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

Gene

• Entrez ID: 3709
• Gene name: Inositol 1,4,5-trisphosphate receptor type 2
• Gene symbol: ITPR2
• Synonyms (NCBI Gene): ANHD, CFAP48, INSP3R2, IP3R2
• Chromosome: 12
• Chromosome location: 12p11.23
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 600144
• HGNC: 6181
• e!Ensembl: 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

Pathways

KEGG:

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

Reactome:

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

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
Isolated anhidrosis with normal sweat glands	Pathogenic	rs786204832	RCV000169736	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRCAX BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM INFECTIOUS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ITPR2-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMOOTH SURFACE DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	23681227		★☆☆☆☆ Found in Text Mining only
Alexander Disease	Alexander Disease	BEFREE	29383757		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	28800327	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	17827064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	17827064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	17827064, 19464757, 22795786, 24529757		★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	BEFREE	25329695		★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS	Anhidrosis	ORPHANET_DG	25329695		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS	Anhidrosis	UNIPROT_DG	25329695		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS	Anhidrosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS	Anhidrosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriosclerosis	Arteriosclerosis	BEFREE	28365690		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	19409562	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	28365690		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15608674		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15608674		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22010048, 24220910, 25053674, 26551148, 26918600, 27229762, 29899382	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27991861		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	26918600		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33942972	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	24415751		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22010048, 23911636, 25053674, 26551148, 26918600		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28742858	Stimulate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	23681227, 24768714		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	20332427, 26439382, 27184076		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29023819		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29023819		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	28158491		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	24415751		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30460575		★☆☆☆☆ Found in Text Mining only
Isolated generalized anhidrosis with normal sweat glands	Isolated Generalized Anhidrosis With Normal Sweat Glands	Orphanet			★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	25303641, 31066235		★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	GWASCAT_DG	25303641		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26694163		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25779662	Stimulate	★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	30273839		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27347718	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	GWASDB_DG	21642993		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25740420		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15608674		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11032874, 12161107		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11032874		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29023819		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	29023819		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24760767	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25053674		★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	29998543	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25740420		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30460575		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	19409562	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22010048, 23911636, 25053674, 26551148		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	GWASDB_DG	22010048		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	GWASCAT_DG	28598434, 31231134		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17437169		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	27039262	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26694163	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29023819		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	19409562	Associate	★☆☆☆☆ Found in Text Mining only