TCAP

Chr 17

titin-cap

Also known as: CMD1N, CMH25, LGMD2G, LGMDR7, T-cap, TELE, telethonin

NCBI Gene: 8557ENSG00000173991UniProt: O15273

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCardiomyopathy, familial hypertrophic, 25
UniProtMuscular dystrophy, limb-girdle, autosomal recessive 7

Clinical highlights

Gene-disease validity (ClinGen)
hypertrophic cardiomyopathy · ADDisputedevidence questions this relationship3 gene-disease associations curated in total
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
36
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.95
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — TCAP
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.189
Z-score 1.67
OE 0.30 (0.12–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.09Z-score
OE missense 0.98 (0.83–1.15)
102 obs / 104.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.30 (0.12–0.95)
0≤0.351.4
Missense OE?0.98 (0.83–1.15)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 2 / 6.6Missense obs/exp: 102 / 104.5Syn Z: -0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TCAP · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients