MARVELD2
Chr 5ARMARVEL domain containing 2
Also known as: DFNB49, MARVD2, MRVLDC2, Tric
The protein forms tricellular tight junctions and epithelial barriers, particularly in the organ of Corti where it separates the endolymphatic and perilymphatic spaces and is required for hair cell survival. Mutations cause autosomal recessive deafness (DFNB49), typically presenting as congenital or early-onset hearing loss. The gene shows low constraint to loss-of-function variation (LOEUF 1.18), consistent with its autosomal recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MARVELD2 · 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