NCAM1
neural cell adhesion molecule 1
Summary
This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein plays a role in the development of the nervous system by regulating neurogenesis, neurite outgrowth, and cell migration. This protein is also involved in the expansion of T lymphocytes, B lymphocytes and natural killer (NK) cells which play an important role in immune surveillance. This protein plays a role in signal transduction by interacting with fibroblast growth factor receptors, N-cadherin and other components of the extracellular matrix and by triggering signalling cascades involving FYN-focal adhesion kinase (FAK), mitogen-activated protein kinase (MAPK), and phosphatidylinositol 3-kinase (PI3K). One prominent isoform of this gene, cell surface molecule CD56, plays a role in several myeloproliferative disorders such as acute myeloid leukemia and differential expression of this gene is associated with differential disease progression. For example, increased expression of CD56 is correlated with lower survival in acute myeloid leukemia patients whereas increased severity of COVID-19 is correlated with decreased abundance of CD56-expressing NK cells in peripheral blood. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2020]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10891480 | 11:112,830,526 | T/G | coding sequence variant | — |
| rs10891481 | 11:112,830,562 | A/T | coding sequence variant | — |
| rs10789929 | 11:112,830,663 | C/A | coding sequence variant | — |
| rs11214436 | 11:112,830,782 | G/T | coding sequence variant | — |
| rs1555063042 | 11:112,832,359 | T/A | — | uncertain significance |
| rs2155281 | 11:112,838,338 | G/A | upstream gene variant | — |
| rs7948789 | 11:112,839,532 | A/G | intron variant | — |
| rs11214441 | 11:112,846,713 | T/A | upstream gene variant | — |
| rs2298527 | 11:112,851,961 | G/C | downstream gene variant | — |
| rs1940729 | 11:112,852,192 | T/G | — | — |
| rs1940728 | 11:112,852,195 | G/C | — | — |
| rs1940720 | 11:112,857,202 | A/G | intron variant | — |
| rs7106434 | 11:112,860,579 | T/C | intron variant | — |
| rs4466874 | 11:112,861,434 | T/A | — | — |
| rs4424705 | 11:112,863,579 | T/A | intron variant | — |
| rs4439551 | 11:112,865,906 | T/G | — | — |
| rs4144892 | 11:112,866,456 | C/A | — | — |
| rs11214447 | 11:112,867,985 | G/A | intron variant | — |
| rs10891488 | 11:112,869,103 | G/T | intron variant | — |
| rs1940701 | 11:112,869,404 | T/G | — | — |
| rs9919670 | 11:112,877,304 | G/A | intron variant | — |
| rs9919558 | 11:112,877,409 | T/A | intron variant | — |
| rs999851 | 11:112,889,846 | A/G | intron variant | — |
| rs1320670 | 11:112,902,671 | A/T | intron variant | — |
| rs7945073 | 11:112,903,595 | G/A | intron variant | — |
| rs7127528 | 11:112,904,479 | C/T | intron variant | — |
| rs7128314 | 11:112,905,039 | C/T | intron variant | — |
| rs4480572 | 11:112,905,776 | C/T | intron variant | — |
| rs1940712 | 11:112,906,218 | G/C | intron variant | — |
| rs1940713 | 11:112,906,285 | T/A | — | — |
| rs1940714 | 11:112,906,391 | T/A | — | — |
| rs7935745 | 11:112,906,804 | A/G | regulatory region variant | — |
| rs2155292 | 11:112,910,783 | A/T | — | — |
| rs7942723 | 11:112,911,839 | T/G | intron variant | — |
| rs3802850 | 11:112,912,518 | A/G | — | — |
| rs2155646 | 11:112,912,811 | T/A | — | — |
| rs56360439 | 11:112,915,365 | T/C | intron variant | — |
| rs10891496 | 11:112,920,921 | C/T | intron variant | — |
| rs146805437 | 11:112,921,663 | G/A | intron variant | — |
| rs12577005 | 11:112,923,802 | C/A | intron variant | — |
| rs2509377 | 11:112,926,259 | T/C | intron variant | — |
| rs2437694 | 11:112,926,312 | G/C | intron variant | — |
| rs1836798 | 11:112,931,625 | A/G | intron variant | — |
| rs57494072 | 11:112,966,379 | C/T | intron variant | — |
| rs78239456 | 11:112,984,491 | A/T | — | — |
| rs1436109 | 11:112,991,618 | G/T | intron variant | — |
| rs10502168 | 11:112,995,432 | C/A | intron variant | — |
| rs12286728 | 11:113,022,450 | G/C | regulatory region variant | — |
| rs17510563 | 11:113,033,220 | A/T | — | — |
| rs4143165 | 11:113,040,818 | G/A | intron variant | — |
| rs17115088 | 11:113,056,672 | C/A | intron variant | — |
| rs965560 | 11:113,072,605 | G/A | intron variant | — |
| rs188950571 | 11:113,075,202 | G/A | — | uncertain significance |
| rs17115156 | 11:113,078,047 | T/C | — | benign |
| rs2548439337 | 11:113,085,230 | A/T | — | uncertain significance |
| rs2548515967 | 11:113,101,938 | G/T | — | uncertain significance |
| rs117219783 | 11:113,101,958 | G/A | — | benign |
| rs2548516223 | 11:113,101,981 | C/T | — | uncertain significance |
| rs2548521704 | 11:113,102,897 | C/T | — | uncertain significance |
| rs2548534517 | 11:113,105,823 | G/A | — | uncertain significance |
| rs2548534674 | 11:113,105,859 | G/A | — | uncertain significance |
| rs12279261 | 11:113,106,455 | A/T | — | — |
| rs61902539 | 11:113,113,152 | G/T | intron variant | — |
| rs3781878 | 11:113,120,212 | G/A | regulatory region variant | — |
| rs2548639592 | 11:113,130,916 | C/T | — | uncertain significance |
| rs1945952650 | 11:113,131,000 | G/A | — | uncertain significance |
| rs1555123080 | 11:113,131,024 | G/A | — | uncertain significance |
| rs654362 | 11:113,135,866 | G/C | downstream gene variant | — |
| rs2548681573 | 11:113,140,943 | G/A | — | uncertain significance |
| rs1242652487 | 11:113,140,945 | G/C | — | uncertain significance |
| rs2548681772 | 11:113,140,996 | G/T | — | uncertain significance |
| rs2548681949 | 11:113,141,047 | G/A | — | uncertain significance |
| rs2548687029 | 11:113,142,522 | G/A | — | uncertain significance |
| rs200459186 | 11:113,142,572 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.