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Ttn
Gene Detail
 Symbol
Name
ID
Ttn
titin
MGI:98864
Synonyms 1100001C23Rik, 2310036G12Rik, 2310057K23Rik, 2310074I15Rik, connectin, D330041I19Rik, D830007G01Rik, L56, mdm, shru
Feature Type protein coding gene
Genetic Map
Chromosome 2
45.13 cM, cytoband D
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
Chr2:76703980-76982547 bp, - strand
From VEGA annotation of GRCm38

  278568 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:130650  Vertebrate Homology Class
1 human; 1 mouse; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ttn

Human
homologs
Human Homolog TTN, titin
NCBI Gene ID 7273
neXtProt AC  NX_Q8WZ42
Human Synonyms  CMD1G, CMH9, CMPD4, EOMFC, HMERF, LGMD2J, MYLK5, TMD
Human Chr (Location)  2q31; chr2:178525989-178807423 (-)  GRCh38
Disease Associations  (6) Diseases Associated with Human TTN
Alleles
and
phenotypes
All alleles(31) : Targeted(10) Gene trapped(19) Spontaneous(1) Chemically induced(1)
 
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.
 
Human Diseases Modeled Using Mouse Ttn (3)    Alleles Annotated to Human Diseases(4)    Phenotype Images(4)
Gene Ontology
(GO)
classifications
All GO classifications: (54 annotations)
Process adult heart development, cardiac muscle contraction, ...
Component A band, condensed nuclear chromosome, ...
Function actin filament binding, actinin binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (24 records)
Data Summary: Results (132)    Tissues (16)    Images (27)
Theiler Stages: 17, 20, 23
Assay TypeResults
Immunohistochemistry 2
RNA in situ 128
RT-PCR 2
cDNA source data(26)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(31) Genomic(1) cDNA(27) Primer pair(2) Other(1)
Microarray probesets(11)
Other database
links
VEGA Gene ModelOTTMUSG00000013134 (Evidence)
Ensembl Gene ModelENSMUSG00000051747 (Evidence)
Entrez Gene22138 (Evidence)
DFCITC1579676, TC1588107, TC1599570, TC1611035, TC1611356, TC1612390, TC1617288, TC1630469, TC1711394, TC1730269
DoTSDT.101203928, DT.101342717, DT.101723976, DT.103576521, DT.110657087, DT.110714965, DT.40148312, DT.40152536, DT.40162390, DT.493012, DT.91355343, DT.91577810, DT.91580627, DT.94153200, DT.94167729, DT.94210793, DT.94360135
NIA Mouse Gene IndexU001952
Consensus CDS ProjectCCDS38154.1
International Mouse Knockout Project StatusTtn
Sequences
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 sequences
All sequences(191) RefSeq(9) UniProt(31)
Polymorphisms All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs within 2kb(1688 from dbSNP Build 137)    SNPs within 2kb including multiple locations(1692)
Protein-related
information
ResourceIDDescription
InterPro IPR003961 Fibronectin, type III
InterPro IPR013098 Immunoglobulin I-set
InterPro IPR007110 Immunoglobulin-like domain
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR003599 Immunoglobulin subtype
InterPro IPR003598 Immunoglobulin subtype 2
InterPro IPR004168 PPAK motif
InterPro IPR000719 Protein kinase, catalytic domain
InterPro IPR011009 Protein kinase-like domain
InterPro IPR002290 Serine/threonine- / dual specificity protein kinase, catalytic domain
InterPro IPR015129 Titin Z
InterPro IPR008266 Tyrosine-protein kinase, active site
Protein Ontology PR:000016798 titin
References (Earliest) J:14016 Lane PW, Muscular dystrophy with myositis (mdm). Mouse News Lett. 1985;73:18
(Latest) J:206713 Buck D, et al., Removal of immunoglobulin-like domains from titin's spring segment alters titin splicing in mouse skeletal muscle and causes myopathy. J Gen Physiol. 2014 Feb;143(2):215-30
All references(99)
Other
accession IDs
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

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
04/08/2014
MGI 5.17
The Jackson Laboratory