TTR (transthyretin)

2007-02-01  

Identity

HGNC
LOCATION
18q12.1
LOCUSID
ALIAS
ATTR,CTS,CTS1,HEL111,HsT2651,PALB,TBPA,TTN
FUSION GENES

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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166182756inotersenChemicalLabelAnnotationassociated
PA166184562tafamidisChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
125605532003Prevention of transthyretin amyloid disease by changing protein misfolding energetics.125
149812412004Tissue damage in the amyloidoses: Transthyretin monomers and nonnative oligomers are the major cytotoxic species in tissue culture.103
229495392012Transthyretin (TTR) cardiac amyloidosis.88
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
115772362001Trans-suppression of misfolding in an amyloid disease.78
124810322002Molecular conformation of a peptide fragment of transthyretin in an amyloid fibril.56
193896242009Gas-phase unfolding and disassembly reveals stability differences in ligand-bound multiprotein complexes.48
218809102011Neuronal production of transthyretin in human and murine Alzheimer's disease: is it protective?45
222287852012Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas.39
124332652002Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form.38

Citation

Dessen P

TTR (transthyretin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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