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Ttn Gene Detail
Summary
  • Symbol
    Ttn
  • Name
    titin
  • Synonyms
    1100001C23Rik, 2310036G12Rik, 2310057K23Rik, 2310074I15Rik, connectin, D330041I19Rik, D830007G01Rik, L56, mdm, shru
  • Feature Type
    protein coding gene
  • IDs
    MGI:98864
    NCBI Gene: 22138
  • Alliance
    gene page
  • Transcription Start Sites
    158 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:76534324-76812891 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 45.13 cM, cytoband D
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5019 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98864
 protein coding gene Chr2:76534324-76812901 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025870
 protein coding gene Chr2:77099785-77387174 (-)
A/J MGP_AJ_G0025847
 protein coding gene Chr2:74111047-74391790 (-)
AKR/J MGP_AKRJ_G0025816
 protein coding gene Chr2:76103942-76383749 (-)
BALB/cJ MGP_BALBcJ_G0025842
 protein coding gene Chr2:74285830-74562929 (-)
C3H/HeJ MGP_C3HHeJ_G0025602
 protein coding gene Chr2:76307996-76587768 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026289
 protein coding gene Chr2:79386141-79680593 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023692
 protein coding gene Chr2:71515058-71786505 (-)
CAST/EiJ MGP_CASTEiJ_G0025064
 protein coding gene Chr2:76645850-76928773 (-)
CBA/J MGP_CBAJ_G0025583
 protein coding gene Chr2:82321707-82616692 (-)
DBA/2J MGP_DBA2J_G0025714
 protein coding gene Chr2:73699584-73980430 (-)
FVB/NJ MGP_FVBNJ_G0025676
 protein coding gene Chr2:73096201-73368231 (-)
LP/J MGP_LPJ_G0025802
 protein coding gene Chr2:76982736-77284371 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025707
 protein coding gene Chr2:84142994-84436321 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026345
 protein coding gene Chr2:76229755-76509781 (-)
PWK/PhJ MGP_PWKPhJ_G0024807
 protein coding gene Chr2:73662891-73940480 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024613
 protein coding gene Chr2:76477569-76755170 (-)
WSB/EiJ MGP_WSBEiJ_G0025133
 protein coding gene Chr2:76696456-76978764 (-)



Homology
more
  • Human Ortholog
    TTN, titin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TTN, titin
  • Synonyms
    CMD1G, CMH9, CMPD4, CMYO5, CMYP5, EOMFC, HMERF, LGMD2J, LGMDR10, MYLK5, SALMY, TMD
  • Links
    NCBI Gene ID: 7273
    neXtProt AC: NX_Q8WZ42
    UniProt: Q8WZ42

  • Chr Location
    2q31.2; chr2:178525989-178830802 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Ttn mouse models; 7 with human TTN associations

Human Disease Mouse Models
      
IDs
 View 3 models
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    92 phenotypes from 12 alleles in 13 genetic backgrounds
    4 phenotypes from multigenic genotypes
    4 images
    76 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 mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age. A homozygous point mutation leads to reduced systolic function and mild ventricular dilation in the heart and increased cardiomyocyte size.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    93
  • GO References
    23
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
membraneless 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
    973
  • Tissues
    74
  • cDNA Data
    31
  • Literature Summary
    51
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000051747 Ensembl Gene Model | MGI Sequence Detail 278568 C57BL/6J ±  kb
    transcript ENSMUST00000099981 Ensembl | MGI Sequence Detail 107355 Not Applicable  
    polypeptide ENSMUSP00000097561 Ensembl | MGI Sequence Detail 35390 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 55
      Genomic 1
      cDNA 32
      Primer pair 18
      Other 4

      Microarray probesets 11
    Other
    Accession IDs
    less
    MGD-MRK-12167, MGD-MRK-15294, MGI:1354712, MGI:1914106, MGI:1917533, MGI:1919172, MGI:1924011, MGI:2139233, MGI:2159019, MGI:2442128, MGI:2443159, MGI:96950
    References
    more
    • Summaries
      All 196
      Developmental Gene Expression 51
      Diseases 4
      Gene Ontology 23
      Phenotypes 76
    • Earliest
      J:289359 Rober RA, et al., Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study. Development. 1989 Feb;105(2):365-78
    • Latest
      J:351018 Sun W, et al., The TTN p. Tyr4418Ter mutation causes cardiomyopathy in human and mice. PLoS One. 2024;19(2):e0296802
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory