MIP Chromosome 12
Major intrinsic protein of lens fiber
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What This Gene Does
Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aquaporins
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000135517
Associated Conditions (5)
Cataract 15 multiple types
Developmental cataract
Inborn genetic diseases
MIP-related disorder
Persistent hyperplastic primary vitreous
Key Variants
RS1044812718
Likely pathogenic
Health Risk
RS121917869
Likely pathogenic
Cataract 15 multiple types, Cataract 15 multiple types
Health Risk
RS1868687508
Likely pathogenic
Cataract 15 multiple types, Cataract 15 multiple types
Health Risk
RS2136164671
Likely pathogenic
Health Risk
RS2547312891
Likely pathogenic
Cataract 15 multiple types, Cataract 15 multiple types
Health Risk
RS2547313222
Likely pathogenic
Cataract 15 multiple types, Cataract 15 multiple types
Health Risk
RS1057519616
Pathogenic
Cataract 15 multiple types, Cataract 15 multiple types
Health Risk
RS1114167315
Pathogenic
Developmental cataract, Developmental cataract
Health Risk
RS121917867
Pathogenic
Cataract 15 multiple types, Cataract 15 multiple types
Health Risk
RS1220143491
Pathogenic
Cataract 15 multiple types, Inborn genetic diseases, Cataract 15 multiple types
Health Risk
RS1555179699
Pathogenic
Health Risk
RS1555179713
Pathogenic
Cataract 15 multiple types, Cataract 15 multiple types
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1044812718 | Health Risk | Likely pathogenic | — |
| RS121917869 | Health Risk | Likely pathogenic | Cataract 15 multiple types, Cataract 15 multiple types |
| RS1868687508 | Health Risk | Likely pathogenic | Cataract 15 multiple types, Cataract 15 multiple types |
| RS2136164671 | Health Risk | Likely pathogenic | — |
| RS2547312891 | Health Risk | Likely pathogenic | Cataract 15 multiple types, Cataract 15 multiple types |
| RS2547313222 | Health Risk | Likely pathogenic | Cataract 15 multiple types, Cataract 15 multiple types |
| RS1057519616 | Health Risk | Pathogenic | Cataract 15 multiple types, Cataract 15 multiple types |
| RS1114167315 | Health Risk | Pathogenic | Developmental cataract, Developmental cataract |
| RS121917867 | Health Risk | Pathogenic | Cataract 15 multiple types, Cataract 15 multiple types |
| RS1220143491 | Health Risk | Pathogenic | Cataract 15 multiple types, Inborn genetic diseases, Cataract 15 multiple types |
| RS1555179699 | Health Risk | Pathogenic | — |
| RS1555179713 | Health Risk | Pathogenic | Cataract 15 multiple types, Cataract 15 multiple types |
| RS2547312066 | Health Risk | Pathogenic | Cataract 15 multiple types, Cataract 15 multiple types |
| RS2547312090 | Health Risk | Pathogenic | Cataract 15 multiple types, Cataract 15 multiple types |
| RS2547312839 | Health Risk | Pathogenic | MIP-related disorder, MIP-related disorder |
| RS864309693 | Health Risk | Pathogenic | Developmental cataract, Cataract 15 multiple types, Persistent hyperplastic primary vitreous |
| RS864309696 | Health Risk | Pathogenic | Developmental cataract, Developmental cataract |
| RS398122378 | Health Risk | Pathogenic/Likely pathogenic | Cataract 15 multiple types, MIP-related disorder, Inborn genetic diseases |