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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
Location & Maps
more
  • Sequence Map
    Chr2:76703980-76982547 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      278568 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    TTN, titin
  • Vertebrate Orthologs
    8
  • Human Ortholog
    TTN, titin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CMD1G, CMH9, CMPD4, EOMFC, HMERF, LGMD2J, MYLK5, TMD
  • Links
    NCBI Gene ID: 7273
    neXtProt AC: NX_Q8WZ42

  • Chr Location
    2q31; chr2:178525989-178830754 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Ttn mouse models; 6 with human TTN associations

Human Disease Mouse Models
       Cardiomyopathy, Dilated, 1G; CMD1G   OMIM: 604145 View 1 model
Muscular Dystrophy, Limb-Girdle, Type 2J; LGMD2J   OMIM: 608807 View 3 models
Tibial Muscular Dystrophy, Tardive   OMIM: 600334 View 1 model
       Cardiomyopathy, Familial Hypertrophic, 9; CMH9   OMIM: 613765
Hereditary Myopathy with Early Respiratory Failure; HMERF   OMIM: 603689
Myopathy, Early-Onset, with Fatal Cardiomyopathy   OMIM: 611705
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    89 phenotypes from 10 alleles in 12 genetic backgrounds
    4 phenotypes from multigenic genotypes
    4 images
    34 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    35
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    19
  • Spontaneous
    1
  • Targeted
    13
  • Genomic Mutations
    3 involving Ttn
  • Incidental Mutations
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
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 OTTMUSG00000013134 VEGA Gene Model | MGI Sequence Detail 278568 C57BL/6J ±  kb
transcript OTTMUST00000035892 VEGA | MGI Sequence Detail 106824 Not Applicable  
polypeptide OTTMUSP00000016107 VEGA | MGI Sequence Detail 35213 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1686 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 32
    Genomic 1
    cDNA 28
    Primer pair 2
    Other 1

    Microarray probesets 11
Other
Accession IDs
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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 105
    Developmental Gene Expression 28
    Diseases 5
    Gene Ontology 15
    Phenotypes 34
  • Earliest
    J:14016 Lane PW, Muscular dystrophy with myositis (mdm). Mouse News Lett. 1985;73:18
  • Latest
    J:223343 Charton K, et al., CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. Hum Mol Genet. 2015 Jul 1;24(13):3718-31

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
05/17/2016
MGI 6.03
The Jackson Laboratory