RYR2 ryanodine receptor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RYR2provided by HGNC
Official Full Name: ryanodine receptor 2provided by HGNC
Primary source: HGNC:HGNC:10484
See related: Ensembl:ENSG00000198626 MIM:180902
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RyR; ARVC2; ARVD2; RYR-2; VTSIP
Summary: This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]
Expression: Biased expression in heart (RPKM 47.0) and brain (RPKM 4.2) See more
Orthologs: mouse all

Genomic context

Location:: 1q43

Exon count:: 107

Annotation release	Status	Assembly	Chr	Location
109.20200522	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (237042184..237833988)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (237205510..237997288)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ryr2 expression is upregulated by mir106-25 during atrial fibrillation.
Title: Increased expression of ryanodine receptor type-2 during atrial fibrillation by miR-106-25 cluster independent mechanism.
RYR2 rs16835904 TC-TT genotype facilitated the risk of astrocytoma in male. RYR2 rs12594 AA genotype and AG genotype were associated with overall survival of astrocytoma.
Title: LPP and RYR2 Gene Polymorphisms Correlate with the Risk and the Prognosis of Astrocytoma.
A novel and de novo occurring mutation (both parents tested negative) in the cardiac ryanodine receptor gene RyR2 was detected.Mutations in this channel may result in the catecholaminergic polymorphic ventricular tachycardia (CPVT), a cardiac arrhythmia that can lead to syncope and sudden cardiac death.
Title: Sudden unexpected cardiac death and postmortem identification of a novel RYR2 gene mutation.
The authors discovered that a significant role of Kv2.1 at neuronal endoplasmic reticulum-plasma membrane junctions is to promote the clustering and functional coupling of plasma membrane L-type Ca(2+) channels (LTCCs) to ryanodine receptor (RyR) endoplasmic reticulum Ca(2+) release channels.
Title: Kv2.1 mediates spatial and functional coupling of L-type calcium channels and ryanodine receptors in mammalian neurons.
Detection of RYR2 expression and/or promoter methylation might enable risk assessment for malignant conversion of dysplastic lesions.
Title: Somatic mutations and promotor methylation of the ryanodine receptor 2 is a common event in the pathogenesis of head and neck cancer.
results support a binding model where the CaM C-domain is anchored to RyR2 CaMBD2 and saturated with Ca(2+) during Ca(2+) oscillations, while the CaM N-domain functions as a dynamic Ca(2+) sensor that can bridge noncontiguous regions of RyR2 or clamp down onto CaMBD2.
Title: Ca<sup>2+</sup>-dependent calmodulin binding to cardiac ryanodine receptor (RyR2) calmodulin-binding domains.
Structural analysis revealed that the A165D mutation is located in a loop that is involved in inter-subunit interactions in the RyR2 tetrameric structure.
Title: Pathogenic mechanism of a catecholaminergic polymorphic ventricular tachycardia causing-mutation in cardiac calcium release channel RyR2.
review of the molecular environment of individual amino acid residues that form binding sites for essential modulators of ion channel function and determine its role in Ca 2+ signalling.
Title: Recent advances in understanding the ryanodine receptor calcium release channels and their role in calcium signalling.
We sought to identify genetic alterations in cardiac ion channels in patients with micro-ischemic disease. Genetic analysis with Sanger technology and posterior bioinformatic assessment identified two rare variations with potential pathogenic effects (RyR2_p.M4019T and SCN5A_p.H445D) in two individuals.
Title: Genetic analysis in post-mortem samples with micro-ischemic alterations.
Genetic analysis of the index case identified only one rare novel variant p.Ile11Ser (c.32T>G) in the RyR2 gene. Subsequent familial analysis identified segregation of the genetic variant with the disease. To our knowledge, there has been no previous case report of catecholaminergic polymorphic ventricular tachycardia associated to this missense variant.
Title: A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.

Submit: New GeneRIF Correction See all GeneRIFs (152)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Professional guidelines

Description
Professional guideline ACMG 2013 The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in RYR2 that are pathogenic or expected to be pathogenic. GuidelinePubMed

Associated conditions

Description	Tests
Arrhythmogenic right ventricular dysplasia, familial, 2 MedGen: C1832931 OMIM: 600996 GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy	Compare labs
Catecholaminergic polymorphic ventricular tachycardia type 1 MedGen: C4053736 OMIM: 604772 GeneReviews: Catecholaminergic Polymorphic Ventricular Tachycardia	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated (2015-11-05) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated (2015-11-05) ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
A genome wide association study identifies common variants associated with lipid levels in the Chinese population. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Cerivastatin, genetic variants, and the risk of rhabdomyolysis. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Germline genomic variants associated with childhood acute lymphoblastic leukemia. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat activates RyRs via a calcium- and calpain-mediated mechanism that upregulates DAT trafficking to the PM	PubMed
	tat	Neurons exposed to HIV-1 Tat induces calcium loss from the endoplasmic reticulum via ryanodine receptor (RyR) and increases the phosphorylated levels of PERK, eIF2a, and XBP1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RYR2 (e-PCR)
- UniSTS:503044

RYR2__5535 (e-PCR)
- UniSTS:463879

G19121 (e-PCR)
- UniSTS:42506

SHGC-153844 (e-PCR)
- UniSTS:177952

SHGC-143985 (e-PCR)
- UniSTS:174118

SHGC-81453 (e-PCR)
- UniSTS:103208

SHGC-148923 (e-PCR)
- UniSTS:176684

SHGC-106812 (e-PCR)
- UniSTS:170036

AU047536 (e-PCR)
- UniSTS:110412

AL009781 (e-PCR)
- UniSTS:61521

RH68322 (e-PCR)
- UniSTS:47198

SHGC-149417 (e-PCR)
- UniSTS:176993

HSC2DA032 (e-PCR)
- UniSTS:64873

D1S3582 (e-PCR)
- UniSTS:79722

AL034052 (e-PCR)
- UniSTS:93805

AL033928 (e-PCR)
- UniSTS:93811

G44301 (e-PCR)
- UniSTS:95095

SHGC-149875 (e-PCR)
- UniSTS:177273

SHGC-30442 (e-PCR)
- UniSTS:4484

AFMa045zc5 (e-PCR)
- UniSTS:71568

D1S1567 (e-PCR)
- UniSTS:52624

SHGC-105042 (e-PCR)
- UniSTS:169119

RH119501 (e-PCR)
- UniSTS:133543

G20294 (e-PCR)
- UniSTS:16809

A005K43 (e-PCR)
- UniSTS:16810

SHGC-76523 (e-PCR)
- UniSTS:41136

SHGC-76579 (e-PCR)
- UniSTS:9139

SHGC-106561 (e-PCR)
- UniSTS:169907

SHGC-30836 (e-PCR)
- UniSTS:82101

D1S2330E (e-PCR)
- UniSTS:153781

AL009896 (e-PCR)
- UniSTS:50885

SHGC-68511 (e-PCR)
- UniSTS:95444

SHGC-149192 (e-PCR)
- UniSTS:176854

SHGC-148351 (e-PCR)
- UniSTS:176343

AL009377 (e-PCR)
- UniSTS:80353

AL009368 (e-PCR)
- UniSTS:33765

Ryr2 (e-PCR), detects polymorphism
- UniSTS:144365

AL010068 (e-PCR)
- UniSTS:38902

Homology

Homologs of the RYR2 gene: The RYR2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 280 organisms have orthologs with human gene RYR2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info
calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
calcium-induced calcium release activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
calcium-induced calcium release activity	IDA Inferred from Direct Assay more info	PubMed
calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
calcium-release channel activity	ISS Inferred from Sequence or Structural Similarity more info
calmodulin binding	IDA Inferred from Direct Assay more info	PubMed
calmodulin binding	IMP Inferred from Mutant Phenotype more info	PubMed
calmodulin binding	IPI Inferred from Physical Interaction more info	PubMed
calmodulin binding	ISS Inferred from Sequence or Structural Similarity more info
enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
ion channel binding	ISS Inferred from Sequence or Structural Similarity more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase A catalytic subunit binding	IDA Inferred from Direct Assay more info	PubMed
protein kinase A regulatory subunit binding	IDA Inferred from Direct Assay more info	PubMed
protein self-association	IEA Inferred from Electronic Annotation more info
ryanodine-sensitive calcium-release channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ryanodine-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
suramin binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
Purkinje myocyte to ventricular cardiac muscle cell signaling	ISS Inferred from Sequence or Structural Similarity more info
calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
calcium ion transport into cytosol	IDA Inferred from Direct Assay more info	PubMed
calcium-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info
calcium-mediated signaling using intracellular calcium source	IDA Inferred from Direct Assay more info	PubMed
cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
cardiac muscle hypertrophy	ISS Inferred from Sequence or Structural Similarity more info
cell communication by electrical coupling involved in cardiac conduction	IC Inferred by Curator more info
cellular calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
cellular response to caffeine	IDA Inferred from Direct Assay more info	PubMed
cellular response to caffeine	ISS Inferred from Sequence or Structural Similarity more info
cellular response to epinephrine stimulus	ISS Inferred from Sequence or Structural Similarity more info
cellular response to epinephrine stimulus	TAS Traceable Author Statement more info	PubMed
detection of calcium ion	IDA Inferred from Direct Assay more info	PubMed
embryonic heart tube morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
establishment of protein localization to endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
ion transmembrane transport	TAS Traceable Author Statement more info
left ventricular cardiac muscle tissue morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of calcium-transporting ATPase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of heart rate	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of sequestering of calcium ion	IDA Inferred from Direct Assay more info	PubMed
positive regulation of the force of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of AV node cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of SA node cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of atrial cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of cardiac conduction	TAS Traceable Author Statement more info
regulation of cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of cardiac muscle contraction by calcium ion signaling	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IC Inferred by Curator more info	PubMed
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS Inferred from Sequence or Structural Similarity more info
regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of ventricular cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
release of sequestered calcium ion into cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
release of sequestered calcium ion into cytosol	IDA Inferred from Direct Assay more info	PubMed
release of sequestered calcium ion into cytosol	ISS Inferred from Sequence or Structural Similarity more info
release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
response to caffeine	IDA Inferred from Direct Assay more info	PubMed
response to hypoxia	ISS Inferred from Sequence or Structural Similarity more info
response to muscle activity	IMP Inferred from Mutant Phenotype more info	PubMed
response to muscle stretch	IMP Inferred from Mutant Phenotype more info	PubMed
response to redox state	IDA Inferred from Direct Assay more info	PubMed
sarcoplasmic reticulum calcium ion transport	TAS Traceable Author Statement more info	PubMed
type B pancreatic cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
ventricular cardiac muscle cell action potential	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
Z disc	IBA Inferred from Biological aspect of Ancestor more info	PubMed
Z disc	IDA Inferred from Direct Assay more info	PubMed
Z disc	ISS Inferred from Sequence or Structural Similarity more info
calcium channel complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
calcium channel complex	IDA Inferred from Direct Assay more info	PubMed
cell	IEA Inferred from Electronic Annotation more info
cytoplasmic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
junctional sarcoplasmic reticulum membrane	TAS Traceable Author Statement more info	PubMed
membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
sarcolemma	IBA Inferred from Biological aspect of Ancestor more info	PubMed
sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
sarcoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
sarcoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
sarcoplasmic reticulum membrane	TAS Traceable Author Statement more info	PubMed
smooth endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: ryanodine receptor 2

Names: cardiac muscle ryanodine receptor-calcium release channel; cardiac-type ryanodine receptor; islet-type ryanodine receptor; kidney-type ryanodine receptor; ryanodine receptor 2 (cardiac); type 2 ryanodine receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008799.3 RefSeqGene

Range

5001..796805

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_402

mRNA and Protein(s)

NM_001035.3 → NP_001026.2 ryanodine receptor 2

See identical proteins and their annotated locations for NP_001026.2

Status: REVIEWED

Source sequence(s)

AI218003, AL359924, AL365332, AL391809, AL442065, X98330

Consensus CDS

CCDS55691.1

UniProtKB/Swiss-Prot

Q92736

Related

ENSP00000355533.2, ENST00000366574.7

Conserved Domains (13) summary

smart00472
Location:286 → 376

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:654 → 805

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1086 → 1218

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

pfam00520
Location:4718 → 4878

Ion_trans; Ion transport protein

pfam01365
Location:455 → 643

RYDR_ITPR; RIH domain

pfam02026
Location:2701 → 2791

RyR; RyR domain

pfam02815
Location:226 → 406

MIR; MIR domain

pfam06459
Location:4333 → 4599

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3835 → 3948

RIH_assoc; RyR and IP3R Homology associated

pfam13499
Location:4030 → 4087

EF-hand_7; EF-hand domain pair

cd12879
Location:1412 → 1558

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

cl08302
Location:4030 → 4085

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cl19745
Location:9 → 216

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p13 Primary Assembly

Range

237042184..237833988

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006711802.3 → XP_006711865.1 ryanodine receptor 2 isoform X1

Conserved Domains (13) summary

smart00472
Location:286 → 376

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:654 → 805

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1086 → 1218

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

pfam00520
Location:4736 → 4896

Ion_trans; Ion transport protein

pfam01365
Location:455 → 643

RYDR_ITPR; RIH domain

pfam02026
Location:2711 → 2801

RyR; RyR domain

pfam02815
Location:226 → 406

MIR; MIR domain

pfam06459
Location:4351 → 4617

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3853 → 3966

RIH_assoc; RyR and IP3R Homology associated

pfam13499
Location:4048 → 4105

EF-hand_7; EF-hand domain pair

cd12879
Location:1412 → 1568

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

cl08302
Location:4048 → 4103

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cl19745
Location:9 → 216

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_006711810.3 → XP_006711873.1 ryanodine receptor 2 isoform X9

Conserved Domains (13) summary

smart00472
Location:286 → 376

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:654 → 805

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1085 → 1217

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

pfam00520
Location:4705 → 4865

Ion_trans; Ion transport protein

pfam01365
Location:455 → 643

RYDR_ITPR; RIH domain

pfam02026
Location:2700 → 2790

RyR; RyR domain

pfam02815
Location:226 → 406

MIR; MIR domain

pfam06459
Location:4320 → 4586

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3822 → 3935

RIH_assoc; RyR and IP3R Homology associated

pfam13499
Location:4017 → 4074

EF-hand_7; EF-hand domain pair

cd12879
Location:1411 → 1557

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

cl08302
Location:4017 → 4072

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cl19745
Location:9 → 216

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_006711804.3 → XP_006711867.1 ryanodine receptor 2 isoform X4

Conserved Domains (13) summary

smart00472
Location:286 → 376

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:654 → 805

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1086 → 1218

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

pfam00520
Location:4728 → 4888

Ion_trans; Ion transport protein

pfam01365
Location:455 → 643

RYDR_ITPR; RIH domain

pfam02026
Location:2711 → 2801

RyR; RyR domain

pfam02815
Location:226 → 406

MIR; MIR domain

pfam06459
Location:4343 → 4609

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3845 → 3958

RIH_assoc; RyR and IP3R Homology associated

pfam13499
Location:4040 → 4097

EF-hand_7; EF-hand domain pair

cd12879
Location:1412 → 1568

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

cl08302
Location:4040 → 4095

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cl19745
Location:9 → 216

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_006711806.3 → XP_006711869.1 ryanodine receptor 2 isoform X6

