Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3708
Gene name	Inositol 1,4,5-trisphosphate receptor type 1
Gene symbol	ITPR1
Synonyms (NCBI Gene)	ACVCLA4INSP3R1IP3RIP3R1PPP1R94SCA15SCA16SCA29
Chromosome	3
Chromosome location	3p26.1
Summary	This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type

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SNP ID	Visualize variation	Clinical significance	Consequence
rs41289628	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs41304179	C>T	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs61757108	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs61757111	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs121912425	C>T	Pathogenic	Missense variant, coding sequence variant
rs182840163	C>T	Likely-pathogenic, benign, likely-benign	Coding sequence variant, synonymous variant
rs200335594	T>C	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs371988852	C>A,T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs397514535	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397514536	A>G	Pathogenic	Missense variant, coding sequence variant
rs556943368	C>G,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs752281590	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs797044955	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs863224882	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs869312685	G>A,C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs878853171	C>T	Pathogenic	Stop gained, coding sequence variant
rs878853172	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs878853173	A>T	Pathogenic	Genic downstream transcript variant, intron variant
rs878853174	G>T	Pathogenic	Genic downstream transcript variant, intron variant
rs878853175	AAG>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs878853176	T>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs878853177	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs886039392	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs886058579	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, synonymous variant
rs1057518026	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064796252	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796337	G>C	Pathogenic	Splice acceptor variant
rs1085308010	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1114167316	T>C	Pathogenic	Missense variant, coding sequence variant
rs1131691473	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1131691919	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1249951465	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1322796318	A>G	Pathogenic	Missense variant, coding sequence variant
rs1553654413	CGTA>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1553666546	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1553683825	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1553689752	->TATA	Pathogenic	Frameshift variant, coding sequence variant
rs1553756062	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1553758021	T>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1559603328	GAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1559638068	A>T	Pathogenic	Splice acceptor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT003225	hsa-miR-424-5p	Luciferase reporter assay	20065103
MIRT017604	hsa-miR-335-5p	Microarray	18185580
MIRT019619	hsa-miR-340-5p	Sequencing	20371350
MIRT022001	hsa-miR-128-3p	Sequencing	20371350
MIRT028366	hsa-miR-32-5p	Sequencing	20371350
MIRT162735	hsa-miR-204-5p	qRT-PCRWestern blot	24960059
MIRT162735	hsa-miR-204-5p	qRT-PCRWestern blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCRWestern blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCRWestern blot	24960059
MIRT438780	hsa-miR-448	qRT-PCRWestern blot	24960059
MIRT438780	hsa-miR-448	qRT-PCRWestern blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCRWestern blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCRWestern blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCRWestern blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCRWestern blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCRWestern blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCRWestern blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCRWestern blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCRWestern blot	24960059
MIRT162735	hsa-miR-204-5p	qRT-PCRWestern blot	24960059
MIRT162735	hsa-miR-204-5p	qRT-PCRWestern blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCRWestern blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCRWestern blot	24960059
