MARVELD2
Sign in to saveAlso known as DFNB49, MARVD2, MRVLDC2, Tric, MARVEL domain containing 2
MARVEL domain-containing protein 2 is a protein that in humans is encoded by the MARVELD2 gene.
Gene data
MARVELD2- Name
- MARVEL domain containing 2
- Type
- protein-coding
- Position
- 69,415,065–69,444,330 (+)
- Aliases
- DFNB49, MARVD2, MRVLDC2, Tric
- Ensembl
- ENSG00000152939
- RefSeq RNA
- NM_001038603.3, NM_001244734.2, NM_001445600.1, NM_001445601.1, NM_001445602.1
- RefSeq protein
- NP_001033692.2, NP_001231663.1, NP_001432529.1, NP_001432530.1, NP_001432531.1
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].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
MARVEL domain containing 2
- Symbol
- MARVELD2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr HSCHR5_2_CTG1_1:198,535-227,323
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 27037
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/153562
- chromosome
- human chromosome 5
- genomic start
- 69415065
- genomic end
- 68740157
- cytogenetic location
- 5q13.2
- genetic association
- nonsyndromic deafness
Sources (6)
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
MARVEL domain-containing protein 2 is a protein that in humans is encoded by the MARVELD2 gene.
==References==
Excerpted from Wikipedia’s “MARVELD2” article, available under the CC BY-SA 4.0 licence.