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 ryanodine receptor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and sing... See more...

Aliases for TRDN Gene

Aliases for TRDN Gene

  • Triadin 2 3 4 5
  • Triadin In Skeletal Muscle 2 3
  • TRISK 2 3
  • CPVT5 3
  • TRDN 5
  • TDN 3

External Ids for TRDN Gene

Previous GeneCards Identifiers for TRDN Gene

  • GC06M123386
  • GC06M123519
  • GC06M123580
  • GC06M121115

Summaries for TRDN Gene

Entrez Gene Summary for TRDN 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 ryanodine receptor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and single nucleotide polymorphisms in this gene may be markers for IgA nephritis. [provided by RefSeq, Oct 2011]

GeneCards Summary for TRDN Gene

TRDN (Triadin) is a Protein Coding gene. Diseases associated with TRDN include Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, With Or Without Muscle Weakness and Catecholaminergic Polymorphic Ventricular Tachycardia. Among its related pathways are Cardiac muscle contraction and Calcium signaling pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ion channel binding.

UniProtKB/Swiss-Prot Summary for TRDN Gene

  • 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, where T-tubules and the sarcoplasmic reticulum terminal cisternae are in close contact (By similarity). Required for normal skeletal muscle strength. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats.

Gene Wiki entry for TRDN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRDN Gene

Genomics for TRDN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TRDN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J123635 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 600.7 +2.1 2092 4.8 NFIC NFIB TBX21 CTCF TRDN piR-30853-063 LOC105377981 ENSG00000285941 CLVS2
GH06J123638 Enhancer 0.3 Ensembl dbSUPER 600.7 -1.4 -1408 0.2 TRDN lnc-NKAIN2-6 LOC105377981 ENSG00000285941 NKAIN2
GH06J123587 Promoter/Enhancer 0.8 Ensembl ENCODE 11.2 +47.9 47928 2.5 ZIC2 ZBTB5 ZNF610 CEBPB NANOG CC2D1A ENSG00000285941 TRDN piR-37656-243 CLVS2
GH06J123603 Enhancer 0.4 Ensembl dbSUPER 11.3 +32.8 32792 0.6 TRIM28 TRDN LOC105377981 RF00994-952 ENSG00000285941 CLVS2
GH06J123668 Enhancer 0.4 Ensembl 11.1 -32.0 -32008 1 RFX1 DDX20 STAT5A STAT1 TRDN piR-32325-177 lnc-NKAIN2-6 LOC105377981 ENSG00000285941 NKAIN2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRDN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRDN

Top Transcription factor binding sites by QIAGEN in the TRDN gene promoter:
  • C/EBPbeta
  • HSF2
  • Nkx6-1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for TRDN Gene

Genomic Locations for TRDN Gene
chr6:123,216,339-123,637,093
(GRCh38/hg38)
Size:
420,755 bases
Orientation:
Minus strand
chr6:123,537,483-123,958,238
(GRCh37/hg19)
Size:
420,756 bases
Orientation:
Minus strand

Genomic View for TRDN Gene

Genes around TRDN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRDN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRDN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRDN Gene

Proteins for TRDN Gene

  • Protein details for TRDN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13061-TRDN_HUMAN
    Recommended name:
    Triadin
    Protein Accession:
    Q13061
    Secondary Accessions:
    • A5D6W5
    • F5H2W7
    • Q6NSB8

    Protein attributes for TRDN Gene

    Size:
    729 amino acids
    Molecular mass:
    81595 Da
    Quaternary structure:
    • Homooligomer of variable subunit number; disulfide-linked (By similarity). Interacts with CASQ1 and RYR1 in skeletal muscle. Interacts with CASQ2.

    Alternative splice isoforms for TRDN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRDN Gene

Post-translational modifications for TRDN Gene

No data available for DME Specific Peptides for TRDN Gene

Domains & Families for TRDN Gene

Gene Families for TRDN Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for TRDN Gene

InterPro:
Blocks:
  • Triadin
ProtoNet:

Suggested Antigen Peptide Sequences for TRDN Gene

GenScript: Design optimal peptide antigens:
  • TRDN protein (A5D6W5_HUMAN)
  • TRDN protein (Q05C44_HUMAN)
  • Triadin (Q5JS60_HUMAN)
  • Triadin (Q5JS61_HUMAN)
  • Triadin (Q5JS62_HUMAN)
genes like me logo Genes that share domains with TRDN: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TRDN Gene

Function for TRDN Gene

Molecular function for TRDN Gene

UniProtKB/Swiss-Prot 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, where T-tubules and the sarcoplasmic reticulum terminal cisternae are in close contact (By similarity). Required for normal skeletal muscle strength. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats.
GENATLAS Biochemistry:
triadin,94/95 kDa,junctional terminal cisternae protein from skeletal muscle,putatively involved in excitation/contraction coupling

Phenotypes From GWAS Catalog for TRDN Gene

Gene Ontology (GO) - Molecular Function for TRDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
GO:0005515 protein binding IPI 17526652
GO:0030674 protein binding, bridging ISS --
GO:0044325 ion channel binding ISS --
genes like me logo Genes that share ontologies with TRDN: view
genes like me logo Genes that share phenotypes with TRDN: view

Human Phenotype Ontology for TRDN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRDN Gene

MGI Knock Outs for TRDN:
  • Trdn Trdn<tm1.2Isma>
  • Trdn Trdn<tm1.1Cfp>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRDN

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TRDN Gene

Localization for TRDN Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRDN Gene

Cell membrane. Sarcoplasmic reticulum membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRDN gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytosol 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005783 endoplasmic reticulum ISS --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IBA,IDA --
GO:0014701 junctional sarcoplasmic reticulum membrane IBA,TAS 17569730
genes like me logo Genes that share ontologies with TRDN: view

Pathways & Interactions for TRDN Gene

genes like me logo Genes that share pathways with TRDN: view

Pathways by source for TRDN Gene

Gene Ontology (GO) - Biological Process for TRDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006874 cellular calcium ion homeostasis ISS --
GO:0006936 muscle contraction TAS 7588753
GO:0009617 response to bacterium IEA --
GO:0010649 regulation of cell communication by electrical coupling TAS 19567751
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IBA,ISS --
genes like me logo Genes that share ontologies with TRDN: view

No data available for SIGNOR curated interactions for TRDN Gene

Drugs & Compounds for TRDN Gene

(4) Drugs for TRDN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for TRDN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TRDN: view

Transcripts for TRDN Gene

mRNA/cDNA for TRDN Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRDN

Alternative Splicing Database (ASD) splice patterns (SP) for TRDN Gene

No ASD Table

Relevant External Links for TRDN Gene

GeneLoc Exon Structure for
TRDN

Expression for TRDN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRDN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRDN Gene

This gene is overexpressed in Muscle - Skeletal (x40.4), Heart - Left Ventricle (x5.2), and Heart - Atrial Appendage (x5.0).

Protein differential expression in normal tissues from HIPED for TRDN Gene

This gene is overexpressed in Bone (27.4), Heart (19.7), and Pancreas (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TRDN Gene



Protein tissue co-expression partners for TRDN Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRDN

SOURCE GeneReport for Unigene cluster for TRDN Gene:

Hs.144744

Evidence on tissue expression from TISSUES for TRDN Gene

  • Muscle(5)
  • Heart(3.5)
  • Nervous system(2.1)
  • Stomach(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TRDN Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns with TRDN: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TRDN Gene

Orthologs for TRDN Gene

This gene was present in the common ancestor of chordates.

Orthologs for TRDN Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia TRDN 30 31
  • 90.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TRDN 30 31
  • 89.73 (n)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia TRDN 31
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Trdn 30
  • 81.17 (n)
Mouse
(Mus musculus)
Mammalia Trdn 30 17 31
  • 80.9 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TRDN 31
  • 69 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TRDN 31
  • 48 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TRDN 31
  • 54 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TRDN 31
  • 70 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii trdn 31
  • 18 (a)
OneToOne
Species where no ortholog for TRDN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TRDN Gene

ENSEMBL:
Gene Tree for TRDN (if available)
TreeFam:
Gene Tree for TRDN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRDN: view image

Paralogs for TRDN Gene

(1) SIMAP similar genes for TRDN Gene using alignment to 9 proteins:

  • TRDN_HUMAN
  • H0Y313_HUMAN
  • H0Y6P0_HUMAN
  • H7BY47_HUMAN
  • H9ME53_HUMAN
  • Q05C44_HUMAN
  • Q5SWK9_HUMAN
  • Q6PG49_HUMAN
  • Q8IVK2_HUMAN
genes like me logo Genes that share paralogs with TRDN: view

No data available for Paralogs for TRDN Gene

Variants for TRDN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRDN Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
639752 Uncertain Significance: Catecholaminergic polymorphic ventricular tachycardia 123,571,010(-) C/G MISSENSE_VARIANT
641770 Uncertain Significance: Catecholaminergic polymorphic ventricular tachycardia 123,331,923(-) A/G MISSENSE_VARIANT
644367 Uncertain Significance: Catecholaminergic polymorphic ventricular tachycardia 123,547,366(-) A/G MISSENSE_VARIANT
644783 Uncertain Significance: Catecholaminergic polymorphic ventricular tachycardia 123,548,534(-) T/C MISSENSE_VARIANT
647284 Likely Pathogenic: Catecholaminergic polymorphic ventricular tachycardia 123,381,391(-) C/T SPLICE_ACCEPTOR_VARIANT

Additional dbSNP identifiers (rs#s) for TRDN Gene

Structural Variations from Database of Genomic Variants (DGV) for TRDN Gene

Variant ID Type Subtype PubMed ID
dgv10920n54 CNV gain 21841781
dgv1215e214 CNV loss 21293372
dgv3380n106 CNV deletion 24896259
esv1000992 CNV insertion 20482838
esv1007052 CNV insertion 20482838
esv1205067 CNV insertion 17803354
esv1326854 CNV deletion 17803354
esv1699630 CNV deletion 17803354
esv2576909 CNV insertion 19546169
esv2663350 CNV deletion 23128226
esv2676890 CNV deletion 23128226
esv2732659 CNV deletion 23290073
esv2732660 CNV deletion 23290073
esv29144 CNV loss 19812545
esv3306495 CNV mobile element insertion 20981092
esv3309830 CNV mobile element insertion 20981092
esv3331949 CNV insertion 20981092
esv3350644 CNV insertion 20981092
esv3373484 CNV insertion 20981092
esv3407219 CNV insertion 20981092
esv3410458 CNV insertion 20981092
esv3410534 CNV insertion 20981092
esv3540412 CNV deletion 23714750
esv3571382 CNV loss 25503493
esv3610629 CNV gain 21293372
esv3610633 CNV gain 21293372
esv3610635 CNV loss 21293372
esv3890939 CNV loss 25118596
nsv1018599 CNV gain 25217958
nsv1074011 CNV deletion 25765185
nsv1112438 CNV deletion 24896259
nsv1137556 CNV deletion 24896259
nsv1146504 CNV duplication 26484159
nsv1153638 CNV deletion 26484159
nsv349422 CNV deletion 16902084
nsv349674 CNV insertion 16902084
nsv470856 CNV gain 18288195
nsv473416 CNV novel sequence insertion 20440878
nsv509152 CNV insertion 20534489
nsv520198 CNV loss 19592680
nsv520332 CNV loss 19592680
nsv524559 CNV gain 19592680
nsv526420 CNV gain 19592680
nsv5461 CNV insertion 18451855
nsv604577 CNV loss 21841781
nsv604578 CNV loss 21841781
nsv604579 CNV loss 21841781
nsv820113 CNV loss 19587683
nsv830792 CNV gain 17160897

Variation tolerance for TRDN Gene

Gene Damage Index Score: 13.28; 95.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRDN Gene

Human Gene Mutation Database (HGMD)
TRDN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRDN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRDN Gene

Disorders for TRDN Gene

MalaCards: The human disease database

(24) MalaCards diseases for TRDN Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

TRDN_HUMAN
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (CPVT5) [MIM:615441]: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, or sudden death after physical activity or emotional stress. Some patients have muscle weakness. CPVT5 inheritance is autosomal recessive. {ECO:0000269 PubMed:22422768}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TRDN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TRDN: view

No data available for Genatlas for TRDN Gene

Publications for TRDN Gene

  1. Molecular cloning of the cDNA encoding human skeletal muscle triadin and its localisation to chromosome 6q22-6q23. (PMID: 7588753) Taske NL … Foster PS (European journal of biochemistry 1995) 2 3 4 23
  2. Parallel genotyping of 10,204 single nucleotide polymorphisms to screen for susceptible genes for IgA nephropathy. (PMID: 19890582) Woo KT … Chan CM (Annals of the Academy of Medicine, Singapore 2009) 3 23 41
  3. Distinct regions of triadin are required for targeting and retention at the junctional domain of the sarcoplasmic reticulum. (PMID: 24325401) Rossi D … Sorrentino V (The Biochemical journal 2014) 3 4
  4. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. (PMID: 22422768) Roux-Buisson N … Marty I (Human molecular genetics 2012) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for TRDN Gene

Sources for TRDN Gene