TTN

GENERAL INFORMATION

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Gene name

TTN

Gene description

Titin

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

15
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enhanced (heart muscle, skeletal muscle)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression mainly in heart and skeletal muscle.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Data reliability

Supportive based on 2 antibodies.
HPA007042 , CAB022682
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (heart muscle, skeletal muscle)

Organ

Expression



GENE INFORMATION

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Gene name

TTN (HGNC Symbol)

Synonyms

CMD1G, CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD

Description

Titin (HGNC Symbol)

Entrez gene summary

This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]

Chromosome

2

Cytoband

q31.2

Chromosome location (bp)

178525989 - 178830802

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000155657 (version 78.38)

Entrez gene

7273

UniProt

Q8WZ42 (UniProt - Evidence at protein level)

neXtProt

NX_Q8WZ42

Antibodypedia

TTN antibodies


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