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TRDN (triadin)
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 nameGene Name - the full gene name approved by the HGNC.
Triadin
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TRDN
SynonymsGene synonyms aliases
CARDAR, CPVT5, TDN, TRISK
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q22.31
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Calcium signaling pathway
Cardiac muscle contraction 		  Stimuli-sensing channels
Ion homeostasis
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
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, rs397507556, rs397516508, rs397516539, rs397516643, rs768049331, rs397515458, rs397515459, rs730880187, rs730880201, rs1553191909, rs139228801, rs786205791, rs786205799, rs794728706, rs794728708, rs190140598, rs794728721, rs794728740, rs794728746, rs794728753, rs794728754, rs794728756, rs794728704, rs794728777, rs794728779, rs794728782, rs794728783, rs794728785, rs771994461, rs794728786, rs794728787, rs794728803, rs794728804, rs794728810, rs794728811, rs794728832, rs763955301, rs1085307100, rs876657635, rs886037908, rs886037907, rs1057517699, rs773204795, rs1060502164, rs1060500142, rs1060500156, rs1060500150, rs1060500137, rs1060502114, rs1060502116, rs1064796516, rs1085307997, rs776874142, rs1436844070, rs1553322494, rs1553197939, rs1553343100, rs752256846, rs865784613, rs1553454821, rs1553426678, rs1415931588, rs1553263875, rs794728802, rs1553339086, rs1554258777, rs756636650, rs905985075, rs1401116572, rs1553339084, rs1553531703, rs1554251609, rs1558405887, rs1558698334, rs1558393802, rs1558405816, rs397516510, rs1558481148, rs1558424746, rs1558103974, rs1558381851, rs1558405653, rs1468290898, rs1573911397, rs1471576368, rs375598471, rs1342435908, rs1573300872, rs1209752961, rs1573887621, rs1226397753, rs1573911593, rs1573935244, rs765238394, rs1185619003, rs1573997412, rs775663612, rs958406908, rs754834466, rs749547712, rs1682400034, rs1658967336, rs545032318, rs1695315646, rs1663792524 26200674, 22422768, 25922419
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261 28672053
Dysautonomia Dysautonomia rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Neuropathy Neuropathy, NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 rs121913593, rs121913595, rs751050956, rs878853221, rs768554986, rs1553259568, rs1567973091, rs1560046845, rs1567969825, rs1567973088, rs756896276 28672053
Unknown
Disease name Disease term dbSNP ID References
Diabetic foot Diabetic Foot 28672053
Heart failure Heart Failure, Diastolic rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741 29556499
Hereditary and idiopathic neuropathy Hereditary and idiopathic neuropathy, unspecified 28672053
Romano-ward syndrome Romano-Ward Syndrome 27041150

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