TTR (transthyretin)

2007-02-01  

Identity

HGNC
TTR
LOCATION
18q12.1
LOCUSID
7276
ALIAS
ATTR,CTS,CTS1,HEL111,HsT2651,PALB,TBPA,TTN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7276
MIM: 176300
HGNC: 12405
Ensembl: ENSG00000118271

Variants:

dbSNP: 7276
ClinVar: 7276
TCGA: ENSG00000118271
COSMIC: TTR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118271ENST00000237014P02766
ENSG00000118271ENST00000237014E9KL36
ENSG00000118271ENST00000610404A0A087WT59
ENSG00000118271ENST00000613781A0A087WV45
ENSG00000118271ENST00000649620P02766
ENSG00000118271ENST00000649620E9KL36

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
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
Thyroid hormone synthesisKEGGhsa04918
Thyroid hormone synthesisKEGGko04918
Metabolism of proteinsREACTOMER-HSA-392499
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Diseases associated with visual transductionREACTOMER-HSA-2474795
Retinoid cycle disease eventsREACTOMER-HSA-2453864
Amyloid fiber formationREACTOMER-HSA-977225
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Extracellular matrix organizationREACTOMER-HSA-1474244
Non-integrin membrane-ECM interactionsREACTOMER-HSA-3000171
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667
Neutrophil degranulationREACTOMER-HSA-6798695

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166182756inotersenChemicalLabelAnnotationassociated
PA166184562tafamidisChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
380083372024Characterization of the G-quadruplexes in the transthyretin gene and its role in silencing transthyretin mRNA transcription.0
381841352024Prevalence of transthyretin amyloid cardiomyopathy in patients admitted for acute heart failure.0
382896142024Transthyretin-Regulated Diabetic Retinopathy Through the VEGFA/PI3K/AKT Pathway.0
383995262024Rare c.302C>T TTR Variant Associated with Transthyretin Amyloidosis.0
384860982024Altered gut microbiota in Taiwanese A97S predominant transthyretin amyloidosis with polyneuropathy.0
386266472024Targeting TNF-α-induced expression of TTR and RAGE in rheumatoid arthritis: Apigenin's mediated therapeutic approach.0
387756142024Scintigraphic and Echocardiographic Study of Patients with Pathogenic or Probably Pathogenic Variants of the TTR Gene without Overt Cardiac Involvement.1
388431352024Modeling transthyretin (TTR) amyloid diseases, from monomer to amyloid fibrils.0
380083372024Characterization of the G-quadruplexes in the transthyretin gene and its role in silencing transthyretin mRNA transcription.0
381841352024Prevalence of transthyretin amyloid cardiomyopathy in patients admitted for acute heart failure.0
382896142024Transthyretin-Regulated Diabetic Retinopathy Through the VEGFA/PI3K/AKT Pathway.0
383995262024Rare c.302C>T TTR Variant Associated with Transthyretin Amyloidosis.0
384860982024Altered gut microbiota in Taiwanese A97S predominant transthyretin amyloidosis with polyneuropathy.0
386266472024Targeting TNF-α-induced expression of TTR and RAGE in rheumatoid arthritis: Apigenin's mediated therapeutic approach.0
387756142024Scintigraphic and Echocardiographic Study of Patients with Pathogenic or Probably Pathogenic Variants of the TTR Gene without Overt Cardiac Involvement.1

Citation

Dessen P

TTR (transthyretin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46017