MIRT438780	hsa-miR-448	qRT-PCRWestern blot	24960059
MIRT438780	hsa-miR-448	qRT-PCRWestern blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCRWestern blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCRWestern blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCRWestern blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCRWestern blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCRWestern blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCRWestern blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCRWestern blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCRWestern blot	24960059
MIRT092181	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT092185	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT092184	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT028366	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT092189	hsa-miR-4803	PAR-CLIP	20371350
MIRT475080	hsa-miR-3163	PAR-CLIP	20371350
MIRT092187	hsa-miR-4328	PAR-CLIP	20371350
MIRT019619	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT092181	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT092185	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT092184	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT028366	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT092189	hsa-miR-4803	PAR-CLIP	21572407
MIRT475080	hsa-miR-3163	PAR-CLIP	21572407
MIRT092187	hsa-miR-4328	PAR-CLIP	21572407
MIRT019619	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT092181	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT092185	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT092184	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT028366	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT092189	hsa-miR-4803	PAR-CLIP	23592263
MIRT475080	hsa-miR-3163	PAR-CLIP	23592263
MIRT092187	hsa-miR-4328	PAR-CLIP	23592263
MIRT019619	hsa-miR-340-5p	PAR-CLIP	23592263
MIRT092190	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT092194	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT092191	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT092195	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT162697	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT162698	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT092182	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT092186	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028366	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT092181	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT092185	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT092184	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT028366	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT092189	hsa-miR-4803	PAR-CLIP	20371350
MIRT475080	hsa-miR-3163	PAR-CLIP	20371350
MIRT092187	hsa-miR-4328	PAR-CLIP	20371350
MIRT019619	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT092181	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT092185	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT092184	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT028366	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT092189	hsa-miR-4803	PAR-CLIP	21572407
MIRT475080	hsa-miR-3163	PAR-CLIP	21572407
MIRT092187	hsa-miR-4328	PAR-CLIP	21572407
MIRT019619	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT092181	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT092185	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT092184	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT028366	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT092189	hsa-miR-4803	PAR-CLIP	23592263
MIRT475080	hsa-miR-3163	PAR-CLIP	23592263
MIRT092187	hsa-miR-4328	PAR-CLIP	23592263
MIRT019619	hsa-miR-340-5p	PAR-CLIP	23592263
MIRT1074979	hsa-miR-1197	CLIP-seq
MIRT1074980	hsa-miR-1226	CLIP-seq
MIRT1074981	hsa-miR-204	CLIP-seq
MIRT1074982	hsa-miR-211	CLIP-seq
MIRT1074983	hsa-miR-3117-3p	CLIP-seq
MIRT1074984	hsa-miR-329	CLIP-seq
MIRT1074985	hsa-miR-3607-5p	CLIP-seq
MIRT1074986	hsa-miR-362-3p	CLIP-seq
MIRT1074987	hsa-miR-376c	CLIP-seq
MIRT1074988	hsa-miR-4287	CLIP-seq
MIRT1074989	hsa-miR-4300	CLIP-seq
MIRT1074990	hsa-miR-4501	CLIP-seq
MIRT1074991	hsa-miR-4504	CLIP-seq
MIRT1074992	hsa-miR-4685-3p	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1074996	hsa-miR-542-3p	CLIP-seq
MIRT1074997	hsa-miR-651	CLIP-seq
MIRT1074998	hsa-miR-920	CLIP-seq
MIRT1074999	hsa-miR-103a	CLIP-seq
MIRT1075000	hsa-miR-107	CLIP-seq
MIRT1075001	hsa-miR-125a-3p	CLIP-seq
MIRT1075002	hsa-miR-1262	CLIP-seq
MIRT1075003	hsa-miR-1271	CLIP-seq
MIRT1075004	hsa-miR-1297	CLIP-seq
MIRT1075005	hsa-miR-130a	CLIP-seq
MIRT1075006	hsa-miR-130b	CLIP-seq
MIRT1075007	hsa-miR-15a	CLIP-seq
MIRT1075008	hsa-miR-15b	CLIP-seq
MIRT1075009	hsa-miR-16	CLIP-seq
MIRT1075010	hsa-miR-182	CLIP-seq
MIRT1075011	hsa-miR-195	CLIP-seq
MIRT1075012	hsa-miR-19a	CLIP-seq
MIRT1075013	hsa-miR-19b	CLIP-seq
MIRT1075014	hsa-miR-203	CLIP-seq
MIRT1075015	hsa-miR-224	CLIP-seq
MIRT1075016	hsa-miR-26a	CLIP-seq
MIRT1075017	hsa-miR-26b	CLIP-seq
MIRT1075018	hsa-miR-301a	CLIP-seq
MIRT1075019	hsa-miR-301b	CLIP-seq
MIRT1075020	hsa-miR-3646	CLIP-seq
MIRT1075021	hsa-miR-3666	CLIP-seq
MIRT1075022	hsa-miR-3934	CLIP-seq
MIRT1075023	hsa-miR-424	CLIP-seq
MIRT1075024	hsa-miR-4274	CLIP-seq
MIRT1075025	hsa-miR-4295	CLIP-seq
MIRT1075026	hsa-miR-4465	CLIP-seq
MIRT1075027	hsa-miR-4519	CLIP-seq
MIRT1075028	hsa-miR-454	CLIP-seq
MIRT1075029	hsa-miR-4662a-5p	CLIP-seq
MIRT1075030	hsa-miR-4666-5p	CLIP-seq
MIRT1075031	hsa-miR-4694-3p	CLIP-seq
MIRT1075032	hsa-miR-4701-3p	CLIP-seq
MIRT1075033	hsa-miR-4719	CLIP-seq
MIRT1075034	hsa-miR-488	CLIP-seq
MIRT1075035	hsa-miR-497	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1075036	hsa-miR-522	CLIP-seq
MIRT1075037	hsa-miR-579	CLIP-seq
MIRT1075038	hsa-miR-764	CLIP-seq
MIRT1075039	hsa-miR-885-3p	CLIP-seq
MIRT1075040	hsa-miR-96	CLIP-seq
MIRT1075001	hsa-miR-125a-3p	CLIP-seq
MIRT1075004	hsa-miR-1297	CLIP-seq
MIRT1075005	hsa-miR-130a	CLIP-seq
MIRT1075006	hsa-miR-130b	CLIP-seq
MIRT1075012	hsa-miR-19a	CLIP-seq
MIRT1075013	hsa-miR-19b	CLIP-seq
MIRT1075016	hsa-miR-26a	CLIP-seq
MIRT1075017	hsa-miR-26b	CLIP-seq
MIRT1075018	hsa-miR-301a	CLIP-seq
MIRT1075019	hsa-miR-301b	CLIP-seq
MIRT2018594	hsa-miR-3160-5p	CLIP-seq
MIRT1075021	hsa-miR-3666	CLIP-seq
MIRT2018595	hsa-miR-3667-3p	CLIP-seq
MIRT1075022	hsa-miR-3934	CLIP-seq
MIRT1075025	hsa-miR-4295	CLIP-seq
MIRT1075026	hsa-miR-4465	CLIP-seq
MIRT1075028	hsa-miR-454	CLIP-seq
MIRT2018596	hsa-miR-4540	CLIP-seq
MIRT2018597	hsa-miR-4652-3p	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1075038	hsa-miR-764	CLIP-seq
MIRT2250423	hsa-miR-4738-3p	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1074999	hsa-miR-103a	CLIP-seq
MIRT1075000	hsa-miR-107	CLIP-seq
MIRT2553999	hsa-miR-1185	CLIP-seq
MIRT1074980	hsa-miR-1226	CLIP-seq
MIRT1075003	hsa-miR-1271	CLIP-seq
MIRT1075007	hsa-miR-15a	CLIP-seq
MIRT1075008	hsa-miR-15b	CLIP-seq
MIRT1075009	hsa-miR-16	CLIP-seq
MIRT1075010	hsa-miR-182	CLIP-seq
MIRT1075011	hsa-miR-195	CLIP-seq
MIRT2554000	hsa-miR-3679-5p	CLIP-seq
MIRT2554001	hsa-miR-3680	CLIP-seq
MIRT1075023	hsa-miR-424	CLIP-seq
MIRT2554002	hsa-miR-4252	CLIP-seq
MIRT1075030	hsa-miR-4666-5p	CLIP-seq
MIRT2554003	hsa-miR-4729	CLIP-seq
MIRT2554004	hsa-miR-4733-3p	CLIP-seq
MIRT2250423	hsa-miR-4738-3p	CLIP-seq
MIRT2554005	hsa-miR-4775	CLIP-seq
MIRT2554006	hsa-miR-4802-3p	CLIP-seq
MIRT1075034	hsa-miR-488	CLIP-seq
MIRT1075035	hsa-miR-497	CLIP-seq
MIRT2554007	hsa-miR-556-3p	CLIP-seq
MIRT1075037	hsa-miR-579	CLIP-seq
MIRT2554008	hsa-miR-590-3p	CLIP-seq
MIRT1075039	hsa-miR-885-3p	CLIP-seq
MIRT2554009	hsa-miR-889	CLIP-seq
MIRT1075040	hsa-miR-96	CLIP-seq
MIRT2553999	hsa-miR-1185	CLIP-seq
MIRT1074980	hsa-miR-1226	CLIP-seq
MIRT2683023	hsa-miR-1246	CLIP-seq
MIRT2683024	hsa-miR-1279	CLIP-seq
MIRT2683025	hsa-miR-153	CLIP-seq
MIRT1074981	hsa-miR-204	CLIP-seq
MIRT1074982	hsa-miR-211	CLIP-seq
MIRT2683026	hsa-miR-3117-5p	CLIP-seq
MIRT2683027	hsa-miR-3140-5p	CLIP-seq
MIRT2683028	hsa-miR-3187-3p	CLIP-seq
MIRT2554000	hsa-miR-3679-5p	CLIP-seq
MIRT2683029	hsa-miR-3942-3p	CLIP-seq
MIRT2683030	hsa-miR-412	CLIP-seq
MIRT2554002	hsa-miR-4252	CLIP-seq
MIRT2683031	hsa-miR-4435	CLIP-seq
MIRT2683032	hsa-miR-4457	CLIP-seq
MIRT2683033	hsa-miR-4474-3p	CLIP-seq
MIRT2683034	hsa-miR-4528	CLIP-seq
MIRT2683035	hsa-miR-4530	CLIP-seq
MIRT2683036	hsa-miR-4698	CLIP-seq
MIRT2683037	hsa-miR-4701-5p	CLIP-seq
MIRT2554003	hsa-miR-4729	CLIP-seq
MIRT2554004	hsa-miR-4733-3p	CLIP-seq
MIRT2683038	hsa-miR-4755-5p	CLIP-seq
MIRT2683039	hsa-miR-4760-3p	CLIP-seq
MIRT2683040	hsa-miR-4764-5p	CLIP-seq
MIRT2683041	hsa-miR-4778-3p	CLIP-seq
MIRT2683042	hsa-miR-509-3p	CLIP-seq
MIRT2683043	hsa-miR-513b	CLIP-seq
MIRT2683044	hsa-miR-548aa	CLIP-seq
MIRT2683045	hsa-miR-548s	CLIP-seq
MIRT2683046	hsa-miR-576-5p	CLIP-seq
MIRT2683047	hsa-miR-586	CLIP-seq
MIRT2683048	hsa-miR-588	CLIP-seq
MIRT2683049	hsa-miR-617	CLIP-seq
MIRT2683050	hsa-miR-623	CLIP-seq
MIRT2683051	hsa-miR-654-3p	CLIP-seq
MIRT2683052	hsa-miR-664	CLIP-seq
MIRT2683053	hsa-miR-760	CLIP-seq

Show/Hide all (95)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001666	Process	Response to hypoxia	IDA	19120137
GO:0001666	Process	Response to hypoxia	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IBA
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IDA	10620513, 36376291
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IEA
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IMP	27108797
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	ISS
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	TAS	8648241
GO:0005262	Function	Calcium channel activity	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005515	Function	Protein binding	IPI	16793548, 19220705, 20010695, 22045699, 23884412, 27995898
GO:0005524	Function	ATP binding	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005783	Component	Endoplasmic reticulum	NAS	8648241
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	7852357, 27108798
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005955	Component	Calcineurin complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	NAS	7852357
GO:0006915	Process	Apoptotic process	IEA
GO:0007165	Process	Signal transduction	NAS	8648241
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007207	Process	Phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0007338	Process	Single fertilization	ISS
GO:0009791	Process	Post-embryonic development	IEA
GO:0010506	Process	Regulation of autophagy	TAS	22770472
GO:0014069	Component	Postsynaptic density	IEA
GO:0015085	Function	Calcium ion transmembrane transporter activity	IEA
GO:0015085	Function	Calcium ion transmembrane transporter activity	TAS	7500840
GO:0015278	Function	Intracellularly gated calcium channel activity	IEA
GO:0015278	Function	Intracellularly gated calcium channel activity	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IBA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0019855	Function	Calcium channel inhibitor activity	IDA	16793548
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030667	Component	Secretory granule membrane	IBA
GO:0031088	Component	Platelet dense granule membrane	IDA	10828023
GO:0031094	Component	Platelet dense tubular network	IDA	10828023
GO:0031095	Component	Platelet dense tubular network membrane	IEA
GO:0031095	Component	Platelet dense tubular network membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035091	Function	Phosphatidylinositol binding	IBA
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0035091	Function	Phosphatidylinositol binding	ISS
GO:0036444	Process	Calcium import into the mitochondrion	ISS
GO:0042045	Process	Epithelial fluid transport	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	29907098
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050849	Process	Negative regulation of calcium-mediated signaling	IDA	16793548
GO:0050882	Process	Voluntary musculoskeletal movement	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	10620513
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	ISS
GO:0051289	Process	Protein homotetramerization	IEA
GO:0051289	Process	Protein homotetramerization	ISS
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IEA
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IEA
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISS
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IBA
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IEA
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	ISS
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098695	Function	Inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels	IEA
GO:0099566	Process	Regulation of postsynaptic cytosolic calcium ion concentration	IEA
GO:1903514	Process	Release of sequestered calcium ion into cytosol by endoplasmic reticulum	IDA	36376291
GO:1990806	Process	Ligand-gated ion channel signaling pathway	IEA

