TRDN (triadin)

2014-11-01  

Identity

HGNC
TRDN
LOCATION
6q22.31
LOCUSID
10345
ALIAS
CPVT5,TDN,TRISK
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10345
MIM: 603283
HGNC: 12261
Ensembl: ENSG00000186439

Variants:

dbSNP: 10345
ClinVar: 10345
TCGA: ENSG00000186439
COSMIC: TRDN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186439ENST00000334268Q13061
ENSG00000186439ENST00000361029H7BY47
ENSG00000186439ENST00000422596H0Y6P0
ENSG00000186439ENST00000542443Q13061
ENSG00000186439ENST00000546248H9ME53
ENSG00000186439ENST00000628709Q13061
ENSG00000186439ENST00000662930A0A590UJV0

Expression (GTEx)

0
50
100
150
200
250
300
350
400
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
224227682012Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.65
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
175266522007Histidine-rich Ca-binding protein interacts with sarcoplasmic reticulum Ca-ATPase.41
259224192015Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome.21
126598712003Human skeletal muscle triadin: gene organization and cloning of the major isoform, Trisk 51.12
275620702016Triadin and CLIMP-63 form a link between triads and microtubules in muscle cells.8
262006742015New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.7
198905822009Parallel genotyping of 10,204 single nucleotide polymorphisms to screen for susceptible genes for IgA nephropathy.4
198905822009Parallel genotyping of 10,204 single nucleotide polymorphisms to screen for susceptible genes for IgA nephropathy.4
267689642016Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings.4

Citation

Dessen P

TRDN (triadin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75128/trdn