Conserved Domains (13) summary

smart00472
Location:286 → 376

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:654 → 805

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1086 → 1218

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

pfam00520
Location:4724 → 4884

Ion_trans; Ion transport protein

pfam01365
Location:455 → 643

RYDR_ITPR; RIH domain

pfam02026
Location:2711 → 2801

RyR; RyR domain

pfam02815
Location:226 → 406

MIR; MIR domain

pfam06459
Location:4339 → 4605

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3841 → 3954

RIH_assoc; RyR and IP3R Homology associated

pfam13499
Location:4036 → 4093

EF-hand_7; EF-hand domain pair

cd12879
Location:1412 → 1568

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

cl08302
Location:4036 → 4091

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cl19745
Location:9 → 216

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_006711807.3 → XP_006711870.1 ryanodine receptor 2 isoform X7

Conserved Domains (13) summary

smart00472
Location:286 → 376

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:654 → 805

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1086 → 1218

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

pfam00520
Location:4716 → 4876

Ion_trans; Ion transport protein

pfam01365
Location:455 → 643

RYDR_ITPR; RIH domain

pfam02026
Location:2711 → 2801

RyR; RyR domain

pfam02815
Location:226 → 406

MIR; MIR domain

pfam06459
Location:4331 → 4597

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3833 → 3946

RIH_assoc; RyR and IP3R Homology associated

pfam13499
Location:4028 → 4085

EF-hand_7; EF-hand domain pair

cd12879
Location:1412 → 1568

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

cl08302
Location:4028 → 4083

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cl19745
Location:9 → 216

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_006711808.3 → XP_006711871.1 ryanodine receptor 2 isoform X8

Conserved Domains (13) summary

smart00472
Location:286 → 376

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:654 → 805

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1086 → 1218

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

pfam00520
Location:4657 → 4817

Ion_trans; Ion transport protein

pfam01365
Location:455 → 643

RYDR_ITPR; RIH domain

pfam02026
Location:2711 → 2801

RyR; RyR domain

pfam02815
Location:226 → 406

MIR; MIR domain

pfam06459
Location:4272 → 4538

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3774 → 3887

RIH_assoc; RyR and IP3R Homology associated

pfam13499
Location:3969 → 4026

EF-hand_7; EF-hand domain pair

cd12879
Location:1412 → 1568

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

cl08302
Location:3969 → 4024

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cl19745
Location:9 → 216

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_006711805.3 → XP_006711868.1 ryanodine receptor 2 isoform X5

UniProtKB/Swiss-Prot

Q92736

Conserved Domains (13) summary

smart00472
Location:286 → 376

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:654 → 805

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1086 → 1218

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

pfam00520
Location:4726 → 4886

Ion_trans; Ion transport protein

pfam01365
Location:455 → 643

RYDR_ITPR; RIH domain

pfam02026
Location:2701 → 2791

RyR; RyR domain

pfam02815
Location:226 → 406

MIR; MIR domain

pfam06459
Location:4341 → 4607

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3843 → 3956

RIH_assoc; RyR and IP3R Homology associated

pfam13499
Location:4038 → 4095

EF-hand_7; EF-hand domain pair

cd12879
Location:1412 → 1558

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

cl08302
Location:4038 → 4093

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cl19745
Location:9 → 216

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_006711803.3 → XP_006711866.1 ryanodine receptor 2 isoform X2

Conserved Domains (13) summary

smart00472
Location:286 → 376

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:654 → 805

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1085 → 1217

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

pfam00520
Location:4735 → 4895

Ion_trans; Ion transport protein

pfam01365
Location:455 → 643

RYDR_ITPR; RIH domain

pfam02026
Location:2710 → 2800

RyR; RyR domain

pfam02815
Location:226 → 406

MIR; MIR domain

pfam06459
Location:4350 → 4616

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3852 → 3965

RIH_assoc; RyR and IP3R Homology associated

pfam13499
Location:4047 → 4104

EF-hand_7; EF-hand domain pair

cd12879
Location:1411 → 1567

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

cl08302
Location:4047 → 4102

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cl19745
Location:9 → 216

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_017002028.1 → XP_016857517.1 ryanodine receptor 2 isoform X3