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MARVELD2
Plays a role in the formation of tricellular tight junctions and of epithelial barriers. 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. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Membrane protein, integral; Membrane protein, multi-pass |
| Chromosomal Location of human Ortholog: 5q13.2 |
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Cellular Component:
apical plasma membrane; basolateral plasma membrane; bicellular tight junction; cell junction; cytoplasm; cytoplasmic vesicle; paranodal junction; Schmidt-Lanterman incisure; tight junction; tricellular tight junction
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Molecular Function:
protein binding
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Biological Process:
bicellular tight junction assembly; cell-cell junction organization; establishment of endothelial barrier; sensory perception of sound
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Disease: Deafness, Autosomal Recessive 49
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Reference #:
Q8N4S9
(UniProtKB)
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Alt. Names/Synonyms: DFNB49; FLJ30532; MALD2; MARVD2; MARVEL (membrane-associating) domain containing 2; MARVEL domain containing 2; MARVEL domain-containing protein 2; MARVELD2; MRVLDC2; TRIC; Tricellulin
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Gene Symbols: MARVELD2
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Molecular weight:
64,168 Da
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Basal Isoelectric point:
7.21
Predict pI for various phosphorylation states
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