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TCAP

GENERAL INFORMATION

Gene name

 TCAP

Gene description

 Titin-cap

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (skeletal muscle, heart muscle)
GTEx:Group enriched (skeletal muscle, heart muscle)
FANTOM5:Group enriched (skeletal muscle, heart muscle)

Protein evidence

 Evidence at protein level

Protein expression

 Selective cytoplasmic expression in skeletal and heart muscle.

DATA RELIABILITY

Data reliability
description

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

Reliability score

 Supported based on 2 antibodies.
HPA026477 , CAB004591
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (skeletal muscle, heart muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (skeletal muscle, heart muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (skeletal muscle, heart muscle)

GENE INFORMATION

Gene name

 TCAP (HGNC Symbol)

Synonyms

 CMD1N, LGMD2G, T-cap, TELE, telethonin

Description

 Titin-cap (HGNC Symbol)

Entrez gene summary

 Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]

Chromosome

 17

Cytoband

 q12

Chromosome location (bp)

 39664187 - 39666555

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000173991 (version 83.38)

Entrez gene

 8557

UniProt

 O15273 (UniProt - Evidence at protein level)

neXtProt

 NX_O15273

Antibodypedia

 TCAP antibodies

PROTEIN BROWSER
TCAP-001
TCAP-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
TCAP-001
ENSP00000312624
ENST00000309889
O15273 [Direct mapping]
Telethonin
A2TDC0 [Target identity:100%; Query identity:100%]
Titin-cap (Telethonin); Titin-cap (Telethonin), isoform CRA_a; cDNA FLJ39009 fis, clone NT2RI2025565, highly similar to TELETHONIN
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001756 [somitogenesis]
GO:0003009 [skeletal muscle contraction]
GO:0003300 [cardiac muscle hypertrophy]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0006461 [protein complex assembly]
GO:0007512 [adult heart development]
GO:0008307 [structural constituent of muscle]
GO:0014898 [cardiac muscle hypertrophy in response to stress]
GO:0030018 [Z disc]
GO:0030049 [muscle filament sliding]
GO:0030240 [skeletal muscle thin filament assembly]
GO:0030241 [skeletal muscle myosin thick filament assembly]
GO:0030674 [protein binding, bridging]
GO:0030916 [otic vesicle formation]
GO:0031432 [titin binding]
GO:0031674 [I band]
GO:0035994 [response to muscle stretch]
GO:0035995 [detection of muscle stretch]
GO:0036122 [BMP binding]
GO:0044325 [ion channel binding]
GO:0045214 [sarcomere organization]
GO:0048739 [cardiac muscle fiber development]
GO:0048769 [sarcomerogenesis]
GO:0050982 [detection of mechanical stimulus]
GO:0051373 [FATZ binding]
GO:0055003 [cardiac myofibril assembly]
GO:0055008 [cardiac muscle tissue morphogenesis]
GO:0060048 [cardiac muscle contraction]
GO:0070080 [titin Z domain binding]
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 167 aa
19.1 kDa 		No 0
TCAP-002
ENSP00000462787
ENST00000578283
J3KT40 [Direct mapping]
Telethonin
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 143 aa
16.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.