FRMPD2
FERM and PDZ domain containing 2
Summary
This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]
Known Variants91 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1308350025 | 10:49,365,385 | G/A | — | uncertain significance |
| rs77958433 | 10:49,371,043 | T/C | intron variant | — |
| rs782809409 | 10:49,371,383 | A/C | — | likely benign |
| rs1190537084 | 10:49,371,509 | G/A | — | uncertain significance |
| rs2493349224 | 10:49,371,585 | G/A | — | uncertain significance |
| rs1838006875 | 10:49,371,593 | C/A | — | uncertain significance |
| rs782490428 | 10:49,371,617 | C/T | — | uncertain significance |
| rs2493349524 | 10:49,371,651 | G/T | — | uncertain significance |
| rs201205821 | 10:49,371,664 | G/A | — | likely benign |
| rs1421564961 | 10:49,379,090 | C/T | — | uncertain significance |
| rs1164474634 | 10:49,379,111 | C/T | — | uncertain significance |
| rs1464055921 | 10:49,379,128 | G/A | — | uncertain significance |
| rs61840024 | 10:49,379,964 | T/C | — | — |
| rs376780885 | 10:49,381,012 | G/A | — | uncertain significance |
| rs782232511 | 10:49,382,962 | C/T | — | uncertain significance |
| rs1310527042 | 10:49,383,934 | T/G | — | uncertain significance |
| rs782484554 | 10:49,386,107 | G/T | — | uncertain significance |
| rs782540719 | 10:49,386,116 | C/A | — | uncertain significance |
| rs150581636 | 10:49,386,151 | G/A | — | benign |
| rs1391867444 | 10:49,386,179 | A/C | — | uncertain significance |
| rs200783524 | 10:49,386,184 | G/T | — | likely benign |
| rs1251260080 | 10:49,388,985 | T/C | — | uncertain significance |
| rs782402069 | 10:49,389,045 | C/T | — | uncertain significance |
| rs1403613525 | 10:49,392,653 | T/C | — | uncertain significance |
| rs745624663 | 10:49,392,662 | C/T | — | uncertain significance |
| rs144301899 | 10:49,392,715 | T/C | — | uncertain significance |
| rs146304737 | 10:49,392,852 | C/G | — | uncertain significance |
| rs774036463 | 10:49,392,886 | C/G | — | uncertain significance |
| rs529008159 | 10:49,392,912 | T/C | — | uncertain significance |
| rs373060544 | 10:49,393,631 | C/T | — | likely benign |
| rs768935262 | 10:49,393,632 | G/A | — | likely benign |
| rs141722516 | 10:49,393,643 | C/T | — | likely benign |
| rs200435407 | 10:49,393,649 | G/A | — | uncertain significance |
| rs114243389 | 10:49,395,237 | G/C | — | uncertain significance |
| rs74878516 | 10:49,400,746 | C/T | — | benign |
| rs973751233 | 10:49,400,758 | T/C | — | uncertain significance |
| rs2493436524 | 10:49,400,774 | G/T | — | uncertain significance |
| rs2493436985 | 10:49,400,872 | T/C | — | uncertain significance |
| rs750196972 | 10:49,400,901 | G/A | — | likely benign |
| rs966242782 | 10:49,400,910 | T/C | — | uncertain significance |
| rs542930622 | 10:49,406,110 | G/C | — | — |
| rs3906617 | 10:49,412,661 | C/T | intron variant | — |
| rs11101263 | 10:49,414,181 | C/T | intron variant | — |
| rs537706878 | 10:49,414,828 | C/T | — | uncertain significance |
| rs199766787 | 10:49,414,876 | C/T | — | uncertain significance |
| rs1426815774 | 10:49,414,916 | T/C | — | uncertain significance |
| rs1218072335 | 10:49,414,942 | A/T | — | uncertain significance |
| rs2493482393 | 10:49,414,970 | G/C | — | uncertain significance |
| rs368008665 | 10:49,420,077 | G/A | — | uncertain significance |
| rs777616214 | 10:49,420,106 | G/T | — | uncertain significance |
| rs145152474 | 10:49,420,126 | G/A | — | likely benign |
| rs1227121286 | 10:49,430,025 | A/G | — | — |
| rs759553598 | 10:49,430,369 | T/C | — | likely benign |
| rs2493539582 | 10:49,430,408 | A/G | — | uncertain significance |
| rs749697935 | 10:49,430,450 | T/C | — | uncertain significance |
| rs773094915 | 10:49,430,477 | T/A | — | uncertain significance |
| rs144515014 | 10:49,430,493 | G/T | — | uncertain significance |
| rs747020741 | 10:49,431,202 | C/T | — | uncertain significance |
| rs998797434 | 10:49,431,227 | T/C | — | uncertain significance |
| rs2493571261 | 10:49,440,175 | C/T | — | uncertain significance |
| rs776635470 | 10:49,440,181 | T/G | — | uncertain significance |
| rs1564433386 | 10:49,440,236 | C/A | — | uncertain significance |
| rs116143480 | 10:49,440,275 | C/T | — | likely benign |
| rs561957692 | 10:49,444,538 | G/A | — | uncertain significance |
| rs774455048 | 10:49,444,550 | G/A | — | uncertain significance |
| rs116392343 | 10:49,444,555 | C/T | — | likely benign |
| rs143502223 | 10:49,446,060 | T/G | — | likely benign |
| rs200082517 | 10:49,446,062 | T/C | — | uncertain significance |
| rs772386100 | 10:49,446,085 | G/T | — | uncertain significance |
| rs542714561 | 10:49,446,110 | C/T | — | uncertain significance |
| rs762835115 | 10:49,446,166 | G/T | — | likely benign |
| rs758923637 | 10:49,447,663 | C/T | — | uncertain significance |
| rs781183580 | 10:49,447,673 | T/C | — | uncertain significance |
| rs55802136 | 10:49,447,720 | G/A | — | likely benign |
| rs201865478 | 10:49,448,426 | G/A | — | likely benign |
| rs1226957209 | 10:49,448,429 | G/A | — | uncertain significance |
| rs1236531182 | 10:49,448,446 | C/G | — | uncertain significance |
| rs377718333 | 10:49,448,462 | C/T | — | likely benign |
| rs758756859 | 10:49,450,223 | A/G | — | uncertain significance |
| rs553927223 | 10:49,450,245 | T/G | — | uncertain significance |
| rs750001278 | 10:49,450,275 | A/T | — | uncertain significance |
| rs770784854 | 10:49,452,858 | C/A | — | uncertain significance |
| rs745865554 | 10:49,452,867 | G/T | — | uncertain significance |
| rs760353656 | 10:49,452,882 | T/C | — | uncertain significance |
| rs765793935 | 10:49,457,101 | T/C | — | uncertain significance |
| rs201555670 | 10:49,457,150 | G/C | — | uncertain significance |
| rs72792251 | 10:49,457,208 | A/G | — | likely benign |
| rs143330905 | 10:49,457,215 | G/A | — | uncertain significance |
| rs150223064 | 10:49,459,615 | G/A | — | uncertain significance |
| rs752675171 | 10:49,459,666 | C/T | — | uncertain significance |
| rs373129127 | 10:49,482,603 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.