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TRDN triadin [ Homo sapiens (human) ]

Gene ID: 10345, updated on 3-Apr-2024

Summary

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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

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See TRDN in Genome Data Viewer
Location:
6q22.31
Exon count:
42
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (123216339..123636950, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (124404293..124824746, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (123537484..123958095, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901392 Neighboring gene clavesin 2 Neighboring gene NANOG hESC enhancer GRCh37_chr6:123597774-123598309 Neighboring gene uncharacterized LOC124901393 Neighboring gene uncharacterized LOC105377984 Neighboring gene MPRA-validated peak6085 silencer Neighboring gene uncharacterized LOC105377982 Neighboring gene MPRA-validated peak6087 silencer Neighboring gene TRDN antisense RNA 1 Neighboring gene uncharacterized LOC105377981 Neighboring gene MPRA-validated peak6091 silencer Neighboring gene MPRA-validated peak6092 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25025 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:124237778-124238627 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:124287082-124287615 Neighboring gene sodium/potassium transporting ATPase interacting 2 Neighboring gene NANOG hESC enhancer GRCh37_chr6:124350663-124351164 Neighboring gene NANOG hESC enhancer GRCh37_chr6:124410214-124410715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:124669617-124670116 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:125004573-125005172 Neighboring gene MPRA-validated peak6095 silencer Neighboring gene MPRA-validated peak6096 silencer Neighboring gene MPRA-validated peak6097 silencer Neighboring gene MPRA-validated peak6098 silencer Neighboring gene MPRA-validated peak6100 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:125276459-125277048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:125277049-125277637 Neighboring gene RNF217 antisense RNA 1 (head to head) Neighboring gene ring finger protein 217

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytes. Clemens DJ, et al. Stem Cell Reports, 2023 May 9. PMID 37163978, Free PMC Article
  2. A very rare cause of sudden cardiac arrest in children: triadin knockout syndrome. Sulu A, et al. Cardiol Young, 2022 Apr 28. PMID 35481495
  3. 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. Rabbani B, et al. Am J Med Genet A, 2021 Nov. PMID 34415104
  4. Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation. Sarquella-Brugada G, et al. Front Pediatr, 2020. PMID 33692971, Free PMC Article
  5. A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia. Rossi D, et al. Heart Rhythm, 2020 Feb. PMID 31437535

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC88285, DKFZp779I2253

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 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 IBA
Inferred from Biological aspect of Ancestor
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 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

  1. NG_030438.1 RefSeqGene

    Range
    5144..425755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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/Swiss-Prot
    Q13061
    Related
    ENSP00000437684.1, ENST00000542443.5
    Conserved Domains (1) summary
    pfam05279
    Location:50 → 73
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

  5. NM_001407315.1 → NP_001394244.1  triadin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL133257, AL357352, AL445259

  6. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    123216339..123636950 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    124404293..124824746 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13061.4 GenPept UniProtKB/Swiss-Prot:Q13061

Gene LinkOut

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