LDB2
LIM domain binding 2
Summary
The protein encoded by this gene belongs to the LIM-domain binding family. Members of this family are characterized by a conserved nuclear localization sequence, an amino-terminal homodimerization domain and a carboxy-terminal LIM interaction domain. These proteins function as adapter molecules to allow assembly of transcriptional regulatory complexes. Genetic association studies suggest functions for this gene in rhegmatogenous retinal detachment and coronary artery disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2474676906 | 4:16,504,382 | C/T | — | uncertain significance |
| rs768641233 | 4:16,504,387 | A/C | — | uncertain significance |
| rs2474677344 | 4:16,504,399 | G/T | — | uncertain significance |
| rs375403171 | 4:16,513,613 | C/A | — | uncertain significance |
| rs1179933323 | 4:16,513,721 | C/T | — | uncertain significance |
| rs955943 | 4:16,514,408 | C/T | downstream gene variant | — |
| rs16893618 | 4:16,547,144 | A/G | intron variant | — |
| rs777669362 | 4:16,590,394 | G/A | — | uncertain significance |
| rs1239693442 | 4:16,597,337 | T/C | — | uncertain significance |
| rs1004836816 | 4:16,597,444 | A/G | — | uncertain significance |
| rs2477150423 | 4:16,597,448 | C/A | — | likely benign |
| rs10939673 | 4:16,602,756 | C/T | intron variant | — |
| rs17490415 | 4:16,605,178 | C/T | intron variant | — |
| rs35508244 | 4:16,760,812 | T/C | — | benign |
| rs49969 | 4:16,831,812 | C/T | intron variant | — |
| rs1483012 | 4:16,893,893 | G/A | intron variant | — |
| rs140709141 | 4:16,900,036 | T/C | — | uncertain significance |
| rs1558206 | 4:16,901,761 | T/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.