CNN2 Chromosome 19
Calponin 2
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What This Gene Does
The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Several pseudogenes of this gene have been identified, and are present on chromosomes 1, 2, 3, 6, 9, 11, 13, 15, 16, 21 and 22. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
Calponin family
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000064666
Associated Conditions (1)
Pulmonary artery atresia
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS77830704 | Health Risk | Pathogenic | Pulmonary artery atresia, Pulmonary artery atresia |
| RS78386506 | Health Risk | Pathogenic | Pulmonary artery atresia, Pulmonary artery atresia |