT2327826	hsa-miR-708	CLIP-seq
MIRT2327827	hsa-miR-762	CLIP-seq
MIRT2103717	hsa-miR-939	CLIP-seq
MIRT2459391	hsa-miR-106a	CLIP-seq
MIRT2459392	hsa-miR-106b	CLIP-seq
MIRT2459393	hsa-miR-17	CLIP-seq
MIRT2459394	hsa-miR-20a	CLIP-seq
MIRT2459395	hsa-miR-20b	CLIP-seq
MIRT2459396	hsa-miR-302a	CLIP-seq
MIRT2459397	hsa-miR-302b	CLIP-seq
MIRT2459398	hsa-miR-302c	CLIP-seq
MIRT2459399	hsa-miR-302d	CLIP-seq
MIRT2459400	hsa-miR-302e	CLIP-seq
MIRT2459401	hsa-miR-3064-5p	CLIP-seq
MIRT2459402	hsa-miR-372	CLIP-seq
MIRT2459403	hsa-miR-373	CLIP-seq
MIRT2459404	hsa-miR-4268	CLIP-seq
MIRT2459405	hsa-miR-4448	CLIP-seq
MIRT2459406	hsa-miR-519d	CLIP-seq
MIRT2459407	hsa-miR-520a-3p	CLIP-seq
MIRT2459408	hsa-miR-520b	CLIP-seq
MIRT2459409	hsa-miR-520c-3p	CLIP-seq
MIRT2459410	hsa-miR-520d-3p	CLIP-seq
MIRT2459411	hsa-miR-520e	CLIP-seq
MIRT2459412	hsa-miR-604	CLIP-seq
MIRT2459413	hsa-miR-618	CLIP-seq
MIRT2459414	hsa-miR-647	CLIP-seq
MIRT2459415	hsa-miR-93	CLIP-seq
MIRT2622851	hsa-miR-1261	CLIP-seq
MIRT1349834	hsa-miR-370	CLIP-seq
MIRT2622852	hsa-miR-4665-3p	CLIP-seq
MIRT2622853	hsa-miR-4714-3p	CLIP-seq
MIRT2622854	hsa-miR-4773	CLIP-seq
MIRT2103711	hsa-miR-494	CLIP-seq
MIRT1349858	hsa-miR-548ac	CLIP-seq
MIRT1349859	hsa-miR-548d-3p	CLIP-seq
MIRT1349860	hsa-miR-548z	CLIP-seq

30 Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001654	Process	Eye development	IEA
GO:0001654	Process	Eye development	ISS
GO:0001725	Component	Stress fiber	IDA	26231217
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0003382	Process	Epithelial cell morphogenesis	IBA
GO:0003382	Process	Epithelial cell morphogenesis	IDA	26231217
GO:0003382	Process	Epithelial cell morphogenesis	IEA
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	15161933, 15778465, 28514442, 33961781, 35271311, 36931259
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007010	Process	Cytoskeleton organization	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0045177	Component	Apical part of cell	IMP	26231217
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0061689	Component	Tricellular tight junction	IDA	26231217
GO:0090162	Process	Establishment of epithelial cell polarity	IBA
GO:0090162	Process	Establishment of epithelial cell polarity	IDA	26231217
GO:0090162	Process	Establishment of epithelial cell polarity	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099091	Component	Postsynaptic specialization, intracellular component	IEA

MIM	HGNC	e!Ensembl
616655	23801	ENSG00000105738

O60292

Protein name

Signal-induced proliferation-associated 1-like protein 3 (SIPA1-like protein 3) (SPA-1-like protein 3)

Protein function

Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02145	Rap_GAP	640 → 822	Rap/ran-GAP	Family
PF11881	SPAR_C	1477 → 1726	C-terminal domain of SPAR protein	Family

