SEMA4A
semaphorin 4A
Summary
This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
Known Variants511 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs75927380 | 1:156,123,310 | C/T | — | uncertain significance |
| rs113436119 | 1:156,123,420 | G/A | — | uncertain significance |
| rs753268297 | 1:156,123,521 | A/G | — | uncertain significance |
| rs1652826874 | 1:156,124,371 | T/A | — | uncertain significance |
| rs147362942 | 1:156,124,380 | C/T | — | uncertain significance |
| rs920318823 | 1:156,124,383 | C/G | — | uncertain significance |
| rs145133730 | 1:156,124,389 | G/A | — | conflicting classifications of pathogenicity |
| rs2102932737 | 1:156,124,403 | A/T | — | uncertain significance |
| rs568959821 | 1:156,124,407 | T/C | — | uncertain significance |
| rs2528101773 | 1:156,124,412 | G/T | — | uncertain significance |
| rs754087890 | 1:156,124,414 | C/T | — | likely benign |
| rs944635627 | 1:156,124,430 | C/T | — | likely benign |
| rs1460349354 | 1:156,124,445 | C/A | — | uncertain significance |
| rs779154677 | 1:156,124,446 | T/C | — | uncertain significance |
| rs750729394 | 1:156,124,448 | C/T | — | uncertain significance |
| rs758898526 | 1:156,124,449 | C/T | — | uncertain significance |
| rs777184442 | 1:156,124,450 | G/A | — | likely benign |
| rs369653609 | 1:156,124,452 | C/T | — | uncertain significance |
| rs149711133 | 1:156,124,453 | G/A | — | conflicting classifications of pathogenicity |
| rs1045906206 | 1:156,124,455 | C/T | — | uncertain significance |
| rs1338015511 | 1:156,124,456 | G/A | — | likely benign |
| rs1217777303 | 1:156,124,458 | C/A | — | uncertain significance |
| rs373565051 | 1:156,124,459 | C/T | — | conflicting classifications of pathogenicity |
| rs1463721231 | 1:156,124,460 | G/A | — | uncertain significance |
| rs893869203 | 1:156,124,461 | C/T | — | uncertain significance |
| rs769429823 | 1:156,124,462 | G/T | — | likely benign |
| rs553165474 | 1:156,124,463 | G/T | — | uncertain significance |
| rs577740555 | 1:156,124,464 | G/T | — | conflicting classifications of pathogenicity |
| rs764178085 | 1:156,124,465 | G/A | — | likely benign |
| rs753853752 | 1:156,124,466 | G/A | — | conflicting classifications of pathogenicity |
| rs761940603 | 1:156,124,467 | G/A | — | uncertain significance |
| rs765496404 | 1:156,124,468 | A/G | — | likely benign |
| rs758770372 | 1:156,124,471 | C/T | — | likely benign |
| rs370407549 | 1:156,124,472 | G/A | — | uncertain significance |
| rs1325125549 | 1:156,124,475 | C/A | — | uncertain significance |
| rs755494812 | 1:156,124,484 | A/G | — | uncertain significance |
| rs141177664 | 1:156,124,485 | T/A | — | conflicting classifications of pathogenicity |
| rs2528103666 | 1:156,124,489 | C/T | — | likely benign |
| rs1641788827 | 1:156,124,496 | A/G | — | uncertain significance |
| rs767886618 | 1:156,124,503 | A/G | — | uncertain significance |
| rs1391705146 | 1:156,124,510 | T/C | — | uncertain significance |
| rs1652855936 | 1:156,124,513 | G/T | — | uncertain significance |
| rs200265374 | 1:156,124,518 | C/T | — | likely benign |
| rs773476159 | 1:156,124,519 | G/A | — | likely benign |
| rs776754785 | 1:156,124,521 | C/T | — | likely benign |
| rs367926176 | 1:156,126,187 | G/A | — | likely benign |
| rs1465091913 | 1:156,126,188 | T/A | — | likely benign |
| rs2528118883 | 1:156,126,207 | G/A | — | uncertain significance |
