Seroatlas · Human Serome Atlas

TCAP

Telethonin

Also known as: CMD1N, LGMD2G, T-cap, TELE, telethonin, TELT_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O15273
Gene: TCAP
Ensembl: ENSG00000173991
Chromosome: 17
Canonical length: 167 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

167 residues, UniProt reviewed canonical sequence.

>O15273|TCAP
     1  MATSELSCEV SEENCERREA FWAEWKDLTL STRPEEGCSL HEEDTQRHET YHQQGQCQVL
    61  VQRSPWLMMR MGILGRGLQE YQLPYQRVLP LPIFTPAKMG ATKEEREDTP IQLQELLALE
   121  TALGGQCVDR QEVAEITKQL PPVVPVSKPG ALRRSLSRSM SQEAQRG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TCAP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.54
Highest tissue expression: 14,837 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 14,837 nTPM
heart muscle: 6,422 nTPM
tongue: 5,444 nTPM
esophagus: 178 nTPM
salivary gland: 163 nTPM
prostate: 100 nTPM

Single-cell type

thymic myoid cells: 2,593 nCPM
myonuclei: 349 nCPM
cardiomyocytes: 119 nCPM
epicardial cells: 68 nCPM
myosatellite cells: 68 nCPM
fibro-adipogenic progenitors: 30 nCPM

Immune cell

naive CD8 T-cell: 0.5 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

basal ganglia: 13 nTPM
midbrain: 9.1 nTPM
thalamus: 8.5 nTPM
cerebellum: 7.7 nTPM
medulla oblongata: 6.8 nTPM
pons: 6.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TCAP.

Disease | AllUniProt

Conditions TCAP is implicated in, by any mechanism.

Cardiomyopathy, familial hypertrophic, 25 (CMH25) MIM:607487
Muscular dystrophy, limb-girdle, autosomal recessive 7 (LGMDR7) MIM:601954

Disease | GeneticClinVar

35 pathogenic / likely-pathogenic of 386 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hypertrophic cardiomyopathy 25
Primary familial hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2G
Cardiovascular phenotype
Abnormality of the musculature

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.95
gnomAD pLI: 0.19
gnomAD missense Z: 0.09
DepMap mean gene effect: -0.12
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Telethonin
Titin-like domain superfamily
Telethonin protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TCAP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TCAP as an antibody target. Whether an autoantibody or antibody against TCAP could matter depends on whether native TCAP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TCAP is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TCAP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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