GENETIC ENCYCLOPEDIA
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gene: TNNI2

id7136
symbolTNNI2
organismHomo sapiens
full nametroponin I2, fast skeletal type
summaryThis gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
variant-disease

NM_003282.4(TNNI2):c.276+30C>T AND not specified

NM_003282.4(TNNI2):c.57+17G>C AND not specified

NM_003282.4(TNNI2):c.15+140C>A AND not provided

NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln) AND not provided

NM_003282.4(TNNI2):c.54G>C (p.Leu18=) AND Arthrogryposis multiplex congenita

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