LIM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | LIM2 , CTRCT19, MP17, MP19, lens intrinsic membrane protein 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 154045 MGI: 104698 HomoloGene: 12744 GeneCards: LIM2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Lens fiber membrane intrinsic protein is a protein that in humans is encoded by the LIM2 gene. [5] [6]
The mammalian lens fiber cell membrane contains 5 major proteins ranging from 70 kD to 19 kD in size. The specific function of these proteins is unknown. Some of them have been shown to be involved in the formation of cataracts, e.g., crystalline-gamma-1 (CRYG1; MIM 123660). The second most abundant intrinsic membrane protein of the lens fiber cell is MP19, so named for major lens protein having a molecular weight of 19.5 kD.
This protein appears to contain 4 transmembrane domains, is a substrate for cAMP-dependent protein kinase and protein kinase C, and binds with calmodulin. Taken together, these suggest that MP19 functions in some way as a junctional component, possibly involved with lens cell communication. It has been shown to be involved with cataractogenesis.[supplied by OMIM] [6]
Gamma-crystallin D is a protein that in humans is encoded by the CRYGD gene.
Lens fiber major intrinsic protein also known as aquaporin-0 is a protein that in humans is encoded by the MIP gene.
Plasma membrane calcium-transporting ATPase 2 is an enzyme that in humans is encoded by the ATP2B2 gene.
Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene. Variants in CRYBB1 are associated with autosomal dominant congenital cataract.
Gamma-crystallin B is a protein that in humans is encoded by the CRYGB gene.
Beta-crystallin A3 is a protein that in humans is encoded by the CRYBA1 gene.
Gamma-crystallin S is a protein that in humans is encoded by the CRYGS gene.
Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene. It is also known as connexin 50.
Periaxin is a protein that in humans is encoded by the PRX gene.
Myelin protein zero-like protein 1 is a protein that in humans is encoded by the MPZL1 gene.
Collagen alpha-1(VIII) chain is a protein that in humans is encoded by the COL8A1 gene.
Trans-Golgi network integral membrane protein 2 is a protein that in humans is encoded by the TGOLN2 gene.
Type-1 angiotensin II receptor-associated protein is a protein that in humans is encoded by the AGTRAP gene.
Beta-crystallin A4 is a protein that in humans is encoded by the CRYBA4 gene.
Beta-crystallin B3 is a protein that in humans is encoded by the CRYBB3 gene.
Gamma-crystallin A is a protein that in humans is encoded by the CRYGA gene.
Mu-crystallin homolog also known as NADP-regulated thyroid-hormone-binding protein (THBP) is a protein that in humans is encoded by the CRYM gene. Multiple alternatively spliced transcript variants have been found for this gene.
Rho guanine nucleotide exchange factor 5 is a protein that in humans is encoded by the ARHGEF5 gene.
Uncharacterized protein KIAA1377 is a protein that in humans is encoded by the KIAA1377 gene. Also known as Cep126, the protein has been shown to localize to the centrosome. Furthermore, it is found at pericentriolar satellites and the base of the primary cilium. Depleting Cep126 leads to dispersion of pericentriolar satellites, in turn disrupting microtubule organization at the mitotic spindle.
Alpha-crystallin A chain is a protein that in humans is encoded by the CRYAA gene.