MIM	HGNC	e!Ensembl
147265	6180	ENSG00000150995

Q14643

Protein name

Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1 (IP3 receptor isoform 1) (IP3R 1) (InsP3R1) (Inositol 1,4,5 trisphosphate receptor) (Inositol 1,4,5-trisphosphate receptor type 1) (Type 1 inositol 1,4,5-trisphosphate receptor) (Type 1 InsP3 recept

Protein function

Inositol 1,4,5-trisphosphate-gated calcium channel that, upon inositol 1,4,5-trisphosphate binding, mediates calcium release from the endoplasmic reticulum (ER) (PubMed:10620513, PubMed:27108797). Undergoes conformational changes upon ligand bin

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08709	Ins145_P3_rec	4 → 229	Inositol 1,4,5-trisphosphate/ryanodine receptor	Domain
PF02815	MIR	232 → 433	MIR domain	Domain
PF01365	RYDR_ITPR	474 → 670	RIH domain	Family
PF01365	RYDR_ITPR	1194 → 1354	RIH domain	Family
PF08454	RIH_assoc	1968 → 2078	RyR and IP3R Homology associated	Family
PF00520	Ion_trans	2320 → 2609	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:7500840}.

Sequence

MSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKL
CPMNRYSAQKQFWKAAKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNV
IQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQPFYKLRSIGDSVVIGD
KVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVV
RLFHAEQEKFLTCDEHRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWN
SLFRFKHLATGHYLAAEVDPDFEEECLEFQPSVDPDQDASRSRLRNAQEKMVYSLVSVPE
GNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGT
SPVKEDKEAFAIVPVSPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDL
VYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQAPFTDCGDGPMLRLEE
LGDQRHAPFRHICRLCYRVLRHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLH
NNRKLLEKHITAAEIDTFVSLVRKNREPRFLDYLSDLCVSMNKSIPVTQELICKAVLNPT
NADILIETKLVLSRFEFEGVSSTGENALEAGEDEEEVWLFWRDSNKEIRSKSVRELAQDA
KEGQKEDRDVLSYYRYQLNLFARMCLDRQYLAINEISGQLDVDLILRCMSDENLPYDLRA
SFCRLMLHMHVDRDPQEQVTPVKYARLWSEIPSEIAIDDYDSSGASKDEIKERFAQTMEF
VEEYLRDVVCQRFPFSDKEKNKLTFEVVNLARNLIYFGFYNFSDLLRLTKILLAILDCVH
VTTIFPISKMAKGEENKGNNDVEKLKSSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAA
PEGNVKQAEPEKEDIMVMDTKLKIIEILQFILNVRLDYRISCLLCIFKREFDESNSQTSE
TSSGNSSQEGPSNVPGALDFEHIEEQAEGIFGGSEENTPLDLDDHGGRTFLRVLLHLTMH
DYPPLVSGALQLLFRHFSQRQEVLQAFKQVQLLVTSQDVDNYKQIKQDLDQLRSIVEKSE
LWVYKGQGPDETMDGASGENEHKKTEEGNNKPQKHESTSSYNYRVVKEILIRLSKLCVQE
SASVRKSRKQQQRLLRNMGAHAVVLELLQIPYEKAEDTKMQEIMRLAHEFLQNFCAGNQQ
NQALLHKHINLFLNPGILEAVTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIK
FLQTIVKAEGKFIKKCQDMVMAELVNSGEDVLVFYNDRASFQTLIQMMRSERDRMDENSP
LMYHIHLVELLAVCTEGKNVYTEIKCNSLLPLDDIVRVVTHEDCIPEVKIAYINFLNHCY
VDTEVEMKEIYTSNHMWKLFENFLVDICRACNNTSDRKHADSILEKYVTEIVMSIVTTFF
SSPFSDQSTTLQTRQPVFVQLLQGVFRVYHCNWLMPSQKASVESCIRVLSDVAKSRAIAI
PVDLDSQVNNLFLKSHSIVQKTAMNWRLSARNAARRDSVLAASRDYRNIIERLQDIVSAL
EDRLRPLVQAELSVLVDVLHRPELLFPENTDARRKCESGGFICKLIKHTKQLLEENEEKL
CIKVLQTLREMMTKDRGYGEKLISIDELDNAELPPAPDSENATEELEPSPPLRQLEDHKR
GEALRQVLVNRYYGNVRPSGRRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSL
AEVQCHLDKEGASNLVIDLIMNASSDRVFHESILLAIALLEGGNTTIQHSFFCRLTEDKK
SEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEV
RDQLLEASAATRKAFTTFRREADPDDHYQPGEGTQATADKAKDDLEMSAVITIMQPILRF
LQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEKNVAL
INQTLESLTEYCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNA
SKLLLAIMESRHDSENAERILYNMRPKELVEVIKKAYMQGEVEFEDGENGEDGAASPRNV
GHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEIVRLDRTMEQIVFPV
PSICEFLTKESKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARN
MSFWSSISFNLAVLMNLLVAFFYPFKGVRGGTLEPHWSGLLWTAMLISLAIVIALPKPHG
IRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGTFTRGYRAMVLDVEF
LYHLLYLVICAMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILV
YLFSIVGYLFFKDDFILEVDRLPNETAVPETGESLASEFLFSDVCRVESGENCSSPAPRE
ELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSKEEPLFAARVIYDLL
FFFMVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHI
KEEHNMWHYLCFIVLVKVKDSTEYTGPESYVAEMIKERNLDWFPRMRAMSLVSSDSEGEQ
NELRNLQEKLESTMKLVTNLSGQLSELKDQMTEQRKQKQRIGLLGHPPHMNVNPQQPA

