Gene Gene information from NCBI Gene database.
Entrez ID 7276
Gene name Transthyretin
Gene symbol TTR
Synonyms (NCBI Gene)
ATTRCTSCTS1HEL111HsT2651PALBTBPATTN
Chromosome 18
Chromosome location 18q12.1
Summary This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal f
SNPs SNP information provided by dbSNP.
64
SNP ID Visualize variation Clinical significance Consequence
rs11541790 C>T Pathogenic Missense variant, coding sequence variant
rs11541795 C>A,T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs11541796 A>G Pathogenic Missense variant, coding sequence variant
rs11541797 C>T Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign Synonymous variant, coding sequence variant
rs28933979 G>A,C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
62
miRTarBase ID miRNA Experiments Reference
MIRT650579 hsa-miR-6747-3p HITS-CLIP 23824327
MIRT650578 hsa-miR-3653-5p HITS-CLIP 23824327
MIRT650577 hsa-miR-1976 HITS-CLIP 23824327
MIRT650576 hsa-miR-4279 HITS-CLIP 23824327
MIRT650575 hsa-miR-6869-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process IEA
GO:0003105 Process Negative regulation of glomerular filtration IEA
GO:0005179 Function Hormone activity IEA
GO:0005515 Function Protein binding IPI 986177, 16189514, 16716307, 18272491, 20646067, 21777382, 21900206, 25416956, 29892012, 29997244, 30213975, 31515488, 32296183, 32814053, 33961781
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176300 12405 ENSG00000118271
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02766
Protein name Transthyretin (ATTR) (Prealbumin) (TBPA)
Protein function Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
PDB 1BM7 , 1BMZ , 1BZ8 , 1BZD , 1BZE , 1DVQ , 1DVS , 1DVT , 1DVU , 1DVX , 1DVY , 1DVZ , 1E3F , 1E4H , 1E5A , 1ETA , 1ETB , 1F41 , 1F86 , 1FH2 , 1FHN , 1G1O , 1GKO , 1ICT , 1III , 1IIK , 1IJN , 1QAB , 1QWH , 1RLB , 1SOK , 1SOQ , 1THA , 1THC , 1TLM , 1TSH , 1TT6 , 1TTA , 1TTB , 1TTC , 1TTR , 1TYR , 1TZ8 , 1U21 , 1X7S , 1X7T , 1Y1D , 1Z7J , 1ZCR , 1ZD6 , 2B14
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00576 Transthyretin 32 139 HIUase/Transthyretin family Domain
Tissue specificity TISSUE SPECIFICITY: Detected in serum and cerebrospinal fluid (at protein level). Highly expressed in choroid plexus epithelial cells. Detected in retina pigment epithelium and liver. {ECO:0000269|PubMed:10328977, ECO:0000269|PubMed:3714052}.
Sequence
Sequence length 147
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Thyroid hormone synthesis   Retinoid cycle disease events
The canonical retinoid cycle in rods (twilight vision)
Non-integrin membrane-ECM interactions
Neutrophil degranulation
Retinoid metabolism and transport
Amyloid fiber formation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
803
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyloidosis Pathogenic; Likely pathogenic rs2144406525, rs76992529 RCV003447595
RCV004798727
Amyloidosis, hereditary systemic 1 Likely pathogenic; Pathogenic rs113625622, rs1340627860, rs2144409459, rs121918099, rs2144406525, rs1567945702, rs121918082, rs751430411, rs2144409444, rs958191819, rs2144414426, rs121918072, rs1555631387, rs121918074, rs779619795
View all (70 more)
RCV001377431
RCV001379926
RCV001378793
RCV001378794
RCV001389002
RCV001389003
RCV001386305
RCV001386306
RCV001534617
RCV001718568
RCV001808154
RCV001999713
RCV001942058
RCV002049135
RCV001904544
RCV001975098
RCV001986200
RCV002024760
RCV002294539
RCV000560691
RCV001228889
RCV003514316
RCV003514317
RCV002444407
RCV003050501
RCV003064510
RCV003064512
RCV003084912
RCV003084913
RCV002839096
RCV002923158
RCV003626611
RCV003335804
RCV000014359
RCV000014360
RCV000014361
RCV000014362
RCV000014363
RCV000014364
RCV000014365
RCV000014366
RCV000014368
RCV000014370
RCV000014371
RCV000014372
RCV000014374
RCV000014377
RCV000014378
RCV000014379
RCV000014380
RCV000014381
RCV000014382
RCV000014383
RCV000014384
RCV000014385
RCV000014386
RCV000014387
RCV000014388
RCV000014389
RCV000014390
RCV000014392
RCV000014393
RCV000014395
RCV000014397
RCV000014398
RCV000014399
RCV000014401
RCV000014402
RCV000014403
RCV004555832
RCV000036373
RCV001857350
RCV000586493
RCV000014410
RCV003516383
RCV003515823
RCV003627531
RCV001054408
RCV001857934
RCV000030571
RCV000030572
RCV000587406
RCV000647353
RCV000663430
RCV000685149
RCV000699004
RCV000700173
RCV000693117
RCV002249489
RCV000819070
RCV000817566
RCV000797923
RCV000817641
RCV000990082
RCV000990083
RCV003514451
RCV001042832
RCV001054625
RCV001048418
RCV001058837
RCV001049648
RCV001220285
RCV001215017
RCV001207386
RCV001211103
RCV001204571
RCV001236265
RCV001239365
RCV001303075
ATTRV122I amyloidosis Likely pathogenic; Pathogenic rs76992529 RCV000853387
Cardiomyopathy Pathogenic; Likely pathogenic rs28933979, rs121918070, rs76992529 RCV000770555
RCV000852477
RCV000211747
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AMYLOIDOSIS, HEREDITARY SYSTEMIC 1, MODIFIER OF Conflicting classifications of pathogenicity rs28933981 RCV000014376
Brugada syndrome Uncertain significance rs745834030 RCV000852478
Conduction disorder of the heart Uncertain significance rs745834030 RCV001256815
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs121918088 RCV004558030
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 10455100, 10551861, 10854214, 10854215, 10998371, 11106758, 11518707, 12876326, 1321563, 1362222, 15377697, 15816901, 16219761, 17029284, 17076759
View all (53 more)
AA amyloidosis Inhibit 29087319, 36328502, 8938268
AA amyloidosis Stimulate 40429650
Abnormalities Multiple Associate 30170966
Abortion Habitual Stimulate 25096020
Abortion Spontaneous Inhibit 37968664
Adenomatous Polyposis Coli Associate 15115956, 17061984, 23993291, 24781992, 27793437, 30810593, 33373035, 3457802, 8095018
Alcoholic Neuropathy Associate 35279758, 36366846
Alzheimer Disease Inhibit 16716350, 29087319, 9559653
Alzheimer Disease Associate 19328595, 23028965, 23133543, 24528201, 24756957, 26627638, 27249223, 34151536, 36633448