MARVELD2 MARVEL domain containing 2

Gene ID: 153562, updated on 3-Apr-2024
Gene type: protein coding
Also known as: Tric; DFNB49; MARVD2; MRVLDC2

Summary

The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive nonsyndromic hearing loss 49 MedGen: C1857811OMIM: 610153GeneReviews: Genetic Hearing Loss Overview	See labs

Genomic context

Location:: 5q13.2

Sequence:: Chromosome: 5; NC_000005.10 (69415116..69444330)

Total number of exons:: 7

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for MARVELD2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MARVELD2 database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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