ALX4
ALX homeobox 4
Summary
This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]
Known Variants257 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs560087261 | 11:44,282,299 | G/A | — | benign |
| rs1030516530 | 11:44,282,310 | A/G | — | uncertain significance |
| rs369328027 | 11:44,282,405 | G/A | — | benign |
| rs886048283 | 11:44,282,416 | A/T | — | uncertain significance |
| rs1956178633 | 11:44,282,455 | G/C | — | uncertain significance |
| rs538499078 | 11:44,282,579 | C/G | — | uncertain significance |
| rs373307279 | 11:44,282,599 | C/T | — | likely benign |
| rs114755169 | 11:44,282,631 | T/C | — | benign |
| rs116662493 | 11:44,282,635 | A/G | — | benign |
| rs1956180135 | 11:44,282,778 | A/C | — | uncertain significance |
| rs11037919 | 11:44,282,808 | G/C | — | benign |
| rs569151215 | 11:44,282,827 | G/A | — | uncertain significance |
| rs1294809456 | 11:44,282,851 | A/G | — | uncertain significance |
| rs886048285 | 11:44,282,898 | A/T | — | uncertain significance |
| rs7115841 | 11:44,282,999 | C/A | — | uncertain significance |
| rs748214374 | 11:44,283,022 | C/T | — | uncertain significance |
| rs531931217 | 11:44,283,023 | G/A | — | uncertain significance |
| rs1054318916 | 11:44,283,145 | C/T | — | uncertain significance |
| rs550434819 | 11:44,283,163 | G/C | — | uncertain significance |
| rs1956182984 | 11:44,283,184 | C/T | — | uncertain significance |
| rs7116335 | 11:44,283,238 | G/A | — | benign |
| rs766967309 | 11:44,283,270 | C/T | — | uncertain significance |
| rs182987016 | 11:44,283,281 | C/T | — | benign |
| rs886048286 | 11:44,283,292 | G/A | — | uncertain significance |
| rs4755239 | 11:44,283,297 | T/C | — | benign |
| rs139681611 | 11:44,283,323 | G/A | — | benign |
| rs886048287 | 11:44,283,371 | C/T | — | uncertain significance |
| rs886048288 | 11:44,283,388 | C/T | — | uncertain significance |
| rs117877500 | 11:44,283,392 | G/C | — | benign |
| rs556132435 | 11:44,283,413 | C/T | — | uncertain significance |
| rs1035301125 | 11:44,283,465 | G/T | — | uncertain significance |
| rs886048289 | 11:44,283,521 | G/T | — | uncertain significance |
| rs192487688 | 11:44,283,543 | G/T | — | likely benign |
| rs182853569 | 11:44,283,559 | C/T | — | benign |
| rs886048290 | 11:44,283,569 | T/A | — | uncertain significance |
| rs1840254 | 11:44,283,572 | T/G | — | benign |
| rs77015141 | 11:44,283,576 | G/A | — | benign |
| rs372769669 | 11:44,283,654 | C/T | — | benign |
| rs897005 | 11:44,283,722 | G/A | — | benign |
| rs146304390 | 11:44,283,731 | A/T | — | benign |
| rs886048291 | 11:44,283,736 | A/G | — | uncertain significance |
| rs75369525 | 11:44,283,897 | C/T | — | benign |
| rs886048292 | 11:44,283,915 | G/A | — | uncertain significance |
| rs897004 | 11:44,283,925 | G/A | — | benign |
| rs187228888 | 11:44,283,926 | A/G | — | uncertain significance |
| rs886048293 | 11:44,283,935 | A/G | — | uncertain significance |
| rs192114163 | 11:44,283,941 | A/G | — | uncertain significance |
| rs886048294 | 11:44,283,973 | G/A | — | uncertain significance |
| rs139570599 | 11:44,284,055 | G/T | — | likely benign |
| rs183882854 | 11:44,284,160 | C/T | — | benign |
| rs78607024 | 11:44,284,178 | T/C | — | benign |
| rs1350470913 | 11:44,284,196 | G/T | — | uncertain significance |
| rs1590683863 | 11:44,284,223 | T/C | — | uncertain significance |
| rs7105993 | 11:44,284,294 | T/C | — | benign |
| rs886048295 | 11:44,284,333 | G/A | — | uncertain significance |
| rs886048296 | 11:44,284,374 | C/T | — | uncertain significance |
| rs189662898 | 11:44,284,491 | C/T | — | benign |
| rs78007447 | 11:44,284,503 | T/C | — | benign |
| rs55959427 | 11:44,284,508 | T/C | — | benign |
| rs76845793 | 11:44,284,691 | C/G | — | benign |
| rs886048297 | 11:44,284,694 | A/G | — | uncertain significance |
| rs7942612 | 11:44,284,705 | A/C | — | benign |
| rs184605209 | 11:44,284,775 | G/A | — | benign |
| rs1271697400 | 11:44,284,777 | A/C | — | uncertain significance |
| rs561685019 | 11:44,284,805 | G/A | — | uncertain significance |
| rs562110335 | 11:44,284,814 | C/T | — | uncertain significance |
| rs373805569 | 11:44,284,872 | C/T | — | benign |
| rs886048298 | 11:44,284,934 | G/A | — | uncertain significance |
| rs552492615 | 11:44,284,938 | C/T | — | uncertain significance |
| rs771684261 | 11:44,284,941 | G/C | — | uncertain significance |
| rs11037920 | 11:44,284,957 | C/T | — | benign |
| rs886048299 | 11:44,284,960 | C/G | — | uncertain significance |
| rs886048300 | 11:44,284,996 | C/A | — | uncertain significance |
| rs529798397 | 11:44,285,039 | G/T | — | benign |
| rs886048301 | 11:44,285,048 | A/G | — | uncertain significance |
| rs113781536 | 11:44,285,059 | C/T | — | benign |
| rs76501131 | 11:44,285,177 | C/T | — | benign |
| rs886048302 | 11:44,285,247 | G/T | — | uncertain significance |
| rs886048303 | 11:44,285,269 | G/A | — | uncertain significance |
| rs10458913 | 11:44,285,273 | A/G | — | benign |
| rs1056695823 | 11:44,285,282 | C/T | — | uncertain significance |
| rs146483327 | 11:44,285,283 | G/A | — | benign |
| rs149094042 | 11:44,285,316 | C/T | — | benign |
| rs1031249586 | 11:44,285,328 | G/A | — | uncertain significance |
| rs532888348 | 11:44,285,356 | G/A | — | benign |
| rs142207322 | 11:44,285,379 | G/A | — | uncertain significance |
| rs776365654 | 11:44,285,401 | G/T | — | uncertain significance |
| rs192668810 | 11:44,285,407 | G/C | — | benign |
| rs117526668 | 11:44,285,431 | C/T | — | benign |
| rs151214135 | 11:44,285,432 | G/A | — | benign |
| rs140400459 | 11:44,285,441 | C/T | — | benign |
| rs552527026 | 11:44,285,442 | G/A | — | uncertain significance |
| rs188954464 | 11:44,285,460 | C/A | — | benign |
| rs181642223 | 11:44,285,481 | G/A | — | benign |
| rs185632337 | 11:44,285,482 | A/C | — | benign |
| rs76229477 | 11:44,285,502 | C/T | — | benign |
| rs543627488 | 11:44,285,505 | G/A | — | likely benign |
| rs746147000 | 11:44,285,537 | G/A | — | uncertain significance |
| rs758619819 | 11:44,285,545 | G/T | — | uncertain significance |
| rs951437284 | 11:44,285,548 | C/T | — | uncertain significance |
Showing 100 of 257 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.