TAGLN
transgelin
Summary
This gene encodes a shape change and transformation sensitive actin-binding protein which belongs to the calponin family. It is ubiquitously expressed in vascular and visceral smooth muscle, and is an early marker of smooth muscle differentiation. The encoded protein is thought to be involved in calcium-independent smooth muscle contraction. It acts as a tumor suppressor, and the loss of its expression is an early event in cell transformation and the development of some tumors, coinciding with cellular plasticity. The encoded protein has a domain architecture consisting of an N-terminal calponin homology (CH) domain and a C-terminal calponin-like (CLIK) domain. Mice with a knockout of the orthologous gene are viable and fertile but their vascular smooth muscle cells exhibit alterations in the distribution of the actin filament and changes in cytoskeletal organization. [provided by RefSeq, Aug 2017]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7112573 | 11:117,069,023 | T/C | regulatory region variant | — |
| rs526602 | 11:117,070,691 | G/A | downstream gene variant | — |
| rs117279127 | 11:117,072,074 | C/T | regulatory region variant | — |
| rs488962 | 11:117,072,525 | C/T | regulatory region variant | — |
| rs746670728 | 11:117,073,799 | G/A | — | uncertain significance |
| rs149213147 | 11:117,073,907 | G/A | — | uncertain significance |
| rs145148872 | 11:117,074,050 | T/C | — | uncertain significance |
| rs36112166 | 11:117,074,071 | G/C | — | benign |
| rs180986151 | 11:117,074,085 | G/T | — | uncertain significance |
| rs148113093 | 11:117,074,101 | G/C | — | uncertain significance |
| rs2542772511 | 11:117,074,120 | A/G | — | uncertain significance |
| rs768819001 | 11:117,074,126 | C/T | — | uncertain significance |
| rs2542774813 | 11:117,074,563 | G/T | — | uncertain significance |
| rs771877408 | 11:117,074,564 | A/T | — | uncertain significance |
| rs7358337 | 11:117,074,604 | T/C | — | benign |
| rs143022570 | 11:117,075,003 | G/T | — | uncertain significance |
| rs199561158 | 11:117,075,008 | G/A | — | uncertain significance |
| rs12284316 | 11:117,075,014 | A/G | — | benign |
| rs755629432 | 11:117,075,019 | G/C | — | uncertain significance |
| rs2542776898 | 11:117,075,032 | C/A | — | uncertain significance |
| rs11547377 | 11:117,075,048 | C/T | — | benign |
| rs508487 | 11:117,075,566 | C/T | downstream gene variant | — |
| rs1242127 | 11:117,076,564 | A/G | — | — |
| rs35186251 | 11:117,076,708 | T/A | — | — |
| rs45574931 | 11:117,076,972 | C/A | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.