Sequence length

2758

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system Oocyte meiosis Autophagy - animal Apoptosis Cellular senescence Vascular smooth muscle contraction Apelin signaling pathway Osteoclast differentiation Gap junction Platelet activation NOD-like receptor signaling pathway C-type lectin receptor signaling pathway Circadian entrainment Long-term potentiation Retrograde endocannabinoid signaling Glutamatergic synapse Cholinergic synapse Serotonergic synapse Dopaminergic synapse Long-term depression Inflammatory mediator regulation of TRP channels GnRH signaling pathway Estrogen signaling pathway Thyroid hormone synthesis Oxytocin signaling pathway Glucagon signaling pathway Renin secretion Aldosterone synthesis and secretion Cortisol synthesis and secretion Parathyroid hormone synthesis, secretion and action GnRH secretion Cushing syndrome Growth hormone synthesis, secretion and action Salivary secretion Gastric acid secretion Pancreatic secretion Alzheimer disease Parkinson disease Huntington disease Spinocerebellar ataxia Prion disease Pathways of neurodegeneration - multiple diseases Shigellosis Human cytomegalovirus infection Kaposi sarcoma-associated herpesvirus infection Human immunodeficiency virus 1 infection Proteoglycans in cancer Lipid and atherosclerosis		Effects of PIP2 hydrolysis Elevation of cytosolic Ca2+ levels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion cGMP effects Ion homeostasis Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

672

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anterior segment dysgenesis	Likely pathogenic; Pathogenic	rs752281590	RCV001200032
Bilateral congenital mydriasis	Likely pathogenic	rs2469953279	RCV002291348
Gillespie syndrome	Likely pathogenic; Pathogenic	rs2106492882, rs878853171, rs878853172, rs878853173, rs878853174, rs878853175, rs878853176, rs878853177, rs752281590, rs2469879768, rs886039392, rs1553654413, rs1553689752, rs1553758021, rs1559718601, rs1559638068, rs2046415471 View all (2 more)	RCV001650509 RCV000224999 RCV000224993 RCV000224998 RCV000225000 RCV000224994 RCV000224997 RCV000224992 RCV000224995 RCV000224996 RCV003153230 RCV000850563 RCV000625524 RCV000578130 RCV000625707 RCV002311994 RCV000754783 RCV001255609
Intellectual disability	Likely pathogenic	rs2093873717	RCV001260628
ITPR1-associated cerebellar ataxia spectrum disorder	Likely pathogenic; Pathogenic	rs1553758021	RCV000677398
ITPR1-related disorders	Likely pathogenic	rs1559718601	RCV005250102
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs886039392	RCV002278250
Spinocerebellar ataxia type 15/16	Likely pathogenic; Pathogenic	rs2125159710, rs2093873570, rs2125201841, rs797044955, rs869312685, rs886039392, rs121912425, rs1559718601, rs1559603328	RCV001729945 RCV001733872 RCV005624173 RCV003152595 RCV000209834 RCV000850563 RCV000015924 RCV002311994 RCV001334024
Spinocerebellar ataxia type 29	Likely pathogenic; Pathogenic	rs2125159664, rs1443276640, rs2106494596, rs2125272771, rs2125193560, rs797044955, rs863224882, rs752281590, rs869312685, rs1114167316, rs886039392, rs1131691919, rs397514536, rs1322796318, rs1553756062 View all (5 more)	RCV001647136 RCV001647137 RCV001358673 RCV001591749 RCV001706847 RCV000677366 RCV000198932 RCV001542744 RCV000235044 RCV000491057 RCV000677359 RCV005255512 RCV000032772 RCV000677356 RCV000677360 RCV001644763 RCV002311994 RCV002249433 RCV004586923 RCV003447578 RCV005410930

