InnateDB Protein
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IDBP-198922.6
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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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Mcoln3
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Protein Name
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mucolipin 3
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Synonyms
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000038801
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InnateDB Gene
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IDBG-198920 (Mcoln3)
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Protein Structure
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Function |
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Subcellular Localization |
Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
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Disease Associations |
Note=Defects in Mcoln3 are the cause of the varitin- waddler (Va) phenotype. Classical Va mice exhibit early-onset hearing loss, vestibular defects, pigmentation abnormalities and perinatal lethality. The phenotype varitin-waddler Jackcon (Va-J), which arose in a cross segregating for Va, is similar but less severe.
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Tissue Specificity |
Expressed in the cochlea; particularly in the inner and outer hair cells. {ECO:0000269PubMed:12403827}.
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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 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:1890500
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InterPro |
IPR013122
Polycystin cation channel, PKD1/PKD2
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PFAM |
PF08016
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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 |
Q8R4F0
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PhosphoSite |
PhosphoSite-Q8R4F0
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TrEMBL |
Q3KP78
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UniProt Splice Variant |
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Entrez Gene |
171166
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UniGene |
Mm.470253
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RefSeq |
NP_598921
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MGI ID |
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MGI Symbol |
Mcoln3
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OMIM |
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CCDS |
CCDS17900
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HPRD |
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IMGT |
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EMBL |
AC161212
AF475086
AK030819
AK033008
AK035029
AY083531
BC106856
CH466532
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GenPept |
AAI06857
AAL84623
AAM08924
BAC27146
BAC28123
BAC28916
EDL11983
EDL11984
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