TCF21

Chr 6

transcription factor 21

Also known as: POD1, bHLHa23

NCBI Gene: 6943ENSG00000118526UniProt: O43680

TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
congenital heart disease · UDNo Known Disease Relationshipno established gene-disease relationship
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.Based on population constraint only.
1
Active trials
51
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.52
LOEUF
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.826
Z-score 2.22
OE 0.00 (0.00–0.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.78Z-score
OE missense 0.78 (0.65–0.94)
79 obs / 101.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.52)
0≤0.351.4
Missense OE?0.78 (0.65–0.94)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 0 / 5.8Missense obs/exp: 79 / 101.1Syn Z: 0.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TCF21 · protein map & ClinVar variants

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

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