CAPZB
capping actin protein of muscle Z-line subunit beta
Summary
This gene encodes the beta subunit of the barbed-end actin binding protein, which belongs to the F-actin capping protein family. The capping protein is a heterodimeric actin capping protein that blocks actin filament assembly and disassembly at the fast growing (barbed) filament ends and functions in regulating actin filament dynamics as well as in stabilizing actin filament lengths in muscle and nonmuscle cells. A pseudogene of this gene is located on the long arm of chromosome 2. Multiple alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, Aug 2013]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs368077867 | 1:19,669,284 | C/T | — | uncertain significance |
| rs1165807975 | 1:19,669,332 | T/C | — | uncertain significance |
| rs751764291 | 1:19,669,356 | G/C | — | uncertain significance |
| rs563145081 | 1:19,681,525 | C/T | — | — |
| rs373170769 | 1:19,683,225 | G/A | — | likely benign |
| rs532731972 | 1:19,683,226 | G/A | — | uncertain significance |
| rs750255932 | 1:19,683,927 | C/T | — | uncertain significance |
| rs214309 | 1:19,692,334 | G/C | — | — |
| rs214310 | 1:19,692,697 | T/C | intron variant | — |
| rs2522222672 | 1:19,705,043 | T/C | — | uncertain significance |
| rs7667 | 1:19,718,824 | G/A | intron variant | — |
| rs4912085 | 1:19,729,087 | G/C | intron variant | — |
| rs12403041 | 1:19,730,927 | A/G | intron variant | — |
| rs9287047 | 1:19,736,534 | T/C | regulatory region variant | — |
| rs147095059 | 1:19,746,151 | G/A | — | likely benign |
| rs12027702 | 1:19,747,103 | G/T | upstream gene variant | — |
| rs71512947 | 1:19,749,550 | C/G | — | — |
| rs4911992 | 1:19,750,486 | T/A | upstream gene variant | — |
| rs12045440 | 1:19,765,518 | T/G | intron variant | — |
| rs12407089 | 1:19,767,814 | G/C | intron variant | — |
| rs114458471 | 1:19,769,930 | T/A | intron variant | — |
| rs58952060 | 1:19,774,582 | G/A | intron variant | — |
| rs12409301 | 1:19,774,715 | G/A | intron variant | — |
| rs3913439 | 1:19,780,509 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.