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Aliases for TRDN Gene

Aliases for TRDN Gene

  • Triadin 2 3 3 5
  • CPVT5 3
  • TRISK 3
  • 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cardiac conduction. GO annotations related to this gene include protein homodimerization activity and ion channel binding.

UniProtKB/Swiss-Prot 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

Additional gene information for TRDN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRDN Gene

Genomics for TRDN Gene

Regulatory Elements for TRDN Gene

Enhancers for TRDN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H123587 0.6 ENCODE 11.1 +48.1 48118 2 CC2D1A ZNF610 HINFP CEBPB ZIC2 ZBTB5 TRDN LOC105377981 LOC105377982
GH06H122712 1.1 Ensembl ENCODE 4.3 +927.0 926983 0 PKNOX1 ATF1 BMI1 ZNF766 ETV6 ATF7 RUNX3 CREM IKZF2 CBFB SMPDL3A PKIB TRDN RN7SL564P ENSG00000272472
GH06H123660 0.4 dbSUPER 11.4 -24.9 -24934 3 ATF2 TRDN NKAIN2
GH06H123603 0.4 dbSUPER 11.3 +33.0 32951 1 TRIM28 TRDN LOC105377981 LOC105377982
GH06H123628 0.4 dbSUPER 4.7 +7.7 7721 1 MAFG NFE2 TRDN LOC105377981
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TRDN on UCSC Golden Path with GeneCards custom track

Genomic Location for TRDN Gene

Chromosome:
6
Start:
123,216,339 bp from pter
End:
123,637,283 bp from pter
Size:
420,945 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
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TRDN Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TRDN Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for TRDN Gene

Function for TRDN Gene

Molecular function for TRDN Gene

GENATLAS Biochemistry:
triadin,94/95 kDa,junctional terminal cisternae protein from skeletal muscle,putatively involved in excitation/contraction coupling
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.

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 receptor binding IEA --
GO:0005515 protein binding IPI 17526652
GO:0030674 protein binding, bridging ISS --
GO:0044325 ion channel binding IBA,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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TRDN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
cytoskeleton 1
nucleus 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:0005783 endoplasmic reticulum ISS --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA,IBA --
GO:0005891 colocalizes_with voltage-gated calcium channel complex ISS --
GO:0014701 junctional sarcoplasmic reticulum membrane 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

Interacting Proteins 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: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 --
GO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum 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

Unigene Clusters for TRDN Gene

Triadin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TRDN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for TRDN Gene

GeneLoc Exon Structure for
TRDN
ECgene alternative splicing isoforms for
TRDN

Expression for TRDN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of TRDN Gene:

TRDN

SOURCE GeneReport for Unigene cluster for TRDN Gene:

Hs.144744

Evidence on tissue expression from TISSUES for TRDN Gene

  • Muscle(5)
  • Heart(3.2)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
Organs:
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 33 34
  • 90.44 (n)
cow
(Bos Taurus)
Mammalia TRDN 33 34
  • 89.73 (n)
chimpanzee
(Pan troglodytes)
Mammalia TRDN 34
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trdn 33
  • 81.17 (n)
mouse
(Mus musculus)
Mammalia Trdn 33 16 34
  • 80.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TRDN 34
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRDN 34
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRDN 34
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRDN 34
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii trdn 34
  • 18 (a)
OneToOne
Species where no ortholog for TRDN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for TRDN Gene

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

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 from dbSNP and Humsavar for TRDN Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs397515459 Pathogenic, Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (CPVT5) [MIM:615441] 123,570,979(-) AATCA(C/G/T)GTGGT downstream-variant-500B, reference, missense
rs397515458 Pathogenic 123,503,899(-) CAGAA(C/T)AGAAG reference, stop-gained
rs768049331 Pathogenic 123,571,099(+) TTTTG(-/CTGT)CTATC downstream-variant-500B, reference, frameshift-variant
rs117101205 Likely benign 123,218,185(+) TTATA(C/T)AAGCT utr-variant-3-prime
rs145992727 Likely benign 123,571,071(+) TTTCC(A/G)GGGGA downstream-variant-500B, reference, synonymous-codon

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)

Relevant External Links for TRDN Gene

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

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

Disorders for TRDN Gene

MalaCards: The human disease database

(6) MalaCards diseases for TRDN Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TRDN in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for TRDN

Genetic Association Database (GAD)
TRDN
Human Genome Epidemiology (HuGE) Navigator
TRDN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRDN
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 22 60
  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 22 45 60
  3. 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 60
  4. 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 45 60
  5. Family-based association study for bipolar affective disorder. (PMID: 20414141) Secolin R … Lopes-Cendes I (Psychiatric genetics 2010) 3 45 60

Products for TRDN Gene

Sources for TRDN Gene

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