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Aliases for TTR Gene

Aliases for TTR Gene

  • Transthyretin 2 3
  • PALB 3 4 6
  • Prealbumin, Amyloidosis Type I 2 3
  • Carpal Tunnel Syndrome 1 2 3
  • ATTR 3 4
  • TBPA 3 4
  • Epididymis Luminal Protein 111 3
  • Thyroxine-Binding Prealbumin 3
  • Prealbumin 4
  • HsT2651 3
  • HEL111 3
  • CTS1 3
  • CTS 3

External Ids for TTR Gene

Previous HGNC Symbols for TTR Gene

  • PALB
  • CTS1

Previous GeneCards Identifiers for TTR Gene

  • GC18P029194
  • GC18P028991
  • GC18P027423
  • GC18P027425
  • GC18P026028

Summaries for TTR Gene

Entrez Gene Summary for TTR Gene

  • This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq, Jan 2009]

GeneCards Summary for TTR Gene

TTR (Transthyretin) is a Protein Coding gene. Diseases associated with TTR include amyloidosis, hereditary, transthyretin-related and carpal tunnel syndrome, familial. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include identical protein binding and hormone activity.

UniProtKB/Swiss-Prot for TTR Gene

  • Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.

Gene Wiki entry for TTR Gene

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

Genomics for TTR Gene

Regulatory Elements for TTR Gene

Genomic Location for TTR Gene

31,591,726 bp from pter
31,599,024 bp from pter
7,299 bases
Plus strand

Genomic View for TTR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TTR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTR Gene

Proteins for TTR Gene

  • Protein details for TTR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q549C7
    • Q6IB96
    • Q9UBZ6
    • Q9UCM9

    Protein attributes for TTR Gene

    147 amino acids
    Molecular mass:
    15887 Da
    Quaternary structure:
    • Homotetramer. Dimer of dimers. In the homotetramer, subunits assemble around a central channel that can accommodate two ligand molecules. Interacts with RBP4.
    • About 40% of plasma transthyretin circulates in a tight protein-protein complex with the plasma retinol-binding protein (RBP). The formation of the complex with RBP stabilizes the binding of retinol to RBP and decreases the glomerular filtration and renal catabolism of the relatively small RBP molecule. There is evidence for 2 binding sites for RBP, one possibly being a region that includes Ile-104, located on the outer surface of the transthyretin molecule
    • Tetramer dissociation and partial unfolding leads to the formation of aggregates and amyloid fibrils. Small molecules that occupy at least one of the thyroid hormone binding sites stabilize the tetramer, and thereby stabilize the native state and protect against misfolding and the formation of amyloid fibrils
    • Two binding sites for thyroxine are located in the channel. Less than 1% of plasma prealbumin molecules are normally involved in thyroxine transport. L-thyroxine binds to the transthyretin by an order of magnitude stronger than does the triiodo-L-thyronine. Thyroxine-binding globulin is the major carrier protein for thyroid hormones in man

    Three dimensional structures from OCA and Proteopedia for TTR Gene

neXtProt entry for TTR Gene

Proteomics data for TTR Gene at MOPED

Post-translational modifications for TTR Gene

  • Not glycosylated under normal conditions. Following unfolding, caused for example by variant AMYL-TTR Gly-38, the cryptic Asn-118 site is exposed and glycosylated by STT3B-containing OST complex, leading to its degradation by the ER-associated degradation (ERAD) pathway.
  • Glycosylation at Asn118
  • Modification sites at PhosphoSitePlus

Other Protein References for TTR Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for TTR (Transthyretin/Prealbumin)

No data available for DME Specific Peptides for TTR Gene

Domains for TTR Gene

Suggested Antigen Peptide Sequences for TTR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • P02766
  • Each monomer has two 4-stranded beta sheets and the shape of a prolate ellipsoid. Antiparallel beta-sheet interactions link monomers into dimers. A short loop from each monomer forms the main dimer-dimer interaction. These two pairs of loops separate the opposed, convex beta-sheets of the dimers to form an internal channel
  • Belongs to the transthyretin family.
genes like me logo Genes that share domains with TTR: view

No data available for Gene Families for TTR Gene

Function for TTR Gene

Molecular function for TTR Gene

GENATLAS Biochemistry:
transthyretin (prealbumin)
UniProtKB/Swiss-Prot Function:
Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.

Gene Ontology (GO) - Molecular Function for TTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
GO:0005515 protein binding IPI 16716307
GO:0042562 hormone binding --
GO:0042802 identical protein binding IPI 19861125
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with TTR: view
genes like me logo Genes that share phenotypes with TTR: view

Animal Models for TTR Gene

MGI Knock Outs for TTR:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TTR

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for TTR Gene

Localization for TTR Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTR Gene

Secreted. Cytoplasm.

Subcellular locations from

Jensen Localization Image for TTR Gene COMPARTMENTS Subcellular localization image for TTR gene
Compartment Confidence
extracellular 5
cytoskeleton 2
endoplasmic reticulum 2
nucleus 2
cytosol 1
golgi apparatus 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 16502470
GO:0005737 cytoplasm IEA --
GO:0043234 protein complex IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with TTR: view

Pathways for TTR Gene

genes like me logo Genes that share pathways with TTR: view

Pathways by source for TTR Gene

Gene Ontology (GO) - Biological Process for TTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006810 transport NAS 10841549
GO:0007603 phototransduction, visible light TAS --
GO:0030198 extracellular matrix organization TAS --
GO:0042572 retinol metabolic process IEA --
genes like me logo Genes that share ontologies with TTR: view

Compounds for TTR Gene

(3) HMDB Compounds for TTR Gene

Compound Synonyms Cas Number PubMed IDs
Dimethyl sulfoxide
  • (methylsulfinyl)methane
  • 3,3',5-Triiodo-L-thyronine
  • (-)-Thyroxine

(118) Novoseek inferred chemical compound relationships for TTR Gene

Compound -log(P) Hits PubMed IDs
vitamin a 84.1 208
thyroxine 79.4 160
stresson 74.4 1
diflunisal 67.2 25
4-iodo-4-deoxydoxorubicin 58.4 8
genes like me logo Genes that share compounds with TTR: view

Transcripts for TTR Gene

mRNA/cDNA for TTR Gene

Unigene Clusters for TTR Gene

Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TTR

Primer Products

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b
SP1: -
SP3: - -

Relevant External Links for TTR Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TTR Gene

mRNA expression in normal human tissues for TTR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TTR Gene

This gene is overexpressed in Liver (39.2) and Pancreas (4.2).

Protein differential expression in normal tissues for TTR Gene

This gene is overexpressed in Cerebrospinal fluid (19.0), Plasma (11.2), and Serum (7.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TTR Gene

SOURCE GeneReport for Unigene cluster for TTR Gene Hs.427202

mRNA Expression by UniProt/SwissProt for TTR Gene

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.
genes like me logo Genes that share expressions with TTR: view

Expression partners for TTR Gene

In Situ Assay Products

Orthologs for TTR Gene

This gene was present in the common ancestor of animals.

Orthologs for TTR Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TTR 35
  • 85.84 (n)
  • 85.62 (a)
TTR 36
  • 85 (a)
(Canis familiaris)
Mammalia TTR 35
  • 87.3 (n)
  • 85.03 (a)
TTR 36
  • 85 (a)
(Mus musculus)
Mammalia Ttr 35
  • 81.86 (n)
  • 81.63 (a)
Ttr 16
Ttr 36
  • 82 (a)
(Pan troglodytes)
Mammalia TTR 35
  • 98.19 (n)
  • 97.96 (a)
TTR 36
  • 97 (a)
(Rattus norvegicus)
Mammalia Ttr 35
  • 82.31 (n)
  • 82.31 (a)
(Monodelphis domestica)
Mammalia TTR 36
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia TTR 36
  • 66 (a)
(Gallus gallus)
Aves TTR 35
  • 73.47 (n)
  • 74.83 (a)
TTR 36
  • 73 (a)
(Anolis carolinensis)
Reptilia TTR 36
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ttr 35
  • 66.93 (n)
  • 60.47 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC397787 35
(Danio rerio)
Actinopterygii ttr 35
  • 58.6 (n)
  • 53.23 (a)
ttr 36
  • 48 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG30016 36
  • 25 (a)
(Caenorhabditis elegans)
Secernentea R09H10.3 36
  • 28 (a)
ZK697.8 36
  • 25 (a)
Species with no ortholog for TTR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for TTR Gene

Gene Tree for TTR (if available)
Gene Tree for TTR (if available)

Paralogs for TTR Gene

Selected SIMAP similar genes for TTR Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TTR: view

No data available for Paralogs for TTR Gene

Variants for TTR Gene

Sequence variations from dbSNP and Humsavar for TTR Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs12226 -- 31,598,696(+) GTGGA(A/C)CTGAA utr-variant-3-prime
rs723744 -- 31,592,513(-) ATAGT(A/C)ACTCC intron-variant
rs1061978 -- 31,598,755(+) AAGCA(C/G)TGTTT utr-variant-3-prime
rs1080093 -- 31,593,717(+) CATGT(C/G)CAAGA intron-variant
rs1080094 -- 31,593,832(+) TGACC(A/C/G/T)GAAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TTR Gene

Variant ID Type Subtype PubMed ID
nsv833615 CNV Gain 17160897
nsv909519 CNV Gain 21882294

Relevant External Links for TTR Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

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

Disorders for TTR Gene

(3) OMIM Diseases for TTR Gene (176300)


  • Amyloidosis, transthyretin-related (AMYL-TTR) [MIM:105210]: A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. {ECO:0000269 PubMed:10036587, ECO:0000269 PubMed:10071047, ECO:0000269 PubMed:10211412, ECO:0000269 PubMed:10436378, ECO:0000269 PubMed:10439117, ECO:0000269 PubMed:10611950, ECO:0000269 PubMed:10627135, ECO:0000269 PubMed:10694917, ECO:0000269 PubMed:10842705, ECO:0000269 PubMed:10842718, ECO:0000269 PubMed:10882995, ECO:0000269 PubMed:11445644, ECO:0000269 PubMed:11866053, ECO:0000269 PubMed:12050338, ECO:0000269 PubMed:12557757, ECO:0000269 PubMed:12771253, ECO:0000269 PubMed:1301926, ECO:0000269 PubMed:1351039, ECO:0000269 PubMed:1362222, ECO:0000269 PubMed:1436517, ECO:0000269 PubMed:1517749, ECO:0000269 PubMed:1520326, ECO:0000269 PubMed:1520336, ECO:0000269 PubMed:15214015, ECO:0000269 PubMed:15217993, ECO:0000269 PubMed:1544214, ECO:0000269 PubMed:15478468, ECO:0000269 PubMed:1570831, ECO:0000269 PubMed:1656975, ECO:0000269 PubMed:1734866, ECO:0000269 PubMed:17453626, ECO:0000269 PubMed:17503405, ECO:0000269 PubMed:17577687, ECO:0000269 PubMed:17635579, ECO:0000269 PubMed:1932142, ECO:0000269 PubMed:2046936, ECO:0000269 PubMed:2161654, ECO:0000269 PubMed:23317988, ECO:0000269 PubMed:2363717, ECO:0000269 PubMed:2891727, ECO:0000269 PubMed:3022108, ECO:0000269 PubMed:3135807, ECO:0000269 PubMed:3722385, ECO:0000269 PubMed:3818577, ECO:0000269 PubMed:6487335, ECO:0000269 PubMed:6583672, ECO:0000269 PubMed:6651852, ECO:0000269 PubMed:7655883, ECO:0000269 PubMed:7850982, ECO:0000269 PubMed:7910950, ECO:0000269 PubMed:7914929, ECO:0000269 PubMed:7923855, ECO:0000269 PubMed:8019560, ECO:0000269 PubMed:8038017, ECO:0000269 PubMed:8081397, ECO:0000269 PubMed:8095302, ECO:0000269 PubMed:8133316, ECO:0000269 PubMed:8257997, ECO:0000269 PubMed:8352764, ECO:0000269 PubMed:8579098, ECO:0000269 PubMed:8990019, ECO:0000269 PubMed:9066351, ECO:0000269 PubMed:9605286, ECO:0000269 Ref.90}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hyperthyroxinemia, dystransthyretinemic (DTTRH) [MIM:145680]: A condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities. {ECO:0000269 PubMed:1979335}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Carpal tunnel syndrome 1 (CTS1) [MIM:115430]: A condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis. {ECO:0000269 PubMed:8309582}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(98) Novoseek inferred disease relationships for TTR Gene

Disease -log(P) Hits PubMed IDs
familial amyloid polyneuropathies 95.9 108
amyloidosis 91.9 244
amyloid neuropathies 91.5 33
polyneuropathy 91.2 136
amyloidosis systemic 90.7 93

Relevant External Links for TTR

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with TTR: view

No data available for Genatlas for TTR Gene

Publications for TTR Gene

  1. A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. (PMID: 1362222) Uemichi T. … Benson M.D. (J. Med. Genet. 1992) 3 4 23 48
  2. A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy. (PMID: 1520326) Murakami T. … Ando M. (Biochem. Biophys. Res. Commun. 1992) 3 4 23 48
  3. A new transthyretin mutation associated with amyloid cardiomyopathy. (PMID: 1570831) Saraiva M.J.M. … Goodman D.S. (Am. J. Hum. Genet. 1992) 3 4 23 48
  4. Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. (PMID: 1544214) Jones L.A. … Skinner M. (Clin. Genet. 1992) 3 4 23
  5. Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. (PMID: 1301926) Almeida M.R. … Saraiva M.J. (Hum. Mutat. 1992) 3 4 23

Products for TTR Gene

  • Addgene plasmids for TTR

Sources for TTR Gene

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