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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
  • Gene Overview
    MyGene.info: TTN
  • Alliance
  • Transcription Start Sites
    23 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:76703980-76982547 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 45.13 cM, cytoband D
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1686 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98864
protein coding gene Chr2:76703980-76982557 (-)
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
    8
  • Human Ortholog
    TTN, titin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMD1G, CMH9, CMPD4, EOMFC, HMERF, LGMD2J, LGMDR10, MYLK5, SALMY, TMD
  • Links
    NCBI Gene ID: 7273
    neXtProt AC: NX_Q8WZ42
    UniProt: Q8WZ42

  • Chr Location
    2q31.2; chr2:178525989-178807423 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    3 with Ttn mouse models; 4 with human TTN associations

Human Disease Mouse Models
      
IDs
View 3 models
IDs
View 1 model
IDs
View 1 model
      
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
    90 phenotypes from 11 alleles in 12 genetic backgrounds
    4 phenotypes from multigenic genotypes
    4 images
    40 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    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 106824 Not Applicable  
    polypeptide ENSMUSP00000097561 Ensembl | MGI Sequence Detail 35213 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 34
      Genomic 1
      cDNA 30
      Primer pair 2
      Other 1

      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 135
      Developmental Gene Expression 34
      Diseases 4
      Gene Ontology 21
      Phenotypes 40
    • Earliest
      J:10704 Buckle VJ, et al., Localisation of a dystrophin-related autosomal gene to 6q24 in man, and to mouse chromosome 10 in the region of the dystrophia muscularis (dy) locus. Hum Genet. 1990 Aug;85(3):324-6
    • Latest
      J:257342 Slater RE, et al., Effect of exercise on passive myocardial stiffness in mice with diastolic dysfunction. J Mol Cell Cardiol. 2017 Jul;108:24-33

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory