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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10345
Gene name Gene Name - the full gene name approved by the HGNC.	Triadin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TRDN
Synonyms (NCBI Gene) Gene synonyms aliases	CARDAR, CPVT5, TDN, TRISK
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CARDAR
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q22.31
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes an integral membrane protein that contains a single transmembrane domain. As similar protein in rabbits plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex in association with the ryanod

Show/Hide all(17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200243235	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs202219343	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs377115913	C>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs397515458	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs578024729	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs747836980	A>C	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs750469686	TCTT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs778198100	->CT	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs781420323	TT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1060502114	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1085307100	->T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1298986609	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1381728472	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1468290898	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554251609	->C	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1562358749	GGCATGAAATGGGAGCCAGTAGGCTGGGAGCAAGGTGAGAGGAAGGTTTTCACAAAGTATCTTTATGTGTTGAGCAATTAGAACTTATTATCTATTCTACATAAATAAATAACAATTAGAAATTAAAGCAATCTAATAGATAATCAAAATATGCAAGTTATAATAATGAGATCTACTTTCTTACCTATCAAACTGACAAGTATTTCTGATATAATATCCTCACTGCTGGCTAAGGCAGTCTCAAAACTGCCAGAG	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1582923790	CT>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

Show/Hide all(63)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017167	hsa-miR-335-5p	Microarray	18185580
MIRT019248	hsa-miR-148b-3p	Microarray	17612493
MIRT721427	hsa-miR-501-3p	HITS-CLIP	19536157
MIRT721426	hsa-miR-502-3p	HITS-CLIP	19536157
MIRT721425	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT721424	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT721423	hsa-miR-7703	HITS-CLIP	19536157
MIRT721422	hsa-miR-491-3p	HITS-CLIP	19536157
MIRT713104	hsa-miR-3606-3p	HITS-CLIP	19536157
MIRT713103	hsa-miR-513a-3p	HITS-CLIP	19536157
MIRT713102	hsa-miR-513c-3p	HITS-CLIP	19536157
MIRT713101	hsa-miR-3974	HITS-CLIP	19536157
MIRT713100	hsa-miR-4761-5p	HITS-CLIP	19536157
MIRT713099	hsa-miR-561-5p	HITS-CLIP	19536157
MIRT713098	hsa-miR-498	HITS-CLIP	19536157
MIRT713097	hsa-miR-1305	HITS-CLIP	19536157
MIRT713096	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT721427	hsa-miR-501-3p	HITS-CLIP	19536157
MIRT721426	hsa-miR-502-3p	HITS-CLIP	19536157
MIRT721425	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT721424	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT721423	hsa-miR-7703	HITS-CLIP	19536157
MIRT721422	hsa-miR-491-3p	HITS-CLIP	19536157
MIRT713104	hsa-miR-3606-3p	HITS-CLIP	19536157
MIRT713103	hsa-miR-513a-3p	HITS-CLIP	19536157
MIRT713102	hsa-miR-513c-3p	HITS-CLIP	19536157
MIRT713101	hsa-miR-3974	HITS-CLIP	19536157
MIRT713100	hsa-miR-4761-5p	HITS-CLIP	19536157
MIRT713099	hsa-miR-561-5p	HITS-CLIP	19536157
MIRT713098	hsa-miR-498	HITS-CLIP	19536157
MIRT713097	hsa-miR-1305	HITS-CLIP	19536157
MIRT713096	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT1452394	hsa-miR-331-5p	CLIP-seq
MIRT1452395	hsa-miR-3682-5p	CLIP-seq
MIRT1452396	hsa-miR-4272	CLIP-seq
MIRT1452397	hsa-miR-4678	CLIP-seq
MIRT1452398	hsa-miR-548l	CLIP-seq
MIRT1452399	hsa-miR-548n	CLIP-seq
MIRT2135445	hsa-miR-4422	CLIP-seq
MIRT2356583	hsa-miR-125a-3p	CLIP-seq
MIRT1452394	hsa-miR-331-5p	CLIP-seq
MIRT2356584	hsa-miR-338-5p	CLIP-seq
MIRT1452396	hsa-miR-4272	CLIP-seq
MIRT2356585	hsa-miR-4282	CLIP-seq
MIRT1452397	hsa-miR-4678	CLIP-seq
MIRT2356586	hsa-miR-4726-3p	CLIP-seq
MIRT2356587	hsa-miR-5096	CLIP-seq
MIRT2650140	hsa-miR-132	CLIP-seq
MIRT2650141	hsa-miR-212	CLIP-seq
MIRT1452396	hsa-miR-4272	CLIP-seq
MIRT1452397	hsa-miR-4678	CLIP-seq
MIRT2650142	hsa-miR-616	CLIP-seq
MIRT2694106	hsa-miR-1256	CLIP-seq
MIRT2694107	hsa-miR-1279	CLIP-seq
MIRT2650140	hsa-miR-132	CLIP-seq
MIRT2650141	hsa-miR-212	CLIP-seq
MIRT1452395	hsa-miR-3682-5p	CLIP-seq
MIRT1452396	hsa-miR-4272	CLIP-seq
MIRT1452397	hsa-miR-4678	CLIP-seq
MIRT2694108	hsa-miR-4776-3p	CLIP-seq
MIRT1452398	hsa-miR-548l	CLIP-seq
MIRT1452399	hsa-miR-548n	CLIP-seq
MIRT2650142	hsa-miR-616	CLIP-seq

Show/Hide all(38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	17526652
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA
GO:0006874	Process	Cellular calcium ion homeostasis	ISS
GO:0006936	Process	Muscle contraction	TAS	7588753
GO:0009617	Process	Response to bacterium	IEA
GO:0010649	Process	Regulation of cell communication by electrical coupling	TAS	19567751
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IBA	21873635
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	IBA	21873635
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	ISS
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	TAS	17569730
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS
GO:0016021	Component	Integral component of membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	ISS
GO:0030314	Component	Junctional membrane complex	ISS
GO:0030674	Function	Protein-macromolecule adaptor activity	ISS
GO:0031122	Process	Cytoplasmic microtubule organization	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS	11504710
GO:0033018	Component	Sarcoplasmic reticulum lumen	TAS	17569730
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0044325	Function	Ion channel binding	IBA	21873635
GO:0044325	Function	Ion channel binding	ISS
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	TAS	19567751
GO:0060047	Process	Heart contraction	IBA	21873635
GO:0060047	Process	Heart contraction	IMP	22422768
GO:0060315	Process	Negative regulation of ryanodine-sensitive calcium-release channel activity	TAS	17569730
GO:0060316	Process	Positive regulation of ryanodine-sensitive calcium-release channel activity	IBA	21873635
GO:0060316	Process	Positive regulation of ryanodine-sensitive calcium-release channel activity	ISS
GO:0060316	Process	Positive regulation of ryanodine-sensitive calcium-release channel activity	TAS	19567751
GO:0086036	Process	Regulation of cardiac muscle cell membrane potential	IBA	21873635
GO:0086036	Process	Regulation of cardiac muscle cell membrane potential	ISS
GO:0090158	Process	Endoplasmic reticulum membrane organization	ISS
GO:1901846	Process	Positive regulation of cell communication by electrical coupling involved in cardiac conduction	ISS
GO:1903779	Process	Regulation of cardiac conduction	TAS

MIM	HGNC	e!Ensembl
603283	12261	ENSG00000186439

Protein

UniProt ID

Q13061

Protein name

Triadin

Protein function

Contributes to the regulation of lumenal Ca2+ release via the sarcoplasmic reticulum calcium release channels RYR1 and RYR2, a key step in triggering skeletal and heart muscle contraction. Required for normal organization of the triad junction,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05279	Asp-B-Hydro_N	42 → 269	Aspartyl beta-hydroxylase N-terminal region	Family