| rs141456930 | 1:156,126,214 | G/T | — | uncertain significance |
| rs772060056 | 1:156,126,216 | A/T | — | uncertain significance |
| rs1653035442 | 1:156,126,218 | G/A | — | likely benign |
| rs775387881 | 1:156,126,224 | T/C | — | likely benign |
| rs2102939939 | 1:156,126,228 | T/G | — | uncertain significance |
| rs1653038390 | 1:156,126,250 | A/G | — | uncertain significance |
| rs769950018 | 1:156,126,252 | G/A | — | uncertain significance |
| rs773118228 | 1:156,126,261 | A/C | — | uncertain significance |
| rs1331496563 | 1:156,126,265 | T/A | — | uncertain significance |
| rs766643468 | 1:156,126,273 | A/G | — | uncertain significance |
| rs774922987 | 1:156,126,277 | G/A | — | uncertain significance |
| rs768178231 | 1:156,126,289 | C/G | — | conflicting classifications of pathogenicity |
| rs1653044281 | 1:156,126,291 | C/T | — | uncertain significance |
| rs756527536 | 1:156,126,296 | C/T | — | likely benign |
| rs763670204 | 1:156,126,297 | G/A | — | conflicting classifications of pathogenicity |
| rs753217222 | 1:156,126,299 | G/T | — | likely benign |
| rs1458651405 | 1:156,126,303 | G/C | — | uncertain significance |
| rs745715951 | 1:156,126,306 | C/T | — | uncertain significance |
| rs758162515 | 1:156,126,307 | G/A | — | uncertain significance |
| rs746991043 | 1:156,126,312 | G/C | — | uncertain significance |
| rs768422312 | 1:156,126,321 | G/A | — | uncertain significance |
| rs750424205 | 1:156,126,323 | C/T | — | likely benign |
| rs2528120633 | 1:156,126,326 | G/A | — | likely benign |
| rs2528120669 | 1:156,126,330 | A/G | — | uncertain significance |
| rs749325634 | 1:156,126,335 | G/A | — | likely benign |
| rs1278430637 | 1:156,126,339 | C/T | — | uncertain significance |
| rs774683776 | 1:156,126,348 | C/G | — | uncertain significance |
| rs759790628 | 1:156,126,352 | G/A | — | uncertain significance |
| rs776196447 | 1:156,126,356 | A/C | — | likely benign |
| rs372014873 | 1:156,126,362 | C/T | — | likely benign |
| rs2528121206 | 1:156,126,366 | G/T | — | uncertain significance |
| rs2528121301 | 1:156,126,373 | G/T | — | likely benign |
| rs764500462 | 1:156,126,380 | G/T | — | uncertain significance |
| rs753442457 | 1:156,126,381 | A/G | — | likely benign |
| rs2102940659 | 1:156,126,385 | A/T | — | likely benign |
| rs115874939 | 1:156,126,414 | C/T | — | likely benign |
| rs116375300 | 1:156,127,837 | G/A | — | benign |
| rs760930160 | 1:156,127,844 | C/T | — | likely benign |
| rs769251682 | 1:156,127,847 | C/T | — | likely benign |
| rs1572393242 | 1:156,127,848 | T/G | — | uncertain significance |
| rs776976513 | 1:156,127,849 | C/T | — | likely benign |
| rs764751896 | 1:156,127,852 | C/T | — | likely benign |
| rs149652495 | 1:156,127,862 | T/C | — | conflicting classifications of pathogenicity |
| rs2528133695 | 1:156,127,864 | C/T | — | uncertain significance |
| rs143382589 | 1:156,127,865 | C/G | — | uncertain significance |
| rs751429275 | 1:156,127,866 | G/A | — | likely benign |
| rs2528133836 | 1:156,127,871 | C/T | — | uncertain significance |
| rs2528133847 | 1:156,127,873 | G/A | — | uncertain significance |
| rs2528133976 | 1:156,127,883 | G/C | — | uncertain significance |
| rs375988988 | 1:156,127,892 | G/A | — | uncertain significance |
| rs147171759 | 1:156,127,900 | G/A | — | uncertain significance |
| rs2102945623 | 1:156,127,902 | C/T | — | likely benign |
Showing 100 of 511 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.