RETNLB
Chr 3resistin like beta
Also known as: FIZZ1, FIZZ2, HXCP2, RELM-beta, RELMb, RELMbeta, XCP2
The protein functions as a hormone involved in epithelial cell proliferation and is active in the extracellular space. Mutations in this gene have not been established to cause any recognized Mendelian diseases in current medical literature. The gene shows low constraint against loss-of-function variants (pLI 0.04, LOEUF 1.74), suggesting tolerance to such mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
RETNLB · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools