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Aliases for TTR Gene

Aliases for TTR Gene

  • Transthyretin 2 3 5
  • Prealbumin, Amyloidosis Type I 2 3
  • Carpal Tunnel Syndrome 1 2 3
  • PALB 3 4
  • 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 Degradation of the extracellular matrix and Signaling by GPCR. 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

Promoters for TTR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TTR on UCSC Golden Path with GeneCards custom track

Genomic Location for TTR Gene

Chromosome:
18
Start:
31,591,726 bp from pter
End:
31,599,024 bp from pter
Size:
7,299 bases
Orientation:
Plus strand

Genomic View for TTR Gene

Genes around TTR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P02766-TTHY_HUMAN
    Recommended name:
    Transthyretin
    Protein Accession:
    P02766
    Secondary Accessions:
    • Q549C7
    • Q6IB96
    • Q9UBZ6
    • Q9UCM9

    Protein attributes for TTR Gene

    Size:
    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.
    Miscellaneous:
    • 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 Asn 118
  • Modification sites at PhosphoSitePlus

Other Protein References for TTR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

No data available for DME Specific Peptides for TTR Gene

Domains & Families for TTR Gene

Gene Families for TTR Gene

Suggested Antigen Peptide Sequences for TTR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02766

UniProtKB/Swiss-Prot:

TTHY_HUMAN :
  • 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.
Domain:
  • 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.
Family:
  • Belongs to the transthyretin family.
genes like me logo Genes that share domains with TTR: view

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

Human Phenotype Ontology for TTR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TTR Gene

MGI Knock Outs for TTR:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for TTR Gene

Localization for TTR Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTR Gene

Secreted. Cytoplasm.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for TTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
genes like me logo Genes that share ontologies with TTR: view

Pathways & Interactions 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:0007603 phototransduction, visible light TAS --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with TTR: view

No data available for SIGNOR curated interactions for TTR Gene

Drugs & Compounds for TTR Gene

(113) Drugs for TTR Gene - From: Novoseek, DrugBank, ClinicalTrials, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Levothyroxine Approved Pharma Carrier 0
Liothyronine Approved Pharma Carrier 0
Diclofenac Approved Pharma Channel blocker, Carrier 273
Diethylstilbestrol Approved Pharma Agonist, Carrier 5
Diflunisal Approved Pharma Carrier 4

(50) Additional Compounds for TTR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TTR: view

Transcripts for TTR Gene

Unigene Clusters for TTR Gene

Transthyretin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b
SP1: -
SP2:
SP3: - -

Relevant External Links for TTR Gene

GeneLoc Exon Structure for
TTR
ECgene alternative splicing isoforms for
TTR

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 (x39.2) and Pancreas (x4.2).

Protein differential expression in normal tissues from HIPED for TTR Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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

P02766-TTHY_HUMAN
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 expression patterns with TTR: view

Protein tissue co-expression partners for TTR Gene

- Elite partner

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia TTR 36
  • 97 (a)
OneToOne
TTR 35
  • 98.19 (n)
  • 97.96 (a)
cow
(Bos Taurus)
Mammalia TTR 36
  • 85 (a)
OneToOne
TTR 35
  • 85.84 (n)
  • 85.62 (a)
dog
(Canis familiaris)
Mammalia TTR 35
  • 87.3 (n)
  • 85.03 (a)
TTR 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttr 16
Ttr 35
  • 81.86 (n)
  • 81.63 (a)
Ttr 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TTR 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTR 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttr 35
  • 82.31 (n)
  • 82.31 (a)
chicken
(Gallus gallus)
Aves TTR 35
  • 73.47 (n)
  • 74.83 (a)
TTR 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTR 36
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397787 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ttr 35
  • 66.93 (n)
  • 60.47 (a)
zebrafish
(Danio rerio)
Actinopterygii ttr 36
  • 48 (a)
OneToOne
ttr 35
  • 58.6 (n)
  • 53.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG30016 36
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea R09H10.3 36
  • 28 (a)
OneToMany
ZK697.8 36
  • 25 (a)
OneToMany
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

ENSEMBL:
Gene Tree for TTR (if available)
TreeFam:
Gene Tree for TTR (if available)

Paralogs for TTR Gene

(2) 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
VAR_007583 Amyloidosis, transthyretin-related (AMYL-TTR)
VAR_007584 Amyloidosis, transthyretin-related (AMYL-TTR)
VAR_007585 Amyloidosis, transthyretin-related (AMYL-TTR)
VAR_007586 -
VAR_007587 Amyloidosis, transthyretin-related (AMYL-TTR)

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

Variation tolerance for TTR Gene

Residual Variation Intolerance Score: 72.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.18; 39.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTR Gene

HapMap Linkage Disequilibrium report
TTR
Human Gene Mutation Database (HGMD)
TTR

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

Disorders for TTR Gene

MalaCards: The human disease database

(76) MalaCards diseases for TTR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amyloidosis, hereditary, transthyretin-related
  • transthyretin amyloidosis
carpal tunnel syndrome, familial
  • carpal tunnel syndrome
hyperthyroxinemia, dystransthyretinemic
  • dystransthyretinemic euthyroidal hyperthyroxinemia
attrv30m amyloidosis
  • transthyretin amyloid neuropathy
attrv122i amyloidosis
  • attr cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards
Search TTR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TTHY_HUMAN
  • 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.

Relevant External Links for TTR

Genetic Association Database (GAD)
TTR
Human Genome Epidemiology (HuGE) Navigator
TTR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTR
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 transthyretin mutation associated with amyloid cardiomyopathy. (PMID: 1570831) Saraiva M.J.M. … Goodman D.S. (Am. J. Hum. Genet. 1992) 3 4 23 48 67
  2. Conformational differences between the wild type and V30M mutant transthyretin modulate its binding to genistein: implications to tetramer stability and ligand-binding. (PMID: 20211733) Trivella D.B. … Polikarpov I. (J. Struct. Biol. 2010) 3 23
  3. Characterization of cysteine and homocysteine bound to human serum transthyretin. (PMID: 19361464) Hanyu N. … Hidaka H. (Clin. Chim. Acta 2009) 3 23
  4. Positive association between ALDH1A2 and schizophrenia in the Chinese population. (PMID: 19703508) Wan C. … He L. (Prog. Neuropsychopharmacol. Biol. Psychiatry 2009) 3 23
  5. Clusterin regulates transthyretin amyloidosis. (PMID: 19664600) Lee K.W. … Choi W.S. (Biochem. Biophys. Res. Commun. 2009) 3 23

Products for TTR Gene

Sources for TTR Gene

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