Tcap
Gene Detail

Symbol Name ID

Tcap titin-cap MGI:1330233

Synonyms

Telethonin

Feature Type

protein coding gene

Genetic Map

Chromosome 11

61.75 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr11:98383811-98384953 bp, + strand From VEGA annotation of GRCm38   1143 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:2724  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Protein SuperFamily: telethonin
Gene Tree: Tcap

Human homologs

Human Homolog		TCAP, titin-cap
NCBI Gene ID		8557
neXtProt AC		NX_O15273
Human Synonyms		CMD1N, LGMD2G, T-cap, TELE, telethonin
Human Chr (Location)		17q12; chr17:37821599-37822807 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human TCAP

Alleles and phenotypes

All alleles(3) : Targeted(3)
 

Mice homozygous for a knock-out allele exhibit skeletal muscle atrophy, myopathy, increased muscle stiffness, and impaired coordination. Mice homozygous for another knock-out allele exhibit increased response to transverse aortic constriction.

 
Human Diseases Modeled Using Mouse Tcap (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (24 annotations)

Process	adult heart development, cardiac muscle contraction, ...
Component	cytoplasm, I band, ...
Function	FATZ binding, ion channel binding, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (8)    Tissues (6)    Images (3)
Theiler Stages: 15, 17

Assay Type	Results
RNA in situ	8

cDNA source data(45)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(45) cDNA(45)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000002713 (Evidence)
Ensembl Gene Model	ENSMUSG00000007877 (Evidence)
Entrez Gene	21393 (Evidence)
UniGene	10762
DFCI	TC1579649, TC1595851
DoTS	DT.101400890, DT.493307
NIA Mouse Gene Index	U013296
Consensus CDS Project	CCDS25346.1
International Mouse Knockout Project Status	Tcap

Sequences

Length	Strain/Species
genomic	OTTMUSG00000002713	VEGA Gene Model | MGI Sequence Detail	1143	C57BL/6J
transcript	OTTMUST00000005375	VEGA | MGI Sequence Detail	948	Not Applicable
polypeptide	OTTMUSP00000002542	VEGA | MGI Sequence Detail	167	Not Applicable

All sequences(23) RefSeq(2) UniProt(2)

Protein-related information

Resource	ID	Description
InterPro	IPR015667	Telethonin
InterPro	IPR023111	Titin-like domain
Protein Ontology	PR:000016156	telethonin

References

(Earliest) J:51067 Gregorio CC, et al., The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity. J Cell Biol. 1998 Nov 16;143(4):1013-27
(Latest) J:191122 Ibrahim M, et al., A critical role for Telethonin in regulating t-tubule structure and function in the mammalian heart. Hum Mol Genet. 2013 Jan 15;22(2):372-83
All references(35)

Other accession IDs

MGI:2144206, MGI:2144337