Sequence

MTEITAEGNASTTTTVIDSKNGSVPKSPGKVLKRTVTEDIVTTFSSPAAWLLVIALIITW
SAVAIVMFDLVDYKNFSASSIAKIGSDPLKLVRDAMEETTDWIYGFFSLLSDIISSEDEE
DDDGDEDTDKGEIDEPPLRKKEIHKDKTEKQEKPERKIQTKVTHKEKEKGKEKVREKEKP
EKKATHKEKIEKKEKPETKTLAKEQKKAKTAEKSEEKTKKEVKGGKQEKVKQTAAKVKEV
QKTPSKPKEKEDKEKAAVSKHEQKDQYAFCRYMIDIFVHGDLKPGQSPAIPPPLPTEQAS
RPTPASPALEEKEGEKKKAEKKVTSETKKKEKEDIKKKSEKETAIDVEKKEPGKASETKQ
GTVKIAAQAAAKKDEKKEDSKKTKKPAEVEQPKGKKQEKKEKHVEPAKSPKKEHSVPSDK
QVKAKTERAKEEIGAVSIKKAVPGKKEEKTTKTVEQEIRKEKSGKTSSILKDKEPIKGKE
EKVPASLKEKEPETKKDEKMSKAGKEVKPKPPQLQGKKEEKPEPQIKKEAKPAISEKVQI
HKQDIVKPEKTVSHGKPEEKVLKQVKAVTIEKTAKPKPTKKAEHREREPPSIKTDKPKPT
PKGTSEVTESGKKKTEISEKESKEKADMKHLREEKVSTRKESLQLHNVTKAEKPARVSKD
VEDVPASKKAKEGTEDVSPTKQKSPISFFQCVYLDGYNGYGFQFPFTPADRPGESSGQAN
SPGQKQQGQ

Sequence length

729

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway Cardiac muscle contraction		Stimuli-sensing channels Ion homeostasis

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Catecholaminergic polymorphic ventricular tachycardia	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder), Catecholaminergic polymorphic ventricular tachycardia	rs121918597, rs121918598, rs121918599, rs121918600, rs121918601, rs121918602, rs121918603, rs121918604, rs121918605, rs121434549, rs786205106, rs121434550, rs267607276, rs267607277, rs397507555 View all (105 more)	26200674, 22422768, 25922419
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	28672053
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086 View all (27 more)
Neuropathy	Neuropathy, NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, NEUROPATHY, CONGENITAL HYPOMYELINATING, 3	rs121913593, rs121913595, rs751050956, rs878853221, rs768554986, rs1553259568, rs1567973091, rs1560046845, rs1567969825, rs1567973088, rs756896276	28672053
Ventricular tachycardia	Tachycardia, Ventricular, Ventricular tachycardia, polymorphic	rs137853228, rs397517025, rs199473373, rs727504432, rs1450434935, rs1592847299

Show/Hide Unknown Diseases (9)

Disease term	Disease name	Evidence	References	Source
Unknown
Heart failure	Heart Failure, Diastolic		29556499	ClinVar
Torsades de pointes	Torsades de Pointes			ClinVar
Catecholaminergic Polymorphic Ventricular Tachycardia	catecholaminergic polymorphic ventricular tachycardia 5, catecholaminergic polymorphic ventricular tachycardia			GenCC
Long QT Syndrome	familial long QT syndrome, long QT syndrome			GenCC
Endometriosis	Endometriosis			GWAS
Borderline personality disorder	Borderline personality disorder			GWAS
Hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy			GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining
Arrhythmias Cardiac	Associate	37163978
Bradycardia	Associate	40760564
Channelopathies	Associate	33895855, 35543671
Death Sudden	Associate	33895855
Death Sudden Cardiac	Associate	26196381
Diabetes Mellitus Type 1	Stimulate	36175575
Heart Failure	Associate	26196381
Hyperlipidemias	Associate	36175575
Hypothyroidism	Associate	36175575
Ketosis	Associate	36175575
Long QT Syndrome	Associate	37163978
Muscle Weakness	Associate	28202702
Myotonia Congenita	Associate	28202702
Nervous System Diseases	Associate	36175575
Polycystic Ovary Syndrome	Associate	36175575
Polymorphic catecholergic ventricular tachycardia	Associate	34557911, 40760564
Sick Sinus Syndrome	Associate	40760564
Syncope	Associate	40760564

TRDN (triadin)