Sequence

MTTYRAIPSDGVDLAASCGARVGDVLPGPHTGDYAPLGFWAQNGSMSQPLGESPATATAT
ATATTRPSPTTPAMPKMGVRARVADWPPKREALREHSNPSPSQDTDGTKATKMAHSMRSI
QNGQPPTSTPASSGSKAFHRLSRRRSKDVEFQDGWPRSPGRAFLPLRHRSSSEITLSECD
AEDAGEPRGARHTGALPLFREYGSTSSIDVQGMPEQSFFDILNEFRSEQPDARGCQALTE
LLRADPGPHLMGGGGGAKGDSHNGQPAKDSLLPLQPTKEKEKARKKPARGLGGGDTVDSS
IFRKLRSSKPEGEAGRSPGEADEGRSPPEASRPWVCQKSFAHFDVQSMLFDLNEAAANRV
SVSQRRNTTTGASAASAASAMASLTASRAHSLGGLDPAFTSTEDLNCKENLEQDLGDDNS
NDLLLSCPHFRNEIGGECERNVSFSRASVGSPSSGEGHLAEPALSAYRTNASISVLEVPK
EQQRTQSRPRQYSIEHVDLGARYYQDYFVGKEHANYFGVDEKLGPVAVSIKREKLEDHKE
HGPQYQYRIIFRTRELITLRGSILEDATPTATKHGTGRGLPLKDALEYVIPELNIHCLRL
ALNTPKVTEQLLKLDEQGLCRKHKVGILYCKAGQSSEEEMYNNEEAGPAFEEFLSLIGEK
VCLKGFTKYAAQLDVKTDSTGTHSLYTMYQDYEIMFHVSTLLPYTPNNRQQLLRKRHIGN
DIVTIIFQEPGALPFTPKNIRSHFQHVFIIVRVHNPCTDNVCYSMAVTRSKDAPPFGPPI
PSGTTFRKSDVFRDFLLAKVINAENAAHKSDKFHTMATRTRQEYLKDLAENCVSNTPIDS
TGKFNLISLTSKKKEKTKARAGAEQHSAGAIAWRVVAQDYAQGVEIDCILGISNEFVVLL
DLRTKEVVFNCYCGDVIGWTPDSSTLKIFYGRGDHIFLQATEGSVEDIREIVQRLKVMTS
GWETVDMTLRRNGLGQLGFHVKYDGTVAEVEDYGFAWQAGLRQGSRLVEICKVAVVTLTH
DQMIDLLRTSVTVKVVIIPPFEDGTPRRGWPETYDMNTSEPKTEQESITPGGRPPYRSNA
PWQWSGPASHNSLPASKWATPTTPGHAQSLSRPLKQTPIVPFRESQPLHSKRPVSFPETP
YTVSPAGADRVPPYRQPSGSFSTPGSATYVRYKPSPERYTAAPHPLLSLDPHFSHDGTSS
GDSSSGGLTSQESTMERQKPEPLWHVPAQARLSAIAGSSGNKHPSRQDAAGKDSPNRHSK
GEPQYSSHSSSNTLSSNASSSHSDDRWFDPLDPLEPEQDPLSKGGSSDSGIDTTLYTSSP
SCMSLAKAPRPAKPHKPPGSMGLCGGGREAAGRSHHADRRREVSPAPAVAGQSKGYRPKL
YSSGSSTPTGLAGGSRDPPRQPSDMGSRVGYPAQVYKTASAETPRPSQLAQPSPFQLSAS
VPKSFFSKQPVRNKHPTGWKRTEEPPPRPLPFSDPKKQVDTNTKNVFGQPRLRASLRDLR
SPRKNYKSTIEDDLKKLIIMDNLGPEQERDTGQSPQKGLQRTLSDESLCSGRREPSFASP
AGLEPGLPSDVLFTSTCAFPSSTLPARRQHQHPHPPVGPGATPAAGSGFPEKKSTISASE
LSLADGRDRPLRRLDPGLMPLPDTAAGLEWSSLVNAAKAYEVQRAVSLFSLNDPALSPDI
PPAHSPVHSHLSLERGPPTPRTTPTMSEEPPLDLTGKVYQLEVMLKQLHTDLQKEKQDKV
VLQSEVASLRQNNQRLQEESQAASEQLRKFAEIFCREKKEL

Sequence length

1781

Interactions

View interactions

KEGG Pathway
Rap1 signaling pathway

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cataract 45	Pathogenic	rs1568573490, rs756898971	RCV002251032 RCV000208874	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (21)
Acute myeloid leukemia	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	29124443	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance; Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL TOTAL CATARACT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	29124443	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	37337107	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	38072966	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	33398198, 37945903	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	33398198, 37945903	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	35396580, 39753749	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIPA1L3-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOTAL EARLY-ONSET CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	25804400, 25804400	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (13)
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	31077186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30924596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	25804400, 26231217, 30046524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	25804400	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 45	Cataract	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CATARACT 45	Cataract	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31554631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	25804400, 27993984		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital total cataract	Congenital Cataract	ORPHANET_DG	25804400		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	GWASCAT_DG	29124443		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29124443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31077186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Total early-onset cataract	Cataract	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GCNT2	3	["Cataract","Congenital cataract","Congenital total cataract"]	[]	8	["GWAS catalog (Cataract)","CTD (Cataract)","Disgenet (Cataract)","Orphanet (Cataract)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Congenital cataract)","Disgenet (Congenital total cataract)"]
LIM2	3	["Cataract","Congenital cataract","Congenital total cataract"]	[]	7	["CTD (Cataract)","Disgenet (Cataract)","Orphanet (Cataract)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Congenital cataract)","Disgenet (Congenital total cataract)"]
DNMBP	2	["Cataract","Congenital total cataract"]	[]	7	["GWAS catalog (Cataract)","CTD (Cataract)","Disgenet (Cataract)","Orphanet (Cataract)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Congenital total cataract)"]
CRYGB	3	["Cataract","Congenital cataract","Congenital total cataract"]	[]	8	["GWAS catalog (Cataract)","CTD (Cataract)","Disgenet (Cataract)","Orphanet (Cataract)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Congenital cataract)","Disgenet (Congenital total cataract)"]
FYCO1	3	["Cataract","Congenital cataract","Congenital total cataract"]	[]	6	["GWAS catalog (Cataract)","Orphanet (Cataract)","ClinVar (Cataract)","HPO (Cataract)","Disgenet (Congenital cataract)","Disgenet (Congenital total cataract)"]

SIPA1L3 (signal induced proliferation associated 1 like 3)

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