TRDN triadin [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRDNprovided by HGNC
Official Full Name: triadinprovided by HGNC
Primary source: HGNC:HGNC:12261
See related: Ensembl:ENSG00000186439 MIM:603283; AllianceGenome:HGNC:12261
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: TDN; CPVT5; TRISK; CARDAR
Summary: This gene encodes an integral membrane protein found in skeletal and cardiac muscle. The encoded protein plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex and is required for normal skeletal muscle strength. This protein indirectly links triads and microtubules in skeletal muscle. Mutations in this gene are associated with cardiac arrythmia syndrome and some variants in this gene may be associated with sudden cardiac death. [provided by RefSeq, May 2022]
Expression: Biased expression in heart (RPKM 24.6), prostate (RPKM 6.0) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q22.31

Exon count:: 42

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (123216339..123636950, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (124404293..124824746, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (123537484..123958095, complement)

Chromosome 6 - NC_000006.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytes.
Title: Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytes.
Cardiomyocyte-Specific Long Noncoding RNA Regulates Alternative Splicing of the Triadin Gene in the Heart.
Title: Cardiomyocyte-Specific Long Noncoding RNA Regulates Alternative Splicing of the Triadin Gene in the Heart.
Association of decreased triadin expression level with apoptosis of dopaminergic cells in Parkinson's disease mouse model.
Title: Association of decreased triadin expression level with apoptosis of dopaminergic cells in Parkinson's disease mouse model.
Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia during exercise: The TRDN arrhythmia syndrome.
Title: Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia during exercise: The TRDN arrhythmia syndrome.
A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia.
Title: A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia.
The lncRNA TRDN-AS regulates the balance between cardiac and skeletal isoforms of triadin.
Title: A heart-enriched antisense long non-coding RNA regulates the balance between cardiac and skeletal muscle triadin.
CLIMP-63 (also known as CKAP4), is the partner of triadin, is responsible for this association of triads and microtubules.
Title: Triadin and CLIMP-63 form a link between triads and microtubules in muscle cells.
A compound heterozygous mutation in the triadin gene resulted in a particularly arrhythmogenic phenotype with with cardiac arrest in two siblings.
Title: Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings.
We describe a new family with cathecholaminergic polymorphic ventricular tachycardia (CPVT) linked to the Triadin gene.
Title: New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.
Common variants in TRDN and CALM1 are associated with increased risk of sudden cardiac death in patients with chronic heart failure.
Title: Common Variants in TRDN and CALM1 Are Associated with Risk of Sudden Cardiac Death in Chronic Heart Failure Patients in Chinese Han Population.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

Associated conditions

Description	Tests
Catecholaminergic polymorphic ventricular tachycardia 1 MedGen: C1631597 OMIM: 604772 GeneReviews: Catecholaminergic Polymorphic Ventricular Tachycardia	Compare labs
Catecholaminergic polymorphic ventricular tachycardia 5 MedGen: C3809536 OMIM: 615441 GeneReviews: Catecholaminergic Polymorphic Ventricular Tachycardia	Compare labs
Long QT syndrome MedGen: C0023976 GeneReviews: Long QT Syndrome Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-35487 (e-PCR)
- UniSTS:59927

D6S1128E (e-PCR)
- UniSTS:151087

RH35867 (e-PCR)
- UniSTS:70471

SHGC-58014 (e-PCR)
- UniSTS:78676

G62635 (e-PCR)
- UniSTS:139615

SHGC-54225 (e-PCR)
- UniSTS:78452

RH102304 (e-PCR)
- UniSTS:96638

D6S1107E (e-PCR)
- UniSTS:50046

G59260 (e-PCR)
- UniSTS:136575

WI-11154 (e-PCR)
- UniSTS:25490

SHGC-106448 (e-PCR)
- UniSTS:169886

SHGC-89119 (e-PCR)
- UniSTS:184484

SHGC-105753 (e-PCR)
- UniSTS:169401

G59249 (e-PCR)
- UniSTS:136422

G63149 (e-PCR)
- UniSTS:140266

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-macromolecule adaptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cytoplasmic microtubule organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in endoplasmic reticulum membrane organization	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 heart contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of ryanodine-sensitive calcium-release channel activity	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cell communication by electrical coupling involved in cardiac conduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ryanodine-sensitive calcium-release channel activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ryanodine-sensitive calcium-release channel activity	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cardiac muscle cell membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cardiac muscle cell membrane potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell communication by electrical coupling	TAS Traceable Author Statement more info	PubMed
involved_in regulation of release of sequestered calcium ion into cytosol	TAS Traceable Author Statement more info	PubMed
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	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	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
part_of junctional membrane complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in junctional sarcoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in junctional sarcoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in junctional sarcoplasmic reticulum membrane	TAS Traceable Author Statement more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in sarcoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcoplasmic reticulum lumen	TAS Traceable Author Statement more info	PubMed
located_in sarcoplasmic reticulum membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: triadin

Names: triadin in skeletal muscle

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_030438.1 RefSeqGene

Range

5144..425755

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001251987.2 → NP_001238916.1 triadin isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR, uses an alternate splice site in the 5' coding region, and lacks a large portion of the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AJ489257, AK307619, AL357352, BE646014

Consensus CDS

CCDS93997.1

UniProtKB/TrEMBL

A0A590UJV0, Q8IVK2

Related

ENSP00000499585.1, ENST00000662930.1
NM_001256020.2 → NP_001242949.1 triadin isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks several 3' exons but contains an alternate 3' end, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct and significantly shorter C-terminus, compared to isoform 1.

Source sequence(s)

AA401295, AL445259, BC139910

Consensus CDS

CCDS59034.1

UniProtKB/TrEMBL

A8K752

Related

ENSP00000486095.1, ENST00000628709.2

Conserved Domains (1) summary

pfam05279
Location:50 → 73

Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
NM_001256021.2 → NP_001242950.1 triadin isoform 4

See identical proteins and their annotated locations for NP_001242950.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks several 3' exons but contains an alternate 3' end, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4, also known as Trisk 32) has a distinct and significantly shorter C-terminus, compared to isoform 1.

Source sequence(s)

AA401295, AI371054, AL445259, JN900469

Consensus CDS

CCDS75511.1

UniProtKB/TrEMBL

H9ME53

Related

ENSP00000439281.2, ENST00000546248.6

Conserved Domains (1) summary

pfam05279
Location:50 → 73

Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
NM_001256022.2 → NP_001242951.1 triadin isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks several 3' exons but contains an alternate 3' exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (5) has a distinct and significantly shorter C-terminus, compared to isoform 1.

Source sequence(s)

AL445259, BC070290

Consensus CDS

CCDS59035.1

UniProtKB/TrEMBL

A0AAQ5BH94

Related

ENSP00000437684.1, ENST00000542443.5

Conserved Domains (1) summary

pfam05279
Location:50 → 73

Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
NM_001407315.1 → NP_001394244.1 triadin isoform 6

Status: REVIEWED

Source sequence(s)

AL133257, AL357352, AL445259

UniProtKB/TrEMBL

Q8IVK2
NM_006073.4 → NP_006064.2 triadin isoform 1

See identical proteins and their annotated locations for NP_006064.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AA401295, AI375093, AK307619, AL357352, AL603902, BC012590, BM678702, U18985

Consensus CDS

CCDS55053.1

UniProtKB/Swiss-Prot

A5D6W5, F5H2W7, Q13061, Q6NSB8

Related

ENSP00000333984.5, ENST00000334268.9

Conserved Domains (1) summary

PTZ00121
Location:428 → 672

PTZ00121; MAEBL; Provisional