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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
  • Alliance
    gene page
  • Transcription Start Sites
    20 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:20798337-20807378 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 11.47 cM
  • Mapping Data
    26 experiments
Strain
Comparison
more
  • SNPs within 2kb
    362 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98865
 protein coding gene Chr18:20797266-20807383 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024181
 protein coding gene Chr18:18243981-18253057 (+)
A/J MGP_AJ_G0024145
 protein coding gene Chr18:17788710-17797784 (+)
AKR/J MGP_AKRJ_G0024114
 protein coding gene Chr18:18320326-18329400 (+)
BALB/cJ MGP_BALBcJ_G0024145
 protein coding gene Chr18:17800115-17809189 (+)
C3H/HeJ MGP_C3HHeJ_G0023913
 protein coding gene Chr18:18246735-18255809 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024588
 protein coding gene Chr18:19129603-19138675 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022030
 protein coding gene Chr18:16888434-16897347 (+)
CAST/EiJ MGP_CASTEiJ_G0023387
 protein coding gene Chr18:18037225-18046337 (+)
CBA/J MGP_CBAJ_G0023881
 protein coding gene Chr18:19603745-19612820 (+)
DBA/2J MGP_DBA2J_G0024013
 protein coding gene Chr18:17499678-17508751 (+)
FVB/NJ MGP_FVBNJ_G0023979
 protein coding gene Chr18:17277364-17286435 (+)
LP/J MGP_LPJ_G0024095
 protein coding gene Chr18:18387124-18396200 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024007
 protein coding gene Chr18:20522201-20531275 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024635
 protein coding gene Chr18:18070292-18079366 (+)
PWK/PhJ MGP_PWKPhJ_G0023132
 protein coding gene Chr18:17596275-17605595 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022941
 protein coding gene Chr18:18294005-18303077 (+)
WSB/EiJ MGP_WSBEiJ_G0023452
 protein coding gene Chr18:17999461-18008533 (+)



Homology
more
  • Human Ortholog
    TTR, transthyretin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TTR, transthyretin
  • Synonyms
    ATTR, CTS, CTS1, HEL111, HsT2651, PALB, TBPA, TTN
  • Links
    NCBI Gene ID: 7276
    neXtProt AC: NX_P02766
    UniProt: P02766

  • Chr Location
    18q12.1; chr18:31557009-31598833 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ttr mouse models; 5 with human TTR associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 6 alleles in 6 genetic backgrounds
    8 phenotypes from multigenic genotypes
    66 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.
Homozygous mutation of this gene results in decreased circulating thyroxine, triiodothyronine, and retinol levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    8
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1211
  • Tissues
    260
  • cDNA Data
    23
  • Literature Summary
    126
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000061808 Ensembl Gene Model | MGI Sequence Detail 9042 C57BL/6J ±  kb
    transcript ENSMUST00000075312 Ensembl | MGI Sequence Detail 1186 Not Applicable  
    polypeptide ENSMUSP00000074783 Ensembl | MGI Sequence Detail 147 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000016801 transthyretin
      (term hierarchy)
    • PDB
      2QPF
    • InterPro Domains
      IPR023419 Transthyretin, conserved site
      IPR000895 Transthyretin/hydroxyisourate hydrolase
      IPR023416 Transthyretin/hydroxyisourate hydrolase domain
      IPR036817 Transthyretin/hydroxyisourate hydrolase domain superfamily
      IPR023418 Transthyretin, thyroxine binding site
    • GlyGen
      P07309 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 61
      Genomic 11
      cDNA 28
      Primer pair 16
      Other 6

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-15296, MGI:2147169, MGI:2147263, MGI:2147418
    References
    more
    • Summaries
      All 260
      Developmental Gene Expression 126
      Diseases 3
      Gene Ontology 8
      Phenotypes 66
    • Earliest
      J:14652 Wakasugi S, et al., Structural comparisons between mouse and human prealbumin. J Biochem. 1985 Dec;98(6):1707-14
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/22/2024
    MGI 6.24     		The Jackson Laboratory