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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3709
Gene name Gene Name - the full gene name approved by the HGNC.	Inositol 1,4,5-trisphosphate receptor type 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ITPR2
Synonyms (NCBI Gene) Gene synonyms aliases	ANHD, CFAP48, INSP3R2, IP3R2
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p11.23
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35862420	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs786204832	C>T	Pathogenic	Downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant

Show/Hide all(175)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016967	hsa-miR-335-5p	Microarray	18185580
MIRT043084	hsa-miR-324-5p	CLASH	23622248
MIRT036984	hsa-miR-877-3p	CLASH	23622248
MIRT036656	hsa-miR-935	CLASH	23622248
MIRT721897	hsa-miR-4793-5p	HITS-CLIP	19536157
MIRT721896	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT721895	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT721894	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT721893	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT721892	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT721891	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT721890	hsa-miR-187-3p	HITS-CLIP	19536157
MIRT721889	hsa-miR-1913	HITS-CLIP	19536157
MIRT721888	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT721897	hsa-miR-4793-5p	HITS-CLIP	19536157
MIRT721896	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT721895	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT721894	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT721893	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT721892	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT721891	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT721890	hsa-miR-187-3p	HITS-CLIP	19536157
MIRT721889	hsa-miR-1913	HITS-CLIP	19536157
MIRT721888	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT1075041	hsa-miR-106a	CLIP-seq
MIRT1075042	hsa-miR-106b	CLIP-seq
MIRT1075043	hsa-miR-1205	CLIP-seq
MIRT1075044	hsa-miR-1252	CLIP-seq
MIRT1075045	hsa-miR-1256	CLIP-seq
MIRT1075046	hsa-miR-1283	CLIP-seq
MIRT1075047	hsa-miR-1286	CLIP-seq
MIRT1075048	hsa-miR-129-3p	CLIP-seq
MIRT1075049	hsa-miR-145	CLIP-seq
MIRT1075050	hsa-miR-146b-3p	CLIP-seq
MIRT1075051	hsa-miR-17	CLIP-seq
MIRT1075052	hsa-miR-181a	CLIP-seq
MIRT1075053	hsa-miR-181b	CLIP-seq
MIRT1075054	hsa-miR-181c	CLIP-seq
MIRT1075055	hsa-miR-181d	CLIP-seq
MIRT1075056	hsa-miR-20a	CLIP-seq
MIRT1075057	hsa-miR-20b	CLIP-seq
MIRT1075058	hsa-miR-216a	CLIP-seq
MIRT1075059	hsa-miR-216b	CLIP-seq
MIRT1075060	hsa-miR-224	CLIP-seq
MIRT1075061	hsa-miR-300	CLIP-seq
MIRT1075062	hsa-miR-3064-3p	CLIP-seq
MIRT1075063	hsa-miR-3124-3p	CLIP-seq
MIRT1075064	hsa-miR-3143	CLIP-seq
MIRT1075065	hsa-miR-3162-3p	CLIP-seq
MIRT1075066	hsa-miR-3189-3p	CLIP-seq
MIRT1075067	hsa-miR-3202	CLIP-seq
MIRT1075068	hsa-miR-329	CLIP-seq
MIRT1075069	hsa-miR-340	CLIP-seq
MIRT1075070	hsa-miR-362-3p	CLIP-seq
MIRT1075071	hsa-miR-3646	CLIP-seq
MIRT1075072	hsa-miR-3651	CLIP-seq
MIRT1075073	hsa-miR-3662	CLIP-seq
MIRT1075074	hsa-miR-3671	CLIP-seq
MIRT1075075	hsa-miR-3685	CLIP-seq
MIRT1075076	hsa-miR-3689a-3p	CLIP-seq
MIRT1075077	hsa-miR-3689c	CLIP-seq
MIRT1075078	hsa-miR-381	CLIP-seq
MIRT1075079	hsa-miR-384	CLIP-seq
MIRT1075080	hsa-miR-3938	CLIP-seq
MIRT1075081	hsa-miR-4262	CLIP-seq
MIRT1075082	hsa-miR-4418	CLIP-seq
MIRT1075083	hsa-miR-4477a	CLIP-seq
MIRT1075084	hsa-miR-4533	CLIP-seq
MIRT1075085	hsa-miR-4687-5p	CLIP-seq
MIRT1075086	hsa-miR-4698	CLIP-seq
MIRT1075087	hsa-miR-4722-5p	CLIP-seq
