• Gene id: 3709

Gene Summary

• Gene Symbol: ITPR2   Gene   UCSC   Ensembl
• Aliases: ANHD, CFAP48, INSP3R2, IP3R2
• Gene name: inositol 1,4,5-trisphosphate receptor type 2
• Alternate names: inositol 1,4,5-trisphosphate receptor type 2, IP3 receptor, IP3R 2, cilia and flagella associated protein 48, type 2 InsP3 receptor,
• Gene location: 12p11.23 (26833196: 26335351)     Exons: 62     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 300035

Protein Summary

• Protein general information: Q14571  
  • Name: Inositol 1,4,5 trisphosphate receptor type 2 (IP3 receptor isoform 2) (IP3R 2) (InsP3R2) (Type 2 inositol 1,4,5 trisphosphate receptor) (Type 2 InsP3 receptor)
  • Length: 2701  
  • Mass: 308064
  • Tissue specificity: Isoform Short is found in skeletal muscle and heart.
• Sequence:

  MTEKMSSFLYIGDIVSLYAEGSVNGFISTLGLVDDRCVVHPEAGDLANPPKKFRDCLFKVCPMNRYSAQKQYWKA
  KQAKQGNHTEAALLKKLQHAAELEQKQNESENKKLLGEIVKYSNVIQLLHIKSNKYLTVNKRLPALLEKNAMRVS
  LDAAGNEGSWFYIHPFWKLRSEGDNIVVGDKVVLMPVNAGQPLHASNIELLDNPGCKEVNAVNCNTSWKITLFMK
  YSSYREDVLKGGDVVRLFHAEQEKFLTCDEYEKKQHIFLRTTLRQSATSATSSKALWEIEVVHHDPCRGGAGQWN
  SLFRFKHLATGNYLAAELNPDYRDAQNEGKNVRDGVPPTSKKKRQAGEKIMYTLVSVPHGNDIASLFELDATTLQ
  RADCLVPRNSYVRLRHLCTNTWVTSTSIPIDTDEERPVMLKIGTCQTKEDKEAFAIVSVPLSEVRDLDFANDANK
  VLATTVKKLENGTITQNERRFVTKLLEDLIFFVADVPNNGQEVLDVVITKPNRERQKLMREQNILAQVFGILKAP
  FKEKAGEGSMLRLEDLGDQRYAPYKYMLRLCYRVLRHSQQDYRKNQEYIAKNFCVMQSQIGYDILAEDTITALLH
  NNRKLLEKHITAKEIETFVSLLRRNREPRFLDYLSDLCVSNTTAIPVTQELICKFMLSPGNADILIQTKVVSMQA
  DNPMESSILSDDIDDEEVWLYWIDSNKEPHGKAIRHLAQEAKEGTKADLEVLTYYRYQLNLFARMCLDRQYLAIN
  QISTQLSVDLILRCVSDESLPFDLRASFCRLMLHMHVDRDPQESVVPVRYARLWTEIPTKITIHEYDSITDSSRN
  DMKRKFALTMEFVEEYLKEVVNQPFPFGDKEKNKLTFEVVHLARNLIYFGFYSFSELLRLTRTLLAILDIVQAPM
  SSYFERLSKFQDGGNNVMRTIHGVGEMMTQMVLSRGSIFPMSVPDVPPSIHPSKQGSPTEHEDVTVMDTKLKIIE
  ILQFILSVRLDYRISYMLSIYKKEFGEDNDNAETSASGSPDTLLPSAIVPDIDEIAAQAETMFAGRKEKNPVQLD
  DEGGRTFLRVLIHLIMHDYPPLLSGALQLLFKHFSQRAEVLQAFKQVQLLVSNQDVDNYKQIKADLDQLRLTVEK
  SELWVEKSSNYENGEIGESQVKGGEEPIEESNILSPVQDGTKKPQIDSNKSNNYRIVKEILIRLSKLCVQNKKCR
  NQHQRLLKNMGAHSVVLDLLQIPYEKNDEKMNEVMNLAHTFLQNFCRGNPQNQVLLHKHLNLFLTPGLLEAETMR
  HIFMNNYHLCNEISERVVQHFVHCIETHGRHVEYLRFLQTIVKADGKYVKKCQDMVMTELINGGEDVLIFYNDRA
  SFPILLHMMCSERDRGDESGPLAYHITLVELLAACTEGKNVYTEIKCNSLLPLDDIVRVVTHDDCIPEVKIAYVN
  FVNHCYVDTEVEMKEIYTSNHIWKLFENFLVDMARVCNTTTDRKHADIFLEKCVTESIMNIVSGFFNSPFSDNST
  SLQTHQPVFIQLLQSAFRIYNCTWPNPAQKASVESCIRTLAEVAKNRGIAIPVDLDSQVNTLFMKSHSNMVQRAA
  MGWRLSARSGPRFKEALGGPAWDYRNIIEKLQDVVASLEHQFSPMMQAEFSVLVDVLYSPELLFPEGSDARIRCG
  AFMSKLINHTKKLMEKEEKLCIKILQTLREMLEKKDSFVEEGNTLRKILLNRYFKGDYSIGVNGHLSGAYSKTAQ
  VGGSFSGQDSDKMGISMSDIQCLLDKEGASELVIDVIVNTKNDRIFSEGIFLGIALLEGGNTQTQYSFYQQLHEQ
  KKSEKFFKVLYDRMKAAQKEIRSTVTVNTIDLGNKKRDDDNELMTSGPRMRVRDSTLHLKEGMKGQLTEASSATS
  KAYCVYRREMDPEIDIMCTGPEAGNTEEKSAEEVTMSPAIAIMQPILRFLQLLCENHNRELQNFLRNQNNKTNYN
  LVCETLQFLDCICGSTTGGLGLLGLYINEKNVALVNQNLESLTEYCQGPCHENQTCIATHESNGIDIIIALILND
  INPLGKYRMDLVLQLKNNASKLLLAIMESRHDSENAERILFNMRPRELVDVMKNAYNQGLECDHGDDEGGDDGVS
  PKDVGHNIYILAHQLARHNKLLQQMLKPGSDPDEGDEALKYYANHTAQIEIVRHDRTMEQIVFPVPNICEYLTRE
  SKCRVFNTTERDEQGSKVNDFFQQTEDLYNEMKWQKKIRNNPALFWFSRHISLWGSISFNLAVFINLAVALFYPF
  GDDGDEGTLSPLFSVLLWIAVAICTSMLFFFSKPVGIRPFLVSIMLRSIYTIGLGPTLILLGAANLCNKIVFLVS
  FVGNRGTFTRGYRAVILDMAFLYHVAYVLVCMLGLFVHEFFYSFLLFDLVYREETLLNVIKSVTRNGRSIILTAV
  LALILVYLFSIIGFLFLKDDFTMEVDRLKNRTPVTGSHQVPTMTLTTMMEACAKENCSPTIPASNTADEEYEDGI
  ERTCDTLLMCIVTVLNQGLRNGGGVGDVLRRPSKDEPLFAARVVYDLLFYFIVIIIVLNLIFGVIIDTFADLRSE
  KQKKEEILKTTCFICGLERDKFDNKTVSFEEHIKSEHNMWHYLYFIVLVKVKDPTEYTGPESYVAQMIVEKNLDW
  FPRMRAMSLVSNEGDSEQNEIRSLQEKLESTMSLVKQLSGQLAELKEQMTEQRKNKQRLGFLGSNTPHVNHHMPP
  H

• Structural information:
  • Protein Domains: (112..16-)
    (/note="MIR-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (173..22-)
    (/note="MIR-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (231..28-)
    (/note="MIR-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (-)
  • Interpro: IPR016024  IPR014821  IPR000493  IPR005821  IPR036300   IPR016093  IPR013662  IPR000699  IPR035910  
  • Prosite: PS50919
  • STRING: ENSP00000370744
• Other Databases: GeneCards:  ITPR2  Malacards:  ITPR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044325	ion channel binding	IPI	molecular function
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0016529	sarcoplasmic reticulum	IBA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IBA	cellular component
GO:0070679	inositol 1,4,5 trisphosphate binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0030667	secretory granule membrane	IBA	cellular component
GO:0035091	phosphatidylinositol binding	IBA	molecular function
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0070679	inositol 1,4,5 trisphosphate binding	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	TAS	molecular function
GO:0015085	calcium ion transmembrane transporter activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0031095	platelet dense tubular network membrane	TAS	cellular component
GO:0031095	platelet dense tubular network membrane	TAS	cellular component
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0030168	platelet activation	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0071320	cellular response to cAMP	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0005938	cell cortex	IEA	cellular component
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IEA	molecular function
GO:0071361	cellular response to ethanol	IEA	biological process
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0015278	calcium-release channel activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISS	molecular function
GO:0051209	release of sequestered calcium ion into cytosol	ISS	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IMP	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0097110	scaffold protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05012	Parkinson disease
hsa05131	Shigellosis
hsa05163	Human cytomegalovirus infection
hsa04020	Calcium signaling pathway
hsa05170	Human immunodeficiency virus 1 infection
hsa05205	Proteoglycans in cancer
hsa04022	cGMP-PKG signaling pathway
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04621	NOD-like receptor signaling pathway
hsa04723	Retrograde endocannabinoid signaling
hsa05017	Spinocerebellar ataxia
hsa04934	Cushing syndrome
hsa04921	Oxytocin signaling pathway
hsa04371	Apelin signaling pathway
hsa04218	Cellular senescence
hsa04728	Dopaminergic synapse
hsa04724	Glutamatergic synapse
hsa04270	Vascular smooth muscle contraction
hsa04114	Oocyte meiosis
hsa04611	Platelet activation
hsa04210	Apoptosis
hsa04725	Cholinergic synapse
hsa04070	Phosphatidylinositol signaling system
hsa04935	Growth hormone synthesis, secretion and action
hsa04915	Estrogen signaling pathway
hsa04726	Serotonergic synapse
hsa04922	Glucagon signaling pathway
hsa04625	C-type lectin receptor signaling pathway
hsa04925	Aldosterone synthesis and secretion
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04972	Pancreatic secretion
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04970	Salivary secretion
hsa04912	GnRH signaling pathway
hsa04540	Gap junction
hsa04971	Gastric acid secretion
hsa04918	Thyroid hormone synthesis
hsa04720	Long-term potentiation
hsa04924	Renin secretion
hsa04927	Cortisol synthesis and secretion
hsa04929	GnRH secretion
hsa04730	Long-term depression

Diseases

Associated diseases	References
Isolated anhidrosis with normal sweat glands	KEGG:H02281
Isolated anhidrosis with normal sweat glands	KEGG:H02281
Amyotrophic lateral sclerosis	PMID:17827064
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881