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	rs201519806, rs77764633	RCV005897691 RCV005897700
Atypical behavior	Uncertain significance	rs1553686424	RCV000626776
Autosomal dominant cerebellar ataxia	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs2306875, rs2306877, rs34491089, rs13079522, rs2291862, rs711631, rs901854, rs2125373123, rs200335594, rs41289636, rs61757111, rs186541002, rs143093165, rs182840163, rs577585180 View all (196 more)	RCV000369453 RCV000323015 RCV000341769 RCV000404506 RCV000404711 RCV000288234 RCV000379072 RCV002225202 RCV000314715 RCV000330034 RCV000359508 RCV000312935 RCV000329966 RCV000262699 RCV000286459 RCV000369615 RCV000311267 RCV000292305 RCV000323668 RCV000345995 RCV000395850 RCV000274970 RCV000380738 RCV000283125 RCV000338058 RCV000394984 RCV000363994 RCV000360662 RCV000321283 RCV000371421 RCV000296728 RCV000293120 RCV000348070 RCV000290280 RCV000381228 RCV000302016 RCV000338136 RCV000353281 RCV000275173 RCV000333915 RCV000388442 RCV000383212 RCV000339145 RCV000355675 RCV000405169 RCV000276231 RCV000408404 RCV000378563 RCV000395217 RCV000337863 RCV000399171 RCV000346421 RCV000382900 RCV000288487 RCV000303697 RCV000354482 RCV000366117 RCV000377614 RCV000278808 RCV000405830 RCV000269615 RCV000351628 RCV000333441 RCV000345243 RCV000286854 RCV000384727 RCV000345595 RCV000339840 RCV000318644 RCV000368605 RCV000393000 RCV000362605 RCV000272801 RCV000377924 RCV000335733 RCV000374002 RCV000307533 RCV000334364 RCV000398232 RCV000370599 RCV000298210 RCV000317356 RCV000404837 RCV000403659 RCV000326058 RCV000286727 RCV000352441 RCV000367343 RCV000309347 RCV000266105 RCV000375902 RCV000317907 RCV000308374 RCV000344348 RCV000390602 RCV000301194 RCV000355954 RCV000274895 RCV000384616 RCV000327876 RCV000274072 RCV000289483 RCV000328653 RCV000280503 RCV000312548 RCV000335546 RCV000392997 RCV000326503 RCV000327864 RCV000379114 RCV000278370 RCV000391784 RCV000336374 RCV000396357 RCV000310305 RCV000386490 RCV000286031 RCV000343295 RCV000307174 RCV000339547 RCV000299939 RCV000271563 RCV000402747 RCV000324827 RCV000387446 RCV000402943 RCV000304732 RCV000264786 RCV000261148 RCV000388038 RCV000298414 RCV000287090 RCV000284055 RCV000285083 RCV000300828 RCV000311210 RCV000370789 RCV000324510 RCV000264637 RCV000281830 RCV000348379 RCV000351731 RCV000319710 RCV001145693 RCV001149471 RCV001147145 RCV001148041 RCV001150140 RCV001148042 RCV001150249 RCV001150323 RCV001150139 RCV001147042 RCV001147040 RCV001147041 RCV001151084 RCV001145691 RCV001147043 RCV001144978 RCV001147838 RCV001147931 RCV001148684 RCV001148685 RCV001148686 RCV001150248 RCV001145472 RCV001150322 RCV001150555 RCV001144466 RCV001146384 RCV001151082 RCV001146935 RCV001146936 RCV001146937 RCV001146938 RCV001147839 RCV001147840 RCV001147841 RCV001145083 RCV001147929 RCV001147930 RCV001149469 RCV001149470 RCV001149472 RCV001145188 RCV001145189 RCV001147147 RCV001148039 RCV001148040 RCV001149590 RCV001149591 RCV001149592 RCV001148572 RCV001146738 RCV001147634 RCV001147635 RCV001147636 RCV001147637 RCV001150981 RCV001150982 RCV001150983 RCV001144876 RCV001144877 RCV001144878 RCV001146848 RCV001146849 RCV001146850 RCV001145692 RCV001149166 RCV001147632 RCV001151083 RCV001151085 RCV001144979 RCV001149377 RCV001145082 RCV001145084 RCV001147146
Cerebellar ataxia	Uncertain significance	rs955458642	RCV000850302
Cervical cancer	Benign	rs78169716, rs77764633	RCV005920088 RCV005897702
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Uncertain significance	rs201519806, rs747201343	RCV005897693 RCV005912192
Colon adenocarcinoma	Likely benign	rs553559062	RCV005897689
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	rs6442908, rs201519806, rs77764633	RCV005916598 RCV005897690 RCV005897699
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs201519806, rs201621621	RCV005897694 RCV005905934
Hepatocellular carcinoma	Benign	rs76604555	RCV005925016
ITPR1-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs371420259, rs779986666, rs376816678, rs201949292, rs766019080, rs771026165, rs570295932, rs34491089, rs199890939, rs2125232528, rs200605212, rs779086270, rs372672483, rs767821093, rs758670524 View all (59 more)	RCV003966181 RCV003980714 RCV003956268 RCV003956314 RCV003416438 RCV004731174 RCV004753450 RCV003964981 RCV004753425 RCV003394300 RCV003401861 RCV003911078 RCV003951155 RCV003951070 RCV003933340 RCV003943739 RCV003898780 RCV003898861 RCV003907569 RCV003973698 RCV003982926 RCV003928944 RCV003955079 RCV003903719 RCV003916489 RCV003973451 RCV003957430 RCV003930167 RCV003420662 RCV003410656 RCV003429057 RCV003922510 RCV003957784 RCV003950216 RCV003972462 RCV003910361 RCV003912459 RCV003932397 RCV003910362 RCV003912458 RCV004752867 RCV003957788 RCV003950215 RCV004753710 RCV003898928 RCV003897093 RCV003929765 RCV003893714 RCV003894324 RCV003899503 RCV003914065 RCV003924519 RCV003936977 RCV003959155 RCV004752926 RCV003962432 RCV003942691 RCV003935366 RCV004752963 RCV003938052 RCV003953256 RCV003957981 RCV004753087 RCV003958150 RCV003970435 RCV003950765 RCV004753119 RCV003962905 RCV003411935 RCV003943298 RCV003906127 RCV003906183 RCV003953529 RCV003963186
ITPR1-related syndromic and non-syndromic hereditary ataxias	Conflicting classifications of pathogenicity; Uncertain significance	rs1064796252, rs749571656, rs2047817291	RCV002466761 RCV001095732 RCV001270762
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs78169716, rs368957292, rs201519806	RCV005920090 RCV005932117 RCV005897697
Malignant lymphoma, large B-cell, diffuse	Benign	rs2306876, rs76604555	RCV005918467 RCV005925017
Malignant tumor of esophagus	Benign	rs77764633	RCV005897701
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs201519806	RCV005897692
Melanoma	Conflicting classifications of pathogenicity	rs201519806	RCV005897696
Movement disorder	Uncertain significance	rs1553686424	RCV000626776
Multiple sclerosis	Benign; Likely benign	rs143093165	RCV005052806
Progressive gait ataxia	Uncertain significance	rs1553686424	RCV000626776
Sarcoma	Benign	rs17041208	RCV005918090
See cases	Benign; Likely benign	rs200335594, rs201937660	RCV002252017 RCV002252314
Slurred speech	Uncertain significance	rs1553686424	RCV000626776
Spastic ataxia	Conflicting classifications of pathogenicity	rs750473506	RCV001644777
Thymoma	Benign; Conflicting classifications of pathogenicity	rs78169716, rs76604555, rs201519806	RCV005920089 RCV005925019 RCV005897695
Thyroid cancer, nonmedullary, 1	Benign	rs200534989	RCV005897679
Uterine carcinosarcoma	Benign	rs76604555	RCV005925018
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs142949720, rs13086334, rs17041208, rs78169716, rs28565126, rs201519806	RCV005917565 RCV005915245 RCV005918091 RCV005920091 RCV005897688 RCV005897698