MIRT1075088	hsa-miR-4753-3p	CLIP-seq
MIRT1075089	hsa-miR-4764-3p	CLIP-seq
MIRT1075090	hsa-miR-4766-5p	CLIP-seq
MIRT1075091	hsa-miR-502-5p	CLIP-seq
MIRT1075092	hsa-miR-509-3-5p	CLIP-seq
MIRT1075093	hsa-miR-509-5p	CLIP-seq
MIRT1075094	hsa-miR-519d	CLIP-seq
MIRT1075095	hsa-miR-526b	CLIP-seq
MIRT1075096	hsa-miR-543	CLIP-seq
MIRT1075097	hsa-miR-548n	CLIP-seq
MIRT1075098	hsa-miR-548t	CLIP-seq
MIRT1075099	hsa-miR-656	CLIP-seq
MIRT1075100	hsa-miR-873	CLIP-seq
MIRT1075101	hsa-miR-93	CLIP-seq
MIRT2018598	hsa-miR-1178	CLIP-seq
MIRT2018599	hsa-miR-1245b-3p	CLIP-seq
MIRT1075063	hsa-miR-3124-3p	CLIP-seq
MIRT2018600	hsa-miR-3171	CLIP-seq
MIRT1075066	hsa-miR-3189-3p	CLIP-seq
MIRT1075076	hsa-miR-3689a-3p	CLIP-seq
MIRT1075077	hsa-miR-3689c	CLIP-seq
MIRT2018601	hsa-miR-3973	CLIP-seq
MIRT2018602	hsa-miR-4277	CLIP-seq
MIRT2018603	hsa-miR-4330	CLIP-seq
MIRT2018604	hsa-miR-4653-3p	CLIP-seq
MIRT2018605	hsa-miR-4699-3p	CLIP-seq
MIRT2018606	hsa-miR-4781-3p	CLIP-seq
MIRT1075091	hsa-miR-502-5p	CLIP-seq
MIRT2018607	hsa-miR-548a-3p	CLIP-seq
MIRT2018608	hsa-miR-548e	CLIP-seq
MIRT2018609	hsa-miR-548f	CLIP-seq
MIRT2018610	hsa-miR-580	CLIP-seq
MIRT2250424	hsa-miR-1265	CLIP-seq
MIRT2250425	hsa-miR-1275	CLIP-seq
MIRT2250426	hsa-miR-135a	CLIP-seq
MIRT2250427	hsa-miR-135b	CLIP-seq
MIRT2250428	hsa-miR-150	CLIP-seq
MIRT1075061	hsa-miR-300	CLIP-seq
MIRT2250429	hsa-miR-3122	CLIP-seq
MIRT2250430	hsa-miR-3151	CLIP-seq
MIRT2250431	hsa-miR-3153	CLIP-seq
MIRT2250432	hsa-miR-3163	CLIP-seq
MIRT2250433	hsa-miR-3175	CLIP-seq
MIRT2250434	hsa-miR-3194-3p	CLIP-seq
MIRT2250435	hsa-miR-326	CLIP-seq
MIRT2250436	hsa-miR-330-5p	CLIP-seq
MIRT1075069	hsa-miR-340	CLIP-seq
MIRT2250437	hsa-miR-375	CLIP-seq
MIRT1075078	hsa-miR-381	CLIP-seq
MIRT2250438	hsa-miR-3913-5p	CLIP-seq
MIRT2250439	hsa-miR-4269	CLIP-seq
MIRT2250440	hsa-miR-4279	CLIP-seq
MIRT2250441	hsa-miR-4317	CLIP-seq
MIRT2250442	hsa-miR-4447	CLIP-seq
MIRT2250443	hsa-miR-4472	CLIP-seq
MIRT2250444	hsa-miR-4474-5p	CLIP-seq
MIRT2250445	hsa-miR-4514	CLIP-seq
MIRT2250446	hsa-miR-4525	CLIP-seq
MIRT2250447	hsa-miR-4665-5p	CLIP-seq
MIRT2250448	hsa-miR-4668-5p	CLIP-seq
MIRT2250449	hsa-miR-4692	CLIP-seq
MIRT1075086	hsa-miR-4698	CLIP-seq
MIRT2250450	hsa-miR-4713-5p	CLIP-seq
MIRT2250451	hsa-miR-4715-3p	CLIP-seq
MIRT2250452	hsa-miR-4723-5p	CLIP-seq
MIRT2250453	hsa-miR-4742-5p	CLIP-seq
MIRT2250454	hsa-miR-4778-3p	CLIP-seq
MIRT2250455	hsa-miR-491-5p	CLIP-seq
MIRT2250456	hsa-miR-494	CLIP-seq
MIRT2250457	hsa-miR-495	CLIP-seq
MIRT2250458	hsa-miR-532-3p	CLIP-seq
MIRT2250459	hsa-miR-548an	CLIP-seq
MIRT2250460	hsa-miR-624	CLIP-seq
MIRT2250461	hsa-miR-625	CLIP-seq
MIRT2250462	hsa-miR-664	CLIP-seq
MIRT2250463	hsa-miR-934	CLIP-seq
MIRT2250464	hsa-miR-940	CLIP-seq
MIRT2250465	hsa-miR-942	CLIP-seq
MIRT2438042	hsa-miR-2113	CLIP-seq
MIRT2438043	hsa-miR-218	CLIP-seq
MIRT2438044	hsa-miR-3647-3p	CLIP-seq
MIRT2554010	hsa-miR-15a	CLIP-seq
MIRT2554011	hsa-miR-15b	CLIP-seq
MIRT2554012	hsa-miR-16	CLIP-seq
MIRT2554013	hsa-miR-195	CLIP-seq
MIRT2554014	hsa-miR-298	CLIP-seq
MIRT2554015	hsa-miR-3174	CLIP-seq
MIRT2554016	hsa-miR-424	CLIP-seq
MIRT2554017	hsa-miR-4287	CLIP-seq
MIRT2554018	hsa-miR-4469	CLIP-seq
MIRT2554019	hsa-miR-4519	CLIP-seq
MIRT2554020	hsa-miR-4685-3p	CLIP-seq
MIRT2250450	hsa-miR-4713-5p	CLIP-seq
MIRT2554021	hsa-miR-4765	CLIP-seq
MIRT2554022	hsa-miR-497	CLIP-seq
MIRT2554010	hsa-miR-15a	CLIP-seq
MIRT2554011	hsa-miR-15b	CLIP-seq
MIRT2554012	hsa-miR-16	CLIP-seq
MIRT2554013	hsa-miR-195	CLIP-seq
MIRT2554015	hsa-miR-3174	CLIP-seq
MIRT2554016	hsa-miR-424	CLIP-seq
MIRT2554019	hsa-miR-4519	CLIP-seq
MIRT2554021	hsa-miR-4765	CLIP-seq
MIRT2554022	hsa-miR-497	CLIP-seq

Show/Hide all(54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	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	IEA
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	8081734
GO:0005262	Function	Calcium channel activity	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	10828023
GO:0005938	Component	Cell cortex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007165	Process	Signal transduction	TAS	8081734
GO:0015085	Function	Calcium ion transmembrane transporter activity	IEA
GO:0015085	Function	Calcium ion transmembrane transporter activity	TAS	8081734
GO:0015278	Function	Intracellularly gated calcium channel activity	IEA
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:0030658	Component	Transport vesicle membrane	IEA
GO:0030667	Component	Secretory granule membrane	IBA
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:0033017	Component	Sarcoplasmic reticulum membrane	IMP	10828023
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035091	Function	Phosphatidylinositol binding	IBA
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0044325	Function	Transmembrane transporter binding	IPI	18068335
GO:0046872	Function	Metal ion binding	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	ISS
GO:0055085	Process	Transmembrane transport	IEA
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:0071320	Process	Cellular response to cAMP	IEA
GO:0071361	Process	Cellular response to ethanol	IEA
GO:0097110	Function	Scaffold protein binding	IPI	11782428

MIM	HGNC	e!Ensembl
600144	6181	ENSG00000123104

Protein

UniProt ID

Q14571

Protein name

Inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 (IP3 receptor isoform 2) (IP3R 2) (InsP3R2) (Inositol 1,4,5-trisphosphate receptor type 2) (Type 2 inositol 1,4,5-trisphosphate receptor) (Type 2 InsP3 receptor)

Protein function

Inositol 1,4,5-trisphosphate-gated calcium channel that upon inositol 1,4,5-trisphosphate binding transports calcium from the endoplasmic reticulum lumen to cytoplasm. Exists in two states; a long-lived closed state where the channel is essentia

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 → 434	MIR domain	Domain
PF01365	RYDR_ITPR	473 → 670	RIH domain	Family
PF01365	RYDR_ITPR	1182 → 1345	RIH domain	Family
PF08454	RIH_assoc	1912 → 2022	RyR and IP3R Homology associated	Family
PF00520	Ion_trans	2260 → 2552	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: [Isoform Short]: Found in skeletal muscle and heart. {ECO:0000269|PubMed:9729462}.

Sequence

MTEKMSSFLYIGDIVSLYAEGSVNGFISTLGLVDDRCVVHPEAGDLANPPKKFRDCLFKV
CPMNRYSAQKQYWKAKQAKQGNHTEAALLKKLQHAAELEQKQNESENKKLLGEIVKYSNV
IQLLHIKSNKYLTVNKRLPALLEKNAMRVSLDAAGNEGSWFYIHPFWKLRSEGDNIVVGD
KVVLMPVNAGQPLHASNIELLDNPGCKEVNAVNCNTSWKITLFMKYSSYREDVLKGGDVV
RLFHAEQEKFLTCDEYEKKQHIFLRTTLRQSATSATSSKALWEIEVVHHDPCRGGAGQWN
SLFRFKHLATGNYLAAELNPDYRDAQNEGKNVRDGVPPTSKKKRQAGEKIMYTLVSVPHG
NDIASLFELDATTLQRADCLVPRNSYVRLRHLCTNTWVTSTSIPIDTDEERPVMLKIGTC
QTKEDKEAFAIVSVPLSEVRDLDFANDANKVLATTVKKLENGTITQNERRFVTKLLEDLI
FFVADVPNNGQEVLDVVITKPNRERQKLMREQNILAQVFGILKAPFKEKAGEGSMLRLED
LGDQRYAPYKYMLRLCYRVLRHSQQDYRKNQEYIAKNFCVMQSQIGYDILAEDTITALLH
NNRKLLEKHITAKEIETFVSLLRRNREPRFLDYLSDLCVSNTTAIPVTQELICKFMLSPG
NADILIQTKVVSMQADNPMESSILSDDIDDEEVWLYWIDSNKEPHGKAIRHLAQEAKEGT
KADLEVLTYYRYQLNLFARMCLDRQYLAINQISTQLSVDLILRCVSDESLPFDLRASFCR
LMLHMHVDRDPQESVVPVRYARLWTEIPTKITIHEYDSITDSSRNDMKRKFALTMEFVEE
YLKEVVNQPFPFGDKEKNKLTFEVVHLARNLIYFGFYSFSELLRLTRTLLAILDIVQAPM
SSYFERLSKFQDGGNNVMRTIHGVGEMMTQMVLSRGSIFPMSVPDVPPSIHPSKQGSPTE
HEDVTVMDTKLKIIEILQFILSVRLDYRISYMLSIYKKEFGEDNDNAETSASGSPDTLLP
SAIVPDIDEIAAQAETMFAGRKEKNPVQLDDEGGRTFLRVLIHLIMHDYPPLLSGALQLL
FKHFSQRAEVLQAFKQVQLLVSNQDVDNYKQIKADLDQLRLTVEKSELWVEKSSNYENGE
IGESQVKGGEEPIEESNILSPVQDGTKKPQIDSNKSNNYRIVKEILIRLSKLCVQNKKCR
NQHQRLLKNMGAHSVVLDLLQIPYEKNDEKMNEVMNLAHTFLQNFCRGNPQNQVLLHKHL
NLFLTPGLLEAETMRHIFMNNYHLCNEISERVVQHFVHCIETHGRHVEYLRFLQTIVKAD
GKYVKKCQDMVMTELINGGEDVLIFYNDRASFPILLHMMCSERDRGDESGPLAYHITLVE
LLAACTEGKNVYTEIKCNSLLPLDDIVRVVTHDDCIPEVKIAYVNFVNHCYVDTEVEMKE
IYTSNHIWKLFENFLVDMARVCNTTTDRKHADIFLEKCVTESIMNIVSGFFNSPFSDNST
SLQTHQPVFIQLLQSAFRIYNCTWPNPAQKASVESCIRTLAEVAKNRGIAIPVDLDSQVN
TLFMKSHSNMVQRAAMGWRLSARSGPRFKEALGGPAWDYRNIIEKLQDVVASLEHQFSPM
MQAEFSVLVDVLYSPELLFPEGSDARIRCGAFMSKLINHTKKLMEKEEKLCIKILQTLRE
MLEKKDSFVEEGNTLRKILLNRYFKGDYSIGVNGHLSGAYSKTAQVGGSFSGQDSDKMGI
SMSDIQCLLDKEGASELVIDVIVNTKNDRIFSEGIFLGIALLEGGNTQTQYSFYQQLHEQ
KKSEKFFKVLYDRMKAAQKEIRSTVTVNTIDLGNKKRDDDNELMTSGPRMRVRDSTLHLK
EGMKGQLTEASSATSKAYCVYRREMDPEIDIMCTGPEAGNTEEKSAEEVTMSPAIAIMQP
ILRFLQLLCENHNRELQNFLRNQNNKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEK
NVALVNQNLESLTEYCQGPCHENQTCIATHESNGIDIIIALILNDINPLGKYRMDLVLQL
KNNASKLLLAIMESRHDSENAERILFNMRPRELVDVMKNAYNQGLECDHGDDEGGDDGVS
PKDVGHNIYILAHQLARHNKLLQQMLKPGSDPDEGDEALKYYANHTAQIEIVRHDRTMEQ
IVFPVPNICEYLTRESKCRVFNTTERDEQGSKVNDFFQQTEDLYNEMKWQKKIRNNPALF
WFSRHISLWGSISFNLAVFINLAVALFYPFGDDGDEGTLSPLFSVLLWIAVAICTSMLFF
FSKPVGIRPFLVSIMLRSIYTIGLGPTLILLGAANLCNKIVFLVSFVGNRGTFTRGYRAV
ILDMAFLYHVAYVLVCMLGLFVHEFFYSFLLFDLVYREETLLNVIKSVTRNGRSIILTAV
LALILVYLFSIIGFLFLKDDFTMEVDRLKNRTPVTGSHQVPTMTLTTMMEACAKENCSPT
IPASNTADEEYEDGIERTCDTLLMCIVTVLNQGLRNGGGVGDVLRRPSKDEPLFAARVVY
DLLFYFIVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVSFE
EHIKSEHNMWHYLYFIVLVKVKDPTEYTGPESYVAQMIVEKNLDWFPRMRAMSLVSNEGD
SEQNEIRSLQEKLESTMSLVKQLSGQLAELKEQMTEQRKNKQRLGFLGSNTPHVNHHMPP
H

Sequence length

2701

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system Oocyte meiosis 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 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 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		Effects of PIP2 hydrolysis Elevation of cytosolic Ca2+ levels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion Ion homeostasis Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Isolated Generalized Anhidrosis With Normal Sweat Glands	Isolated anhidrosis with normal sweat glands	rs786204832	N/A

Show/Hide Unknown Diseases (10)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	N/A	N/A	GWAS
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Breast Cancer	BRCA1/2-negative high-risk breast cancer	N/A	N/A	GWAS
Carcinoma	Basal cell carcinoma	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Hypertension	Hypertension (confirmatory factor analysis Factor 12)	N/A	N/A	GWAS
Kashin-Beck Disease	Kashin-Beck disease	N/A	N/A	GWAS
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Renal Carcinoma	Renal cell carcinoma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	28800327
Asthma	Associate	19409562
Carcinoma Renal Cell	Associate	22010048, 24220910, 25053674, 26551148, 26918600, 27229762, 29899382
Central Cord Syndrome	Associate	24760767
Cognition Disorders	Associate	33942972
Diabetes Mellitus Type 2	Stimulate	28742858
Kashin Beck Disease	Associate	31066235
Leukemia Myeloid Acute	Stimulate	25779662
Lung Neoplasms	Associate	27347718
Lymphoma Large B Cell Diffuse	Associate	23681227, 29899382
Neoplasms	Inhibit	26694163
Non alcoholic Fatty Liver Disease	Associate	36686460
Non alcoholic Fatty Liver Disease	Inhibit	36686460
Obesity	Associate	24760767
Obesity Abdominal	Associate	29998543
Pre Eclampsia	Inhibit	20178461
Pulmonary Disease Chronic Obstructive	Associate	19409562
Sezary Syndrome	Associate	27039262
Squamous Cell Carcinoma of Head and Neck	Associate	26694163
Vascular Diseases	Associate	19409562

ITPR2 (inositol 1,4,5-trisphosphate receptor type 2)