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TTR Gene

protein-coding   GIFtS: 69
GCID: GC18P029194

Transthyretin

(Previous names: prealbumin, amyloidosis type I, carpal tunnel syndrome 1)
(Previous symbols: PALB, CTS1)
  See TTR-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
transthyretin1 2     CTS2
PALB1 2 3 5     HEL1112
CTS11 2     HsT26512
Carpal Tunnel Syndrome 11 2     Epididymis Luminal Protein 1112
Prealbumin, Amyloidosis Type I1 2     Thyroxine-Binding Prealbumin2
ATTR2 3     Prealbumin3
TBPA2 3     

External Ids:    HGNC: 124051   Entrez Gene: 72762   Ensembl: ENSG000001182717   OMIM: 1763005   UniProtKB: P027663   

Export aliases for TTR gene to outside databases

Previous GC identifers: GC18P028991 GC18P027423 GC18P027425 GC18P026028


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hyperthyroxinemia, and familial amyloid cardiomyopathy. GO annotations related to this gene include hormone activity and identical protein binding.

UniProtKB/Swiss-Prot: TTHY_HUMAN, P02766
Function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain

Gene Wiki entry for TTR (Transthyretin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the TTR gene promoter:
         MEF-2   Meis-1b   CREB   MEF-2A   deltaCREB   aMEF-2   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTR promoter sequence
   Search Chromatin IP Primers for TTR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TTR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q12.1   Ensembl cytogenetic band:  18q12.1   HGNC cytogenetic band: 18q12.1

TTR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTR gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P029194:  view genomic region     (about GC identifiers)

Start:
29,171,689 bp from pter      End:
29,178,987 bp from pter
Size:
7,299 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TTHY_HUMAN, P02766 (See protein sequence)
Recommended Name: Transthyretin precursor  
Size: 147 amino acids; 15887 Da
Subunit: Homotetramer. Dimer of dimers. In the homotetramer, subunits assemble around a central channel that can
accommodate two ligand molecules. Interacts with RBP4
Miscellaneous: 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
Miscellaneous: 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
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
Selected PDB 3D structures from and Proteopedia for TTR (see all 192):
1BM7 (3D)        1BMZ (3D)        1BZ8 (3D)        1BZD (3D)        1BZE (3D)        1DVQ (3D)    
Secondary accessions: Q549C7 Q6IB96 Q9UBZ6 Q9UCM9

Explore the universe of human proteins at neXtProt for TTR: NX_P02766

Explore proteomics data for TTR at MOPED

Post-translational modifications: 

  • 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) pathway1
  • Glycosylation2 at Asn118
  • Modification sites at PhosphoSitePlus

  • See TTR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000362.1  
    ENSEMBL proteins: 
     ENSP00000237014  
    Reactome Protein details: P02766

    TTR Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TTR

     
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    TTR Antibody Products:

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    Search eBioscience for ELISAs for TTR 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR023416 Transthyretin/HIU_hydrolase_SF
     IPR023419 Transthyretin_CS
     IPR000895 Transthyretin/HIU_hydrolase
     IPR023418 Thyroxine_BS

    Graphical View of Domain Structure for InterPro Entry P02766

    ProtoNet protein and cluster: P02766

    1 Blocks protein domain: IPB000895 Transthyretin

    UniProtKB/Swiss-Prot: TTHY_HUMAN, P02766
    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
    Similarity: Belongs to the transthyretin family


    Find genes that share domains with TTR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TTHY_HUMAN, P02766
    Function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain

         Genatlas biochemistry entry for TTR:
    transthyretin (prealbumin)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005179hormone activity IEA--
    GO:0005515protein binding IPI16716307
    GO:0042562hormone binding IEA--
    GO:0042802identical protein binding IPI19861125
    GO:0046982protein heterodimerization activity IEA--
         
    Find genes that share ontologies with TTR           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Ttr):
     homeostasis/metabolism  no phenotypic analysis  vision/eye 

    Find genes that share phenotypes with TTR           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TTR: Ttrtm1Wsb Ttrtm1Kymm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TTR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TTR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TTR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TTR

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate TTR:
    hsa-miR-141 hsa-miR-593 hsa-miR-200a hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidTTR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TTR
    Predesigned siRNA for gene silencing in human, mouse, rat TTR

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for TTR

    Clone
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    OriGene clones in human, mouse for TTR (see all 6)
    OriGene ORF clones in mouse, rat for TTR
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    GenScript: all cDNA clones in your preferred vector: TTR (NM_000371)
    Sino Biological Human cDNA Clone for TTR
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTR

    Cell Line
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    ESI BIO PureStem Progenitor for TTR: 
    PureStem ES-210, Ecto-ntu Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TTHY_HUMAN, P02766: Secreted. Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton2
    endoplasmic reticulum2
    nucleus2
    cytosol1
    golgi apparatus1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm IEA--
    GO:0043234protein complex IEA--

    Find genes that share ontologies with TTR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TTR About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44
    Retinoid cycle disease events0.00
    2RNA Polymerase I Promoter Opening
    Amyloids0.68
    3Signaling by GPCR
    Signal Transduction0.58
    4the visual cycle I (vertebrates)
    The canonical retinoid cycle in rods (twilight vision)0.44
    5Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.35


    Find genes that share SuperPaths with TTR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for TTR
        Visual Cycle in Retinal Rods

    1 BioSystems Pathway for TTR
        FOXA2 and FOXA3 transcription factor networks


    5 Reactome Pathways for TTR
        Amyloids
    Retinoid metabolism and transport
    Retinoid cycle disease events
    The canonical retinoid cycle in rods (twilight vision)
    Non-integrin membrane-ECM interactions


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TTR
    Interactions:

        GeneGlobe Interaction Network for TTR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TTR (P027661, 2, 3 ENSP000002370144) via UniProtKB, MINT, STRING, and/or I2D (see all 97)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGERQ151091, 2, 3, ENSP000003642174EBI-711909,EBI-1646426 MINT-2635425 MINT-2635447 I2D: score=2 STRING: ENSP00000364217
    ENSG00000206320Q151091, 2, 3EBI-711909,EBI-1646426 MINT-2635425 MINT-2635447 I2D: score=2 
    ENSG00000229058Q151091, 2, 3EBI-711909,EBI-1646426 MINT-2635425 MINT-2635447 I2D: score=2 
    ENSG00000230514Q151091, 2, 3EBI-711909,EBI-1646426 MINT-2635425 MINT-2635447 I2D: score=2 
    ENSG00000231268Q151091, 2, 3EBI-711909,EBI-1646426 MINT-2635425 MINT-2635447 I2D: score=2 
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    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0006810transport IEA--
    GO:0007603phototransduction, visible light TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0042572retinol metabolic process IEA--

    Find genes that share ontologies with TTR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TTR (TTHY)

    3 HMDB Compounds for TTR    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dimethyl sulfoxide(methylsulfinyl)methane;Dimethyl sulfoxide (see all 5)67-68-5--
    Liothyronine3,3',5-Triiodo-L-thyronine (see all 20)6893-02-3--
    Thyroxine(-)-Thyroxine (see all 33)51-48-9--

    Selected DrugBank Compounds for TTR (see all 45)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Diflunisal-- 22494-42-4carrier--15689188 14711308 14968122 17028027 15080795
    Flufenamic Acid-- 530-78-9carrier--17139284 14968122 17016423 10592235 15080795
    3',5'-Dinitro-N-Acetyl-L-Thyronine-- --carrier--17139284 17016423 10592235
    3,3',5,5'-Tetraiodothyroacetic Acid-- --carrier--17139284 17016423 10592235
    Dibenzofuran-4,6-Dicarboxylic Acid-- --carrier--17139284 17016423 10592235
    N-(M-Trifluoromethylphenyl) Phenoxazine-4,6-Dicarboxylic Acid-- --carrier--17139284 17016423 10592235
    O-Trifluoromethylphenyl Anthranilic Acid-- --carrier--17139284 17016423 10592235
    2,4,6-Tribromophenol-- 118-79-6carrier--17139284 17016423
    DiclofenacDiclofenac Acid (see all 4)15307-86-5carrier--14968122 15080795
    Levothyroxine(-)-Thyroxine (see all 13)51-48-9carrier--15082720 12553433

    Selected Novoseek inferred chemical compound relationships for TTR gene (see all 118)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin a 84.1 646 19021760 (8), 9772136 (7), 10953676 (7), 16317126 (6) (see all 99)
    thyroxine 79.4 417 2393944 (6), 8039542 (5), 1979335 (4), 11468389 (3) (see all 99)
    stresson 74.4 1 12236086 (1)
    diflunisal 67.2 53 17107884 (7), 15080795 (6), 14711308 (2), 17028027 (2) (see all 12)
    4'-iodo-4'-deoxydoxorubicin 58.4 11 10998371 (4), 7708755 (1), 10854215 (1), 16266291 (1) (see all 5)
    valine 57.9 35 1544214 (2), 7914929 (1), 9840068 (1), 2002274 (1) (see all 23)
    pentabromophenol 55.6 5 10957627 (2)
    3,3'-diiodo-l-thyronine 55.6 1 1730601 (1)
    thioflavin t 51.5 5 11306576 (1), 14592420 (1), 8634341 (1), 18162431 (1)
    triiodothyronine 50.8 50 16879610 (3), 2109784 (2), 1700701 (1), 8156097 (1) (see all 22)



    Find genes that share compounds with TTR           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TTR gene: 
    NM_000371.3  

    Unigene Cluster for TTR:

    Transthyretin
    Hs.427202  [show with all ESTs]
    Unigene Representative Sequence: BE742013
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000237014(uc002kwx.4) ENST00000432547 ENST00000541025
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TTR
      QuantiFast Probe-based Assays in human, mouse, rat TTR

    Additional mRNA sequence: 

    AF162690.1 AK312051.1 BC005310.1 BC020791.1 BT007189.1 CR456908.1 D00096.1 DQ839490.1 
    GU727633.1 K02091.1 M10605.1 M11714.1 U19780.1 X59498.1 

    Selected DOTS entries (see all 28):

    DT.100045780  DT.100893448  DT.99949554  DT.100893449  DT.100893460  DT.100893447  DT.121106434  DT.92468651 
    DT.121106417  DT.320451  DT.100893450  DT.92468671  DT.100893452  DT.91775637  DT.95371616  DT.100664681 
    DT.100893459  DT.95371447  DT.100893453  DT.100893461  DT.121106401  DT.121106403  DT.121106410  DT.121106428 

    Selected AceView cDNA sequences (see all 2837):

    BM690371 CB068001 CA841884 BM314769 BU069250 CA776761 CA776958 BU069115 
    CA776256 BQ271550 BQ285928 AA365671 CA773831 BM663411 CA867318 T72125 
    CA946848 CB178713 CA868567 CA941077 CA843153 CA773911 BM503290 BU076165 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TTR    About this scheme

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


    ECgene alternative splicing isoforms for TTR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    TTR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAACCAAGAG
    TTR Expression
    About this image


    TTR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Choroid Plexus
             Encapsulated choroid plexus cells (NTCELL)
             CPEC
             Human Choroid Plexus Epithelial Cells (HCPEpiC)   
     
     Epithelial Cells
             Hepatic Endoderm Cells Ventral Foregut Endoderm
             CPEC
             Human Choroid Plexus Epithelial Cells (HCPEpiC)   
     
     Liver (Hepatobiliary System)    fully expand to see all 7 entries
             Hepatoblasts Liver Bud
             Liver Lobule
             Hepatocyte-like cells
     
     NULL (Uncategorized)    fully expand to see all 5 entries
             CPEC
             Human Choroid Plexus Fibroblasts (HCPF)   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    TTR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TTR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.427202

    UniProtKB/Swiss-Prot: TTHY_HUMAN, P02766
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TTR gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttr1 , 5 transthyretin1, 5 81.86(n)1
    81.63(a)1
      18 (11.47 cM)5
    221391  NM_013697.51  NP_038725.11 
     206652505 
    chicken
    (Gallus gallus)
    Aves TTR1 transthyretin 73.47(n)
    74.83(a)
      396277  NM_205335.2  NP_990666.1 
    lizard
    (Anolis carolinensis)
    Reptilia TTR6
    transthyretin
    63(a)
    1 ↔ 1
    GL343207.1(3774569-3780358)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3977872 transthyretin 71.16(n)    AB026996.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ttr1 transthyretin (prealbumin, amyloidosis type I) 58.6(n)
    53.23(a)
      449556  NM_001005598.2  NP_001005598.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG300166
    --
    25(a)
    1 ↔ 1
    2R(6762397-6762897)
    worm
    (Caenorhabditis elegans)
    Secernentea R09H10.36
    ZK697.86
    Protein ZK697.8 (ZK697.8) mRNA, complete cds
    28(a)
    25(a)
    many → 1
    many → 1
    IV(10606954-10608854) WBGene00011181
    V(1748432-1749153) WBGene00022808


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TTR gene
    2 SIMAP similar genes for TTR using alignment to 4 protein entries:     TTHY_HUMAN (see all proteins):
    HEL111    transthyretin/ TTR

    Find genes that share paralogs with TTR           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TTR (see all 354)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs115417901,2,,4
    HAmyloidosis, transthyretin-related (AMYL-TTR)4 --29165168(-) GGCAGG/AACTGC 2 /P /S mis16Minor allele frequency- A:0.00NS EA NA 410
    rs289339791,2,,4
    CAmyloidosis, transthyretin-related (AMYL-TTR)4 pathogenic129165186(+) TGGCCA/C/GTGCAT 3 M L V mis10--------
    rs115417961,2,,4
    CAmyloidosis, transthyretin-related (AMYL-TTR)4 pathogenic129165223(+) CTGGGA/GGCCAT 2 E G mis10--------
    VAR_0389714
    Amyloidosis, transthyretin-related (AMYL-TTR)4--see VAR_0389712 F S mis40--------
    VAR_0075594
    Amyloidosis, transthyretin-related (AMYL-TTR)4--see VAR_0075592 A D mis40--------
    VAR_0389644
    Amyloidosis, transthyretin-related (AMYL-TTR)4--see VAR_0389642 F V mis40--------
    VAR_0075984
    Carpal tunnel syndrome 1 (CTS1)4--see VAR_0075982 Y H mis40--------
    VAR_0075944
    Amyloidosis, transthyretin-related (AMYL-TTR)4--see VAR_0075942 L M mis40--------
    VAR_0075624
    Amyloidosis, transthyretin-related (AMYL-TTR)4--see VAR_0075622 G R mis40--------
    VAR_0075734
    Amyloidosis, transthyretin-related (AMYL-TTR)4--see VAR_0075732 T A mis40--------

    HapMap Linkage Disequilibrium report for TTR (29171689 - 29178987 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TTR:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833615CNV Gain17160897
    nsv909519CNV Gain21882294

    Human Gene Mutation Database (HGMD): TTR
    Locus Specific Mutation Databases (LSDB): TTR

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TTR
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 176300   
    OMIM disorders: 105210  145680  115430  
    UniProtKB/Swiss-Prot: TTHY_HUMAN, P02766
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) [MIM:145680]: A condition characterized by
    elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein
    abnormalities. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for TTR (see all 34):    
    About MalaCards
    hyperthyroxinemia    familial amyloid cardiomyopathy    familial transthyretin amyloidosis    hereditary amyloidosis
    hyperthyroxinemia dystransthyretinemic euthyroidal    polyneuropathy    carpal tunnel syndrome    atrophic glossitis
    transthyretin amyloidosis    senile systemic amyloidosis    familial oculoleptomeningeal amyloidosis    leptomeningeal amyloidosis
    carpal tunnel syndrome, familial    amyloid neuropathy    cocoon syndrome    finnish type amyloidosis
    familial amyloidosis, finnish type    hypervitaminosis a    amyloidosis    dysalbuminemic hyperthyroxinemia

    13 diseases from the University of Copenhagen DISEASES database for TTR:
    Polyneuropathy     Amyloidosis     protein-energy malnutrition     Carpal tunnel syndrome
    Hyperthyroxinemia     Neuropathy     Autonomic neuropathy     Kidney failure
    Liver disease     Alzheimer's disease     Cancer     Choroid plexus papilloma
    Diarrhea

    Find genes that share disorders with TTR           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TTR gene (see all 98)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial amyloid polyneuropathies 95.9 190 9922152 (2), 19279259 (2), 10506096 (2), 16751191 (2) (see all 99)
    amyloidosis 91.9 665 19075702 (8), 18537267 (6), 19664600 (5), 10827225 (5) (see all 99)
    amyloid neuropathies 91.5 40 10882995 (3), 20373457 (3), 11523162 (2), 8509786 (2) (see all 26)
    polyneuropathy 91.2 380 10919188 (3), 8089102 (2), 1932142 (2), 9818053 (2) (see all 99)
    amyloidosis systemic 90.7 149 7474944 (3), 2349941 (2), 2015890 (2), 11409037 (2) (see all 82)
    amyloidosis hereditary 90.6 38 1301926 (2), 9090525 (2), 12376880 (1), 8810738 (1) (see all 22)
    amyloidosis, leptomeningeal 86.9 13 20462362 (3), 18579156 (1), 16399646 (1), 16690499 (1) (see all 7)
    amyloidosis familial 86.7 35 8873510 (2), 10439117 (2), 1570831 (1), 8203468 (1) (see all 19)
    type i familial amyloid polyneuropathy 86.5 18 10506096 (2), 1858483 (1), 15116456 (1), 9988146 (1) (see all 12)
    amyloid deposition 85.4 73 9232027 (3), 19790249 (3), 10071047 (2), 18369743 (2) (see all 41)

    GeneTests: TTR
    GeneReviews: TTR
    Genetic Association Database (GAD): TTR
    Human Genome Epidemiology (HuGE) Navigator: TTR (23 documents)

    Export disorders for TTR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TTR gene, integrated from 10 sources (see all 1799):
    (articles sorted by number of sources associating them with TTR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new transthyretin mutation associated with amyloid cardiomyopathy. (PubMed id 1570831)1, 2, 4, 9 Saraiva M.J.M.... Goodman D.S. (Am. J. Hum. Genet. 1992)
    2. A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy. (PubMed id 1520326)1, 2, 4, 9 Murakami T.... Ando M. (Biochem. Biophys. Res. Commun. 1992)
    3. A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. (PubMed id 1362222)1, 2, 4, 9 Uemichi T.... Benson M.D. (J. Med. Genet. 1992)
    4. Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant. (PubMed id 8309582)1, 2, 3 Murakami T....Ando M. (Neurology 1994)
    5. Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. (PubMed id 1351039)1, 2, 4 Jacobson D.R.... Buxbaum J.N. (Hum. Genet. 1992)
    6. A novel transthyretin mutation associated with familial amyloidotic polyneuropathy. (PubMed id 1734866)1, 2, 4 Murakami T.... Araki S. (Biochem. Biophys. Res. Commun. 1992)
    7. Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis. (PubMed id 12876326)1, 2, 9 Lim A....Costello C.E. (Protein Sci. 2003)
    8. Amyloid fibril composition and transthyretin gene structure in senile systemic amyloidosis. (PubMed id 7474944)1, 2, 9 Gustavsson A....Westermark P. (Lab. Invest. 1995)
    9. Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. (PubMed id 8038017)1, 2, 9 Hesse A.... Maisch B. (Br. Heart J. 1993)
    10. The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP. (PubMed id 10052934)1, 2, 9 Naylor H.M. and Newcomer M.E. (Biochemistry 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7276 HGNC: 12405 AceView: TTR Ensembl:ENSG00000118271 euGenes: HUgn7276
    ECgene: TTR H-InvDB: TTR

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TTR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TTR[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Transthyretin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TTR gene:
    Search GeneIP for patents involving TTR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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