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; chr2:179390716-179672150 (-)  GRCh37.p10
Disease Associations		(6) Diseases Associated with Human TTN

Alleles and phenotypes

All alleles(30) : Targeted(9) 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: (66 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: (22 records)
Data Summary: Results (132)    Tissues (16)    Images (27)
Theiler Stages: 17, 20, 23

Assay Type	Results
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 Model	OTTMUSG00000013134 (Evidence)
Ensembl Gene Model	ENSMUSG00000051747 (Evidence)
Entrez Gene	22138 (Evidence)
DFCI	TC1579676, TC1588107, TC1599570, TC1611035, TC1611356, TC1612390, TC1617288, TC1630469, TC1711394, TC1730269
DoTS	DT.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 Index	U001952
EC	2.7.11.1
Consensus CDS Project	CCDS38154.1
International Mouse Knockout Project Status	Ttn

Sequences

Length	Strain/Species
genomic	OTTMUSG00000013134	VEGA Gene Model | MGI Sequence Detail	278568	C57BL/6J
transcript	OTTMUST00000035892	VEGA | MGI Sequence Detail	106824	Not Applicable
polypeptide	OTTMUSP00000016107	VEGA | MGI Sequence Detail	35213	Not Applicable

All sequences(188) RefSeq(5) UniProt(32)

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

Resource	ID	Description
InterPro	IPR000219	Dbl homology (DH) domain
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	IPR022682	Peptidase C2, calpain, large subunit, domain III
InterPro	IPR004168	PPAK motif
InterPro	IPR000719	Protein kinase domain
InterPro	IPR011009	Protein kinase-like domain
InterPro	IPR012337	Ribonuclease H-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:194420 Hidalgo CG, et al., The multifunctional Ca(2+)/calmodulin-dependent protein kinase II delta (CaMKIIdelta) phosphorylates cardiac titin's spring elements. J Mol Cell Cardiol. 2013 Jan;54:90-7
All references(94)

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