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Ttn titin [ Mus musculus (house mouse) ]

Gene ID: 22138, updated on 7-Oct-2019

Summary

Official Symbol
Ttnprovided by MGI
Official Full Name
titinprovided by MGI
Primary source
MGI:MGI:98864
See related
Ensembl:ENSMUSG00000051747
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
L56; mdm; shru; AF006999; AV006427; 1100001C23Rik; 2310036G12Rik; 2310057K23Rik; 2310074I15Rik; D330041I19Rik; D830007G01Rik
Expression
Biased expression in heart adult (RPKM 23.7), mammary gland adult (RPKM 4.5) and 1 other tissue See more
Orthologs

Genomic context

See Ttn in Genome Data Viewer
Location:
2 C3; 2 45.13 cM
Exon count:
342
Annotation release Status Assembly Chr Location
108 current GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (76703980..76982557, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (76542041..76820604, complement)

Chromosome 2 - NC_000068.7Genomic Context describing neighboring genes Neighboring gene U7 small nuclear RNA Neighboring gene pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3 Neighboring gene predicted gene, 39860 Neighboring gene coiled-coil domain containing 141 Neighboring gene predicted gene, 39862 Neighboring gene predicted gene, 39861

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1) 
  • Targeted (11)  1 citation
  • Chemically induced (ENU) (3) 

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament binding ISO
Inferred from Sequence Orthology
more info
 
actinin binding ISO
Inferred from Sequence Orthology
more info
 
ankyrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcium ion binding ISO
Inferred from Sequence Orthology
more info
 
calmodulin binding ISO
Inferred from Sequence Orthology
more info
 
enzyme binding ISO
Inferred from Sequence Orthology
more info
 
identical protein binding ISO
Inferred from Sequence Orthology
more info
 
kinase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
muscle alpha-actinin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle alpha-actinin binding ISO
Inferred from Sequence Orthology
more info
 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
protease binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
protein kinase binding ISO
Inferred from Sequence Orthology
more info
 
protein self-association ISO
Inferred from Sequence Orthology
more info
 
protein serine/threonine kinase activity ISO
Inferred from Sequence Orthology
more info
 
protein tyrosine kinase activity ISO
Inferred from Sequence Orthology
more info
 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
structural constituent of muscle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural constituent of muscle ISO
Inferred from Sequence Orthology
more info
 
telethonin binding ISO
Inferred from Sequence Orthology
more info
 
transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
adult heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle contraction ISO
Inferred from Sequence Orthology
more info
 
cardiac muscle fiber development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac muscle fiber development ISO
Inferred from Sequence Orthology
more info
 
cardiac muscle hypertrophy ISO
Inferred from Sequence Orthology
more info
 
cardiac muscle tissue morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle tissue morphogenesis ISO
Inferred from Sequence Orthology
more info
 
cardiac myofibril assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac myofibril assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac myofibril assembly ISO
Inferred from Sequence Orthology
more info
 
detection of muscle stretch ISO
Inferred from Sequence Orthology
more info
 
forward locomotion IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart development IEP
Inferred from Expression Pattern
more info
PubMed 
heart growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
positive regulation of protein secretion ISO
Inferred from Sequence Orthology
more info
 
protein kinase A signaling ISO
Inferred from Sequence Orthology
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of catalytic activity ISO
Inferred from Sequence Orthology
more info
 
regulation of protein kinase activity ISO
Inferred from Sequence Orthology
more info
 
regulation of relaxation of cardiac muscle IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to calcium ion ISO
Inferred from Sequence Orthology
more info
 
sarcomere organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcomere organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
sarcomere organization ISO
Inferred from Sequence Orthology
more info
 
sarcomere organization TAS
Traceable Author Statement
more info
PubMed 
sarcomerogenesis ISO
Inferred from Sequence Orthology
more info
 
skeletal muscle myosin thick filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle myosin thick filament assembly ISO
Inferred from Sequence Orthology
more info
 
skeletal muscle thin filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle thin filament assembly ISO
Inferred from Sequence Orthology
more info
 
somitogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
striated muscle cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
striated muscle myosin thick filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ventricular system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
A band IDA
Inferred from Direct Assay
more info
PubMed 
I band IDA
Inferred from Direct Assay
more info
PubMed 
I band ISO
Inferred from Sequence Orthology
more info
 
