NCALD
neurocalcin delta
Summary
This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1336690615 | 8:102,701,584 | T/C | — | uncertain significance |
| rs1814793779 | 8:102,705,047 | G/C | — | uncertain significance |
| rs376548896 | 8:102,705,064 | T/C | — | uncertain significance |
| rs752795281 | 8:102,705,088 | G/C | — | uncertain significance |
| rs552323668 | 8:102,715,885 | T/C | — | — |
| rs7816613 | 8:102,729,475 | T/C | regulatory region variant | — |
| rs508386 | 8:102,899,450 | T/C | intron variant | — |
| rs517811 | 8:102,944,863 | G/C | — | — |
| rs16868803 | 8:102,972,720 | T/C | regulatory region variant | — |
| rs16868941 | 8:103,052,377 | G/A | intron variant | — |
| rs13253373 | 8:103,136,734 | T/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.