Aliases for TNNI2 Gene
External Ids for TNNI2 Gene
Previous HGNC Symbols for TNNI2 Gene
Previous GeneCards Identifiers for TNNI2 Gene
This 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]
GeneCards Summary for TNNI2 Gene
TNNI2 (Troponin I2, Fast Skeletal Type) is a Protein Coding gene. Diseases associated with TNNI2 include Arthrogryposis, Distal, Type 2B and Arthrogryposis Multiplex Congenita, Distal, Type 1. Among its related pathways are Activation of cAMP-Dependent PKA and Striated Muscle Contraction. GO annotations related to this gene include actin binding and troponin T binding. An important paralog of this gene is TNNI1.
UniProtKB/Swiss-Prot for TNNI2 Gene
Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.