M band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
M band IDA
Inferred from Direct Assay
more info
PubMed 
M band ISO
Inferred from Sequence Orthology
more info
 
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
Z disc ISO
Inferred from Sequence Orthology
more info
PubMed 
condensed nuclear chromosome ISO
Inferred from Sequence Orthology
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
muscle myosin complex TAS
Traceable Author Statement
more info
PubMed 
myofibril ISO
Inferred from Sequence Orthology
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
sarcomere IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcomere IDA
Inferred from Direct Assay
more info
PubMed 
striated muscle thin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
striated muscle thin filament ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
titin
Names
connectin
ttn
NP_035782.3
NP_082280.2
XP_011237740.1
XP_017172628.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_011652.3NP_035782.3  titin isoform N2-A

    Status: VALIDATED

    Description
    Transcript Variant: This variant (N2-A) represents the longer transcript and encodes the longer isoform (N2-A).
    Source sequence(s)
    AK029024, AK081896, AK084709, AK084780, AK085832, AK132562, AK139762, AK157782, AL928721, AL928789, BB532149, BG795347
    Consensus CDS
    CCDS38154.1
    UniProtKB/TrEMBL
    E9Q8N1, Q3TZL3, Q3UT48, Q8BUC9, Q8BUJ0, Q8BUJ6, Q8BUX4, Q8C139
    Related
    ENSMUSP00000107477.2, ENSMUST00000111846.8
    Conserved Domains (13) summary
    cd00096
    Location:48864954
    Ig; Immunoglobulin domain
    cd05747
    Location:3260132692
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:2004220115
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    smart00408
    Location:37573823
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:1554115625
    FN3; Fibronectin type 3 domain
    smart00220
    Location:3129431548
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:3058430663
    IG; Immunoglobulin
    smart00410
    Location:2732327405
    IG_like; Immunoglobulin like
    cd00063
    Location:2494525037
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:62656354
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:3129331569
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam00047
    Location:1251312579
    ig; Immunoglobulin domain
    cl11960
    Location:2368523758
    Ig; Immunoglobulin domain
  2. NM_028004.2NP_082280.2  titin isoform N2-B

    Status: VALIDATED

    Description
    Transcript Variant: This variant (N2-B) has multiple differences in the coding region compared to variant N2-A. The resulting isoform (N2-B) has the same N- and C-termini but is shorter compared to isoform N2-A.
    Source sequence(s)
    AK029024, AK081896, AK084709, AK084780, AK132562, AK157782, AL928721, AL928789, BB662000
    UniProtKB/TrEMBL
    Q3TZL3, Q8BUJ0, Q8BUJ6, Q8BUX4, Q8C139
    Related
    ENSMUSP00000011934.6, ENSMUST00000011934.12
    Conserved Domains (13) summary
    cd00096
    Location:2401224079
    Ig; Immunoglobulin domain
    cd05747
    Location:2602026111
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:1346113534
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    smart00408
    Location:913979
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:89609044
    FN3; Fibronectin type 3 domain
    smart00220
    Location:2471324967
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:2074220824
    IG; Immunoglobulin
    smart00410
    Location:2400324082
    IG_like; Immunoglobulin like
    cd00063
    Location:1836418456
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:2602426112
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:2471224988
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam00047
    Location:59325998
    ig; Immunoglobulin domain
    cl11960
    Location:1710417177
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000068.7 Reference GRCm38.p6 C57BL/6J

    Range
    76703980..76982557 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017317139.1XP_017172628.1  titin isoform X1

    Related
    ENSMUSP00000097561.3, ENSMUST00000099981.9
  2. XM_011239438.1XP_011237740.1  titin isoform X2

    Conserved Domains (13) summary
    cd00096
    Location:59315999
    Ig; Immunoglobulin domain
    cd05747
    Location:3344033531
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:2088120954
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    smart00408
    Location:47644830
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:1638016464
    FN3; Fibronectin type 3 domain
    smart00220
    Location:3213332387
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:3142331502
    IG; Immunoglobulin
    smart00410
    Location:2520225283
    IG_like; Immunoglobulin like
    cd00063
    Location:2578425876
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:73227411
    I-set; Immunoglobulin I-set domain
    cd14104
    Location:3213232408
    STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
    pfam00047
    Location:1335213418
    ig; Immunoglobulin domain
    cl11960
    Location:2452424597
    Ig; Immunoglobulin domain
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