PDLIM5
PDZ and LIM domain 5
Summary
This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Known Variants57 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1437327804 | 4:95,377,406 | G/A | — | likely benign |
| rs2433322 | 4:95,379,741 | A/T | — | — |
| rs2438146 | 4:95,395,388 | C/T | intron variant | — |
| rs3805301 | 4:95,412,692 | G/A | regulatory region variant | — |
| rs2639793 | 4:95,414,563 | A/T | — | — |
| rs761258621 | 4:95,444,881 | G/A | — | uncertain significance |
| rs750784983 | 4:95,444,887 | G/A | — | uncertain significance |
| rs781356907 | 4:95,444,920 | G/A | — | uncertain significance |
| rs751784330 | 4:95,445,001 | G/A | — | uncertain significance |
| rs78920201 | 4:95,470,677 | A/T | intron variant | — |
| rs898744312 | 4:95,494,521 | C/T | — | uncertain significance |
| rs2452009 | 4:95,495,908 | A/T | — | — |
| rs2531849249 | 4:95,496,844 | G/C | — | uncertain significance |
| rs752588919 | 4:95,496,864 | G/T | — | uncertain significance |
| rs1224238557 | 4:95,496,866 | C/A | — | uncertain significance |
| rs779412923 | 4:95,496,881 | T/G | — | uncertain significance |
| rs2452600 | 4:95,496,882 | C/T | intron variant | — |
| rs147707993 | 4:95,496,915 | C/T | — | uncertain significance |
| rs370647247 | 4:95,496,918 | C/G | — | uncertain significance |
| rs376940621 | 4:95,496,939 | C/T | — | uncertain significance |
| rs115743950 | 4:95,496,940 | G/A | — | benign |
| rs761636570 | 4:95,496,980 | G/A | — | uncertain significance |
| rs766001990 | 4:95,497,074 | C/A | — | uncertain significance |
| rs142259270 | 4:95,500,321 | T/C | intron variant | — |
| rs2172448 | 4:95,506,214 | G/A | intron variant | — |
| rs760588489 | 4:95,506,733 | T/C | — | uncertain significance |
| rs201891054 | 4:95,506,741 | C/T | — | uncertain significance |
| rs746577019 | 4:95,506,757 | A/G | — | uncertain significance |
| rs2531907955 | 4:95,506,772 | A/G | — | uncertain significance |
| rs113605096 | 4:95,506,820 | G/A | — | uncertain significance |
| rs1273061236 | 4:95,506,822 | C/A | — | uncertain significance |
| rs60063444 | 4:95,509,645 | C/T | intron variant | — |
| rs4634230 | 4:95,510,638 | G/A | regulatory region variant | — |
| rs12500426 | 4:95,514,609 | A/C | intron variant | — |
| rs66542996 | 4:95,521,086 | A/C | — | — |
| rs146000883 | 4:95,539,175 | C/T | — | uncertain significance |
| rs115018620 | 4:95,539,205 | G/A | — | uncertain significance |
| rs966845 | 4:95,539,267 | G/C | missense variant | — |
| rs7690296 | 4:95,561,459 | A/G | missense variant | — |
| rs866533087 | 4:95,561,545 | G/A | — | likely benign |
| rs1165577166 | 4:95,561,573 | A/T | — | uncertain significance |
| rs17021918 | 4:95,562,877 | C/T | regulatory region variant | — |
| rs951613 | 4:95,572,699 | C/T | intron variant | — |
| rs2532193652 | 4:95,575,649 | C/G | — | uncertain significance |
| rs145633341 | 4:95,575,661 | A/G | — | uncertain significance |
| rs2532193832 | 4:95,575,684 | A/G | — | uncertain significance |
| rs13107595 | 4:95,578,588 | G/C | missense variant | — |
| rs763438199 | 4:95,578,591 | C/T | — | uncertain significance |
| rs767864210 | 4:95,578,651 | G/A | — | uncertain significance |
| rs11097432 | 4:95,579,705 | T/C | intron variant | — |
| rs6532496 | 4:95,580,404 | C/T | intron variant | — |
| rs547605479 | 4:95,580,635 | A/G | — | — |
| rs114255444 | 4:95,583,584 | C/G | — | uncertain significance |
| rs763482542 | 4:95,583,596 | A/T | — | uncertain significance |
| rs114713699 | 4:95,583,657 | A/G | — | likely benign |
| rs1134984 | 4:95,586,405 | C/T | — | — |
| rs1048627 | 4:95,587,587 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.