InnateDB Protein
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IDBP-370252.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MARVELD2
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Protein Name
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MARVEL domain containing 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000396244
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InnateDB Gene
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IDBG-26092 (MARVELD2)
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Protein Structure
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Function |
Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing. {ECO:0000269PubMed:17186462}.
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Subcellular Localization |
Cell membrane; Multi-pass membrane protein. Cell junction, tight junction {ECO:0000250}. Note=Found at tricellular contacts. {ECO:0000250}.
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Disease Associations |
Deafness, autosomal recessive, 49 (DFNB49) [MIM:610153]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:17186462}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
1
[view]
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008253
Marvel domain
IPR010844
Occludin/RNA polymerase II elongation factor, ELL domain
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PFAM |
PF01284
PF07303
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8N4S9
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PhosphoSite |
PhosphoSite-Q8N4S9
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TrEMBL |
D6RAH8
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UniProt Splice Variant |
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Entrez Gene |
153562
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UniGene |
Hs.726520
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RefSeq |
NP_001231663
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HUGO |
HGNC:26401
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OMIM |
610572
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CCDS |
CCDS58956
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HPRD |
11293
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IMGT |
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EMBL |
AB219936
AB219937
AC145146
AK055094
AK292962
BC033689
CH471137
DQ682656
DQ682657
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GenPept |
AAH33689
ABG89104
ABG89105
BAB70853
BAE54513
BAE54514
BAF85651
EAW51277
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