CALB2
calbindin 2
Summary
This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2507302357 | 16:71,406,080 | A/G | — | uncertain significance |
| rs748994795 | 16:71,411,591 | G/C | — | uncertain significance |
| rs768640497 | 16:71,411,596 | G/C | — | uncertain significance |
| rs9935618 | 16:71,414,059 | G/C | — | — |
| rs4412976 | 16:71,414,439 | G/A | intron variant | — |
| rs1445908106 | 16:71,416,665 | C/T | — | uncertain significance |
| rs2507333547 | 16:71,417,282 | G/C | — | uncertain significance |
| rs781115969 | 16:71,417,289 | T/C | — | uncertain significance |
| rs138229238 | 16:71,417,307 | C/G | — | uncertain significance |
| rs1465701065 | 16:71,417,894 | G/A | — | uncertain significance |
| rs1297999637 | 16:71,418,256 | A/G | — | uncertain significance |
| rs371421393 | 16:71,418,258 | G/A | — | uncertain significance |
| rs760905092 | 16:71,418,687 | G/A | — | uncertain significance |
| rs2042560909 | 16:71,419,482 | T/C | — | likely benign |
| rs779846737 | 16:71,419,488 | C/T | — | likely benign |
| rs140474053 | 16:71,419,496 | T/C | — | uncertain significance |
| rs527882812 | 16:71,422,249 | A/G | — | — |
| rs757235338 | 16:71,423,691 | G/A | — | uncertain significance |
| rs1176651177 | 16:71,423,701 | T/C | — | uncertain significance |
| rs200190075 | 16:71,423,740 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.