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Ttr Gene Detail
Summary
  • Symbol
    Ttr
  • Name
    transthyretin
  • Synonyms
    prealbumin
  • Feature Type
    protein coding gene
  • IDs
    MGI:98865
    NCBI Gene: 22139
  • Gene Overview
    MyGene.info: TTR
Location & Maps
more
  • Sequence Map
    Chr18:20665250-20674324 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      9075 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 11.47 cM
  • Mapping Data
    25 experiments
Homology
more
  • Human Ortholog
    TTR, transthyretin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TTR, transthyretin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CTS, CTS1, HEL111, HsT2651, PALB, TBPA
  • Links
    NCBI Gene ID: 7276
    neXtProt AC: NX_P02766

  • Chr Location
    18q12.1; chr18:31591767-31599024 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human TTR associations

Human Disease Mouse Models
       Amyloidosis, Hereditary, Transthyretin-Related   OMIM: 105210
Carpal Tunnel Syndrome; CTS1   OMIM: 115430
Hyperthyroxinemia, Dystransthyretinemic; DTTRH   OMIM: 145680
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 2 alleles in 3 genetic backgrounds
    4 phenotypes from multigenic genotypes
    49 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    22
  • Gene trapped
    5
  • Targeted
    12
  • Transgenic
    5
  • Incidental Mutations
Homozygous mutation of this gene results in decreased circulating thyroxine, triiodothyronine, and retinol levels.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000061808 Ensembl Gene Model | MGI Sequence Detail 9075 C57BL/6J ±  kb
transcript ENSMUST00000075312 Ensembl | MGI Sequence Detail 1219 Not Applicable  
polypeptide ENSMUSP00000074783 Ensembl | MGI Sequence Detail 147 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    132 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000016801 transthyretin
  • PDB
  • InterPro Domains
    IPR030178 Transthyretin
    IPR023419 Transthyretin, conserved site
    IPR000895 Transthyretin/hydroxyisourate hydrolase
    IPR023416 Transthyretin/hydroxyisourate hydrolase, superfamily
    IPR023418 Transthyretin, thyroxine binding site
Molecular
Reagents
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  • All nucleic 49
    Genomic 11
    cDNA 26
    Primer pair 8
    Other 4

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-15296, MGI:2147169, MGI:2147263, MGI:2147418
References
more
  • Summaries
    All 184
    Developmental Gene Expression 87
    Gene Ontology 6
    Phenotypes 49
  • Earliest
    J:14652 Wakasugi S, et al., Structural comparisons between mouse and human prealbumin. J Biochem. 1985 Dec;98(6):1707-14
  • Latest
    J:232481 Caronia-Brown G, et al., Expression and functional analysis of the Wnt/beta-catenin induced mir-135a-2 locus in embryonic forebrain development. Neural Dev. 2016;11:9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory