CNTNAP4
contactin associated protein family member 4
Summary
This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this gene may be associated with longevity. [provided by RefSeq, Apr 2016]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7193230 | 16:76,318,542 | G/C | upstream gene variant | — |
| rs1428758 | 16:76,341,506 | A/G | upstream gene variant | — |
| rs2507537233 | 16:76,350,387 | G/A | — | uncertain significance |
| rs150749087 | 16:76,384,476 | C/A | — | — |
| rs2507930453 | 16:76,389,322 | A/G | — | uncertain significance |
| rs2507931282 | 16:76,389,383 | A/G | — | uncertain significance |
| rs12919084 | 16:76,459,369 | C/T | intron variant | — |
| rs2508875752 | 16:76,461,432 | C/T | — | likely benign |
| rs2079454933 | 16:76,461,475 | G/A | — | uncertain significance |
| rs12716811 | 16:76,464,943 | A/C | — | — |
| rs7184847 | 16:76,468,619 | C/G | intron variant | — |
| rs9935637 | 16:76,469,730 | C/G | intron variant | — |
| rs2221534 | 16:76,473,852 | C/A | intron variant | — |
| rs1471172229 | 16:76,482,699 | A/G | — | uncertain significance |
| rs970009969 | 16:76,483,636 | C/T | — | uncertain significance |
| rs62050081 | 16:76,485,650 | G/A | — | — |
| rs2509099059 | 16:76,486,523 | A/G | — | likely benign |
| rs2509099801 | 16:76,486,584 | G/A | — | likely benign |
| rs2509100127 | 16:76,486,609 | G/A | — | uncertain significance |
| rs35994137 | 16:76,495,842 | C/A | — | benign |
| rs74025012 | 16:76,503,539 | C/T | upstream gene variant | — |
| rs1506812 | 16:76,507,956 | A/T | — | — |
| rs1214977180 | 16:76,513,370 | T/A | — | conflicting classifications of pathogenicity |
| rs1016740515 | 16:76,523,595 | C/T | — | uncertain significance |
| rs777746016 | 16:76,523,645 | C/T | — | uncertain significance |
| rs772268354 | 16:76,523,701 | G/A | — | likely benign |
| rs2507091537 | 16:76,523,753 | A/G | — | uncertain significance |
| rs2082346736 | 16:76,528,809 | G/A | — | uncertain significance |
| rs112577515 | 16:76,555,177 | A/T | — | likely benign |
| rs4485401 | 16:76,566,157 | A/G | regulatory region variant | — |
| rs2507421034 | 16:76,573,620 | T/G | — | uncertain significance |
| rs2507421134 | 16:76,573,631 | G/T | — | uncertain significance |
| rs2507422083 | 16:76,573,732 | G/A | — | uncertain significance |
| rs757651754 | 16:76,574,617 | G/C | — | uncertain significance |
| rs2085037026 | 16:76,587,180 | A/G | — | uncertain significance |
| rs144247939 | 16:76,587,220 | G/A | — | uncertain significance |
| rs2085044644 | 16:76,587,267 | C/T | — | uncertain significance |
| rs2507512259 | 16:76,587,275 | A/G | — | uncertain significance |
| rs777434553 | 16:76,592,459 | G/T | — | uncertain significance |
| rs2507549466 | 16:76,592,542 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.