AlphaFold predicted structure
MARVELD2 · Q8N4S9
Mean pLDDT
66.5/ 100
Low
558 residues
Confidence breakdown
- Very high(≥ 90)28%
- Confident(70–90)23%
- Low(50–70)11%
- Very low(< 50)38%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MARVELD2
Chr 5q13.2MARVEL domain containing 2
- Aliases:
- FLJ30532, TRIC
- MANE:
- ENST00000325631.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalFamilial Meniere Disease
Unknown
Disease associations (Open Targets)
hearing loss, autosomal recessive
0.73deafness
0.57Rare genetic deafness
0.45Non-syndromic genetic deafness
0.39hearing loss disorder
0.37nonsyndromic genetic hearing loss
0.37Abnormality of the ear
0.35ear malformation
0.34Hearing impairment
0.33neurodegenerative disease
0.20
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
MARVEL domain-containing protein 2
Plays a role in the formation of tricellular tight junctions and of epithelial barriers (By similarity). Required for normal hearing via its role in the separation of the endolymphatic and perilymphatic spaces of the organ of Corti in the inner ear, and for normal survival of hair cells in the organ of Corti (PubMed:17186462)
Diseases associated with MARVELD2
Curated MONDO disease pages that list MARVELD2 among their top associated genes.