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; AllianceGenome:HGNC:10484
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; VACRDS
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
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Genomic context

Location:: 1q43

Exon count:: 107

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (237042184..237833988)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (236453199..237245297)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (237205484..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?

The Role of Ryanodine Receptor 2 Polymorphisms in Oral Squamous Cell Carcinoma Susceptibility and Clinicopathological Features.
Title: The Role of Ryanodine Receptor 2 Polymorphisms in Oral Squamous Cell Carcinoma Susceptibility and Clinicopathological Features.
Diverse Phenotypic Manifestations in a Family with a Novel RYR2 E4107A Variant.
Title: Diverse Phenotypic Manifestations in a Family with a Novel RYR2 E4107A Variant.
Loss-of-function W4645R mutation in the RyR2-caffeine binding site: implications for synchrony and arrhythmogenesis.
Title: Loss-of-function W4645R mutation in the RyR2-caffeine binding site: implications for synchrony and arrhythmogenesis.
RYR2 Variant and Sudden Death in Patients With Dilated Cardiomyopathy.
Title: RYR2 Variant and Sudden Death in Patients With Dilated Cardiomyopathy.
Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene.
Title: Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene.
Point mutations in RyR2 Ca2+-binding residues of human cardiomyocytes cause cellular remodelling of cardiac excitation contraction-coupling.
Title: Point mutations in RyR2 Ca2+-binding residues of human cardiomyocytes cause cellular remodelling of cardiac excitation contraction-coupling.
Pediatric myasthenia gravis with a combination of AChR and RyR is associated with an earlier onset and lower CSR rate: A cohort study in southwest China.
Title: Pediatric myasthenia gravis with a combination of AChR and RyR is associated with an earlier onset and lower CSR rate: A cohort study in southwest China.
Calcium Signaling Consequences of RyR2-S4938F Mutation Expressed in Human iPSC-Derived Cardiomyocytes.
Title: Calcium Signaling Consequences of RyR2-S4938F Mutation Expressed in Human iPSC-Derived Cardiomyocytes.
RyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers.
Title: RyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers.
[Clinical and genetic analysis of five children with Catecholaminergic polymorphic ventricular tachycardia due to variants of RYR2 gene].
Title: [Clinical and genetic analysis of five children with Catecholaminergic polymorphic ventricular tachycardia due to variants of RYR2 gene].

Submit: New GeneRIF Correction See all GeneRIFs (209)

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
Catecholaminergic polymorphic ventricular tachycardia 1 MedGen: C1631597 OMIM: 604772 GeneReviews: Catecholaminergic Polymorphic Ventricular Tachycardia	not available
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome MedGen: C5542154 OMIM: 115000 GeneReviews: Not available	not available

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

EBI GWAS Catalog

Description
A genome wide association study identifies common variants associated with lipid levels in the Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Cerivastatin, genetic variants, and the risk of rhabdomyolysis. EBI GWAS Catalog EBI GWAS 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. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. EBI GWAS Catalog EBI GWAS CatalogPubMed
Germline genomic variants associated with childhood acute lymphoblastic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS 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

Gene Ontology Provided by GOA

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

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

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

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

Q15411, Q546N8, Q5T3P2, Q92736

UniProtKB/TrEMBL

A0AAQ5BHB1

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

237042184..237833988

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006711802.4 → XP_006711865.1 ryanodine receptor 2 isoform X1

UniProtKB/TrEMBL

A0A590UJF6

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_006711804.4 → XP_006711867.1 ryanodine receptor 2 isoform X4

UniProtKB/TrEMBL

A0AAQ5BHB1

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_006711806.4 → XP_006711869.1 ryanodine receptor 2 isoform X7

UniProtKB/TrEMBL

A0A590UJZ8

Related

ENSP00000499653.3, ENST00000659194.3

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_006711807.4 → XP_006711870.1 ryanodine receptor 2 isoform X8

UniProtKB/TrEMBL

A0A590UJZ8

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_006711808.4 → XP_006711871.1 ryanodine receptor 2 isoform X9

UniProtKB/TrEMBL

A0A590UJF6

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_047427333.1 → XP_047283289.1 ryanodine receptor 2 isoform X11

UniProtKB/TrEMBL

A0A590UJZ8
XM_047427336.1 → XP_047283292.1 ryanodine receptor 2 isoform X12

UniProtKB/TrEMBL

A0A590UJZ8
XM_006711805.4 → XP_006711868.1 ryanodine receptor 2 isoform X5

UniProtKB/TrEMBL

A0A590UJF6

Related

ENSP00000499393.2, ENST00000661330.2

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_047427329.1 → XP_047283285.1 ryanodine receptor 2 isoform X10

UniProtKB/TrEMBL

A0A590UJF6
XM_047427337.1 → XP_047283293.1 ryanodine receptor 2 isoform X13

UniProtKB/TrEMBL

A0A590UJZ8
XM_047427341.1 → XP_047283297.1 ryanodine receptor 2 isoform X14

UniProtKB/TrEMBL

A0A590UJZ8
XM_006711803.4 → XP_006711866.1 ryanodine receptor 2 isoform X2

UniProtKB/TrEMBL

A0A590UJF6

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_047427317.1 → XP_047283273.1 ryanodine receptor 2 isoform X6

UniProtKB/TrEMBL

A0A590UJF6
XM_006711810.4 → XP_006711873.1 ryanodine receptor 2 isoform X15

UniProtKB/TrEMBL

A0A590UJZ8

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_017002028.2 → XP_016857517.1 ryanodine receptor 2 isoform X3

UniProtKB/TrEMBL

A0AAQ5BHC6

RNA

XR_007062490.1 RNA Sequence
XR_002957299.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

236453199..237245297

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054338092.1 → XP_054194067.1 ryanodine receptor 2 isoform X1

UniProtKB/TrEMBL

A0A590UJF6
XM_054338095.1 → XP_054194070.1 ryanodine receptor 2 isoform X4

UniProtKB/TrEMBL

A0AAQ5BHB1
XM_054338098.1 → XP_054194073.1 ryanodine receptor 2 isoform X7

UniProtKB/TrEMBL

A0A590UJZ8
XM_054338099.1 → XP_054194074.1 ryanodine receptor 2 isoform X8

UniProtKB/TrEMBL

A0A590UJZ8
XM_054338100.1 → XP_054194075.1 ryanodine receptor 2 isoform X9

UniProtKB/TrEMBL

A0A590UJF6
XM_054338102.1 → XP_054194077.1 ryanodine receptor 2 isoform X11

UniProtKB/TrEMBL

A0A590UJZ8
XM_054338103.1 → XP_054194078.1 ryanodine receptor 2 isoform X12

UniProtKB/TrEMBL

A0A590UJZ8
XM_054338096.1 → XP_054194071.1 ryanodine receptor 2 isoform X5

UniProtKB/TrEMBL

A0A590UJF6
XM_054338101.1 → XP_054194076.1 ryanodine receptor 2 isoform X10

UniProtKB/TrEMBL

A0A590UJF6
XM_054338104.1 → XP_054194079.1 ryanodine receptor 2 isoform X13

UniProtKB/TrEMBL

A0A590UJZ8
XM_054338105.1 → XP_054194080.1 ryanodine receptor 2 isoform X14

UniProtKB/TrEMBL

A0A590UJZ8
XM_054338093.1 → XP_054194068.1 ryanodine receptor 2 isoform X2

UniProtKB/TrEMBL

A0A590UJF6
XM_054338097.1 → XP_054194072.1 ryanodine receptor 2 isoform X6

UniProtKB/TrEMBL

A0A590UJF6
XM_054338106.1 → XP_054194081.1 ryanodine receptor 2 isoform X15

UniProtKB/TrEMBL

A0A590UJZ8
XM_054338094.1 → XP_054194069.1 ryanodine receptor 2 isoform X3

UniProtKB/TrEMBL

A0AAQ5BHC6