NOTCH2
notch receptor 2
Summary
This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Known Variants1,353 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2526101390 | 1:120,457,920 | T/G | — | likely benign |
| rs1276272666 | 1:120,457,929 | T/G | — | uncertain significance |
| rs771638958 | 1:120,457,932 | C/T | — | conflicting classifications of pathogenicity |
| rs769520444 | 1:120,457,933 | G/A | — | uncertain significance |
| rs1187087183 | 1:120,457,940 | C/T | — | uncertain significance |
| rs2101140994 | 1:120,457,943 | G/T | — | uncertain significance |
| rs1360394263 | 1:120,457,955 | G/A | — | uncertain significance |
| rs1415139999 | 1:120,457,956 | T/C | — | likely benign |
| rs139658777 | 1:120,457,968 | C/T | — | uncertain significance |
| rs2101141069 | 1:120,457,969 | A/G | — | uncertain significance |
| rs759456867 | 1:120,457,977 | C/T | — | conflicting classifications of pathogenicity |
| rs982883277 | 1:120,457,981 | G/A | — | uncertain significance |
| rs145366664 | 1:120,457,987 | C/T | — | uncertain significance |
| rs1352825600 | 1:120,457,989 | C/G | — | uncertain significance |
| rs1173768056 | 1:120,457,992 | A/G | — | likely benign |
| rs764210725 | 1:120,458,003 | C/A | — | conflicting classifications of pathogenicity |
| rs6685892 | 1:120,458,004 | A/T | — | benign |
| rs372087953 | 1:120,458,007 | C/T | — | conflicting classifications of pathogenicity |
| rs375049462 | 1:120,458,008 | C/T | — | uncertain significance |
| rs1379769528 | 1:120,458,009 | C/G | — | uncertain significance |
| rs2101141240 | 1:120,458,019 | G/A | — | likely benign |
| rs764651559 | 1:120,458,022 | G/T | — | likely benign |
| rs770716987 | 1:120,458,027 | T/C | — | uncertain significance |
| rs1283706995 | 1:120,458,028 | C/A | — | likely benign |
| rs2526102597 | 1:120,458,044 | G/T | — | uncertain significance |
| rs141961602 | 1:120,458,057 | G/A | — | uncertain significance |
| rs1649029477 | 1:120,458,065 | C/G | — | uncertain significance |
| rs2526102769 | 1:120,458,076 | G/T | — | uncertain significance |
| rs2526102776 | 1:120,458,080 | G/A | — | uncertain significance |
| rs369912969 | 1:120,458,082 | A/T | — | conflicting classifications of pathogenicity |
| rs147795348 | 1:120,458,121 | G/C | — | conflicting classifications of pathogenicity |
| rs35586704 | 1:120,458,122 | A/T | — | likely benign |
| rs917979460 | 1:120,458,127 | A/G | — | likely benign |
| rs761965953 | 1:120,458,128 | C/A | — | uncertain significance |
| rs587778579 | 1:120,458,136 | A/T | — | not provided |
| rs1649032639 | 1:120,458,139 | G/C | — | likely benign |
| rs2101141522 | 1:120,458,140 | G/C | — | uncertain significance |
| rs587654671 | 1:120,458,146 | C/T | — | conflicting classifications of pathogenicity |
| rs1325403451 | 1:120,458,147 | G/A | — | pathogenic |
| rs2526103038 | 1:120,458,148 | C/T | — | likely benign |
| rs752104735 | 1:120,458,150 | C/T | — | uncertain significance |
| rs143197714 | 1:120,458,155 | G/C | — | uncertain significance |
| rs1270173261 | 1:120,458,169 | A/G | — | likely benign |
| rs778456880 | 1:120,458,171 | A/G | — | uncertain significance |
| rs387906749 | 1:120,458,180 | G/A | stop gained | pathogenic |
| rs1193431892 | 1:120,458,186 | G/T | — | uncertain significance |
| rs775423271 | 1:120,458,199 | C/T | — | likely benign |
| rs150785478 | 1:120,458,205 | C/G | — | likely benign |
| rs139595218 | 1:120,458,209 | G/A | — | uncertain significance |
| rs367757908 | 1:120,458,215 | G/A | — | uncertain significance |
| rs1277355453 | 1:120,458,216 | G/T | — | uncertain significance |
| rs761902824 | 1:120,458,218 | A/G | — | uncertain significance |
| rs2526103454 | 1:120,458,219 | A/G | — | uncertain significance |
| rs1216558404 | 1:120,458,220 | A/G | — | likely benign |
| rs1374498324 | 1:120,458,225 | G/C | — | uncertain significance |
| rs1557801639 | 1:120,458,226 | A/C | — | pathogenic |
| rs765404709 | 1:120,458,231 | C/T | — | uncertain significance |
| rs1166857688 | 1:120,458,233 | G/A | — | uncertain significance |
| rs2101141835 | 1:120,458,237 | G/C | — | uncertain significance |
| rs2101141863 | 1:120,458,246 | G/A | — | pathogenic |
| rs766636607 | 1:120,458,248 | G/A | — | uncertain significance |
| rs2526103665 | 1:120,458,255 | G/A | — | likely pathogenic |
| rs150657714 | 1:120,458,259 | G/A | — | likely benign |
| rs1553193485 | 1:120,458,267 | G/A | — | pathogenic |
| rs1297282799 | 1:120,458,268 | G/A | — | likely benign |
| rs75831573 | 1:120,458,270 | G/C | — | benign |
| rs756702495 | 1:120,458,271 | C/A | — | uncertain significance |
| rs763117840 | 1:120,458,273 | T/C | — | uncertain significance |
| rs2526103840 | 1:120,458,275 | A/G | — | uncertain significance |
| rs1378776407 | 1:120,458,276 | T/C | — | uncertain significance |
| rs1317265963 | 1:120,458,288 | A/G | — | uncertain significance |
| rs2526103907 | 1:120,458,290 | G/A | — | uncertain significance |
| rs2101142086 | 1:120,458,299 | G/A | — | uncertain significance |
| rs61734328 | 1:120,458,303 | A/G | — | likely benign |
| rs201993620 | 1:120,458,305 | C/T | — | uncertain significance |
| rs370648780 | 1:120,458,306 | G/A | — | uncertain significance |
| rs148846611 | 1:120,458,307 | G/C | — | likely benign |
| rs2101142144 | 1:120,458,309 | C/T | — | uncertain significance |
| rs2101142159 | 1:120,458,315 | C/A | — | pathogenic |
| rs2526104121 | 1:120,458,324 | G/A | — | pathogenic |
| rs766624616 | 1:120,458,329 | A/G | — | uncertain significance |
| rs1557801738 | 1:120,458,343 | G/A | — | likely benign |
| rs760004891 | 1:120,458,346 | C/T | — | conflicting classifications of pathogenicity |
| rs768047492 | 1:120,458,347 | G/A | — | uncertain significance |
| rs143506822 | 1:120,458,348 | C/T | — | uncertain significance |
| rs1278379367 | 1:120,458,360 | G/A | — | uncertain significance |
| rs757922369 | 1:120,458,363 | A/G | — | uncertain significance |
| rs587778578 | 1:120,458,366 | T/C | — | conflicting classifications of pathogenicity |
| rs587778577 | 1:120,458,371 | T/C | — | not provided |
| rs1177513541 | 1:120,458,383 | G/A | — | uncertain significance |
| rs1231066764 | 1:120,458,385 | C/A | — | likely benign |
| rs369891453 | 1:120,458,388 | C/T | — | conflicting classifications of pathogenicity |
| rs373527990 | 1:120,458,389 | G/A | — | uncertain significance |
| rs387906747 | 1:120,458,396 | G/A | stop gained | pathogenic |
| rs1311635249 | 1:120,458,398 | G/A | — | uncertain significance |
| rs771232139 | 1:120,458,400 | A/G | — | likely benign |
| rs1221201713 | 1:120,458,401 | A/T | — | uncertain significance |
| rs376191548 | 1:120,458,421 | C/G | — | uncertain significance |
| rs886043678 | 1:120,458,424 | G/A | — | uncertain significance |
| rs2526104706 | 1:120,458,427 | A/C | — | likely benign |
Showing 100 of 1,353 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.