Show/Hide Text Mining Associations (52)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	32869505, 32998713
Alzheimer Disease	Associate	33213512
Amyotrophic Lateral Sclerosis	Associate	30778698
Aniridia cerebellar ataxia mental deficiency	Associate	27108797, 28698159, 30249237, 33949769, 35118825, 35743164, 37705153
Ataxia	Associate	21555639, 28698159, 29196976, 29925855, 36233161, 37821226
Autism Spectrum Disorder	Associate	32807774
Autistic Disorder	Associate	32499604
Azoospermia	Associate	38072953
Breast Neoplasms	Associate	32649310, 35328381, 37391438
Breast Neoplasms	Inhibit	33742056, 35313846
Cerebellar Ataxia	Associate	21555639, 22986007, 28698159, 29186133
Cerebellar Diseases	Associate	28698159, 35743164, 36233161
Cerebellar Hypoplasia	Associate	35743164, 36305856
Cerebral Palsy Ataxic Autosomal Recessive	Associate	25981959
Cognition Disorders	Associate	29196976, 33942972
Developmental Disabilities	Associate	33168985
Edema	Associate	25069764
Esophageal Squamous Cell Carcinoma	Associate	35611939, 35839283
Facial Pain	Associate	37821226
Fever	Stimulate	11861640
Goldenhar Syndrome	Associate	37821226
Heart Failure	Associate	22701570
Huntington Disease	Associate	36902304
Hydrops Fetalis	Associate	37705153
Intellectual Disability	Associate	37821226
Iris Diseases	Associate	28698159
Leukemia Lymphoma Adult T Cell	Associate	37832654
Lymphoma Large B Cell Diffuse	Associate	23681227
Machado Joseph Disease	Associate	20437544
Malformations of Cortical Development	Associate	36233161
Melanoma Cutaneous Malignant	Associate	30596980
Neoplasm Metastasis	Stimulate	35313846
Neoplasm Metastasis	Associate	37820992
Neoplasms	Associate	23681227
Osteosarcoma	Associate	37353812
Pre Eclampsia	Inhibit	20178461
Progeria	Associate	34298947
Prostatic Neoplasms	Associate	25740420
Renal Insufficiency	Associate	38072953
Reticular dysgenesis	Associate	40064387
Sezary Syndrome	Associate	27039262
Sleep Deprivation	Associate	25740420
Small Cell Lung Carcinoma	Stimulate	37820992
Spastic Paraplegia Hereditary	Associate	30778698
Spinocerebellar Ataxia 11	Associate	37301203
Spinocerebellar Ataxia 15	Associate	21555639, 22986007, 37705153
Spinocerebellar Ataxia 29	Associate	22986007, 29196976, 29925855, 30429331, 37705153, 37821226
Spinocerebellar Ataxias	Associate	35743164, 37301203, 37821226, 39456985
Spinocerebellar Degenerations	Associate	29186133, 29925855, 30429331
Squamous Cell Carcinoma of Head and Neck	Associate	33227411
Thyroid Neoplasms	Associate	35459137
Vitiligo	Associate	36157881

ITPR1 (inositol 1,4,5-trisphosphate receptor type 1)