HBEGF
Chr 5heparin binding EGF like growth factor
Also known as: DTR, DTS, DTSF, HEGFL
The protein functions as a growth factor that binds to and activates EGFR, ERBB2, and ERBB4 receptors, and is required for normal cardiac valve formation and heart function. Mutations cause increased susceptibility to diphtheria through a dominant-negative mechanism, as the protein also serves as the cellular receptor for diphtheria toxin. The condition follows an autosomal dominant inheritance pattern.
Primary Disease Associations & Inheritance
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HBEGF · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools