Proteins/UNIPROT:Q8N4S9

MARVELD2

ProteinUNIPROT:Q8N4S9

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..

Function from UniProtKB (Q8N4S9), read 2026-09-23. CC BY 4.0.

Curated compounds routed: 0

What the reference databases state

GenCC submitters' classifications

3 rows

autosomal recessive nonsyndromic hearing loss 49 has a germline basis in MARVELD2DiseaseGenCC HGNC:26401|MONDO:0012420Inferred only
hearing loss, autosomal recessive has a germline basis in MARVELD2DiseaseGenCC HGNC:26401|MONDO:0019588Inferred only
nonsyndromic genetic hearing loss has a germline basis in MARVELD2DiseaseGenCC HGNC:26401|MONDO:0019497Inferred only

Statements

2 statements

2 statements · 1 reference database · Subject: MARVELD2 · Sources: Hetionet

Order

MARVELD2 covaries with CDHR5ProteinHetionet hetionet:covaries:153562-53841Inferred only
MARVELD2 covaries with RDM1ProteinHetionet hetionet:covaries:153562-201299Inferred only

Other names

3 names

Resolves to: MARVELD2

Also called: MARVEL domain-containing protein 2TRICTricellulin

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