CNTNAP2
contactin associated protein 2
Summary
This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, 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, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability. [provided by RefSeq, Jul 2017]
Known Variants1,549 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150447075 | 7:145,813,047 | T/G | regulatory region variant | likely benign |
| rs34712024 | 7:145,813,093 | A/G | regulatory region variant | benign |
| rs886062039 | 7:145,813,515 | G/T | — | uncertain significance |
| rs560050853 | 7:145,813,530 | C/T | — | uncertain significance |
| rs886062040 | 7:145,813,575 | C/T | — | uncertain significance |
| rs187944069 | 7:145,813,640 | A/T | — | uncertain significance |
| rs886062043 | 7:145,813,751 | A/G | — | uncertain significance |
| rs886062044 | 7:145,813,801 | C/G | — | uncertain significance |
| rs886062045 | 7:145,813,823 | G/A | — | uncertain significance |
| rs769212821 | 7:145,813,824 | G/C | — | uncertain significance |
| rs886062046 | 7:145,813,834 | G/A | — | uncertain significance |
| rs2462603 | 7:145,813,854 | G/A | — | benign |
| rs886062047 | 7:145,813,908 | G/A | — | uncertain significance |
| rs549396215 | 7:145,813,920 | T/G | — | conflicting classifications of pathogenicity |
| rs796052368 | 7:145,813,923 | A/T | — | likely benign |
| rs762828266 | 7:145,813,933 | C/A | — | uncertain significance |
| rs191830389 | 7:145,813,934 | G/T | — | likely benign |
| rs587780903 | 7:145,813,937 | C/T | — | conflicting classifications of pathogenicity |
| rs879368718 | 7:145,813,951 | C/G | — | uncertain significance |
| rs1797490798 | 7:145,813,973 | A/G | — | uncertain significance |
| rs1237807319 | 7:145,813,977 | G/C | — | likely benign |
| rs1797490961 | 7:145,813,981 | C/T | — | uncertain significance |
| rs779710846 | 7:145,813,982 | C/T | — | uncertain significance |
| rs1584757095 | 7:145,813,984 | C/G | — | uncertain significance |
| rs2116710944 | 7:145,813,985 | G/A | — | uncertain significance |
| rs748908765 | 7:145,813,986 | C/A | — | conflicting classifications of pathogenicity |
| rs1064795189 | 7:145,813,987 | G/T | — | uncertain significance |
| rs1380843777 | 7:145,813,989 | C/G | — | likely benign |
| rs886044541 | 7:145,813,997 | G/A | — | uncertain significance |
| rs2535699006 | 7:145,814,003 | C/T | — | uncertain significance |
| rs796052375 | 7:145,814,005 | C/T | — | uncertain significance |
| rs1283986677 | 7:145,814,009 | T/C | — | uncertain significance |
| rs1315315089 | 7:145,814,013 | G/A | — | likely benign |
| rs886044073 | 7:145,814,016 | G/T | — | uncertain significance |
| rs1797492098 | 7:145,814,023 | A/G | — | uncertain significance |
| rs1064794501 | 7:145,814,024 | G/C | — | uncertain significance |
| rs1584757130 | 7:145,814,025 | C/T | — | likely benign |
| rs886062048 | 7:145,814,027 | G/A | — | uncertain significance |
| rs1341597305 | 7:145,814,030 | G/A | — | uncertain significance |
| rs768374052 | 7:145,814,033 | T/C | — | uncertain significance |
| rs200866893 | 7:145,814,041 | G/A | — | conflicting classifications of pathogenicity |
| rs796052366 | 7:145,814,051 | C/T | — | likely benign |
| rs886062049 | 7:145,814,055 | C/T | — | conflicting classifications of pathogenicity |
| rs2535699142 | 7:145,814,057 | C/G | — | uncertain significance |
| rs572889297 | 7:145,814,058 | C/T | — | likely benign |
| rs1387747328 | 7:145,814,060 | C/G | — | uncertain significance |
| rs794726938 | 7:145,814,065 | C/A | — | uncertain significance |
| rs972116002 | 7:145,814,066 | G/A | — | pathogenic |
| rs1584757170 | 7:145,814,068 | A/T | — | likely pathogenic |
| rs1437864196 | 7:145,814,084 | G/A | — | likely benign |
| rs375492857 | 7:145,814,087 | C/T | — | likely benign |
| rs139443887 | 7:145,814,114 | T/G | — | likely benign |
| rs34438057 | 7:145,882,824 | T/A | — | — |
| rs114360492 | 7:145,950,029 | C/T | intron variant | — |
| rs802568 | 7:145,959,243 | T/G | intron variant | — |
| rs149545162 | 7:145,967,584 | C/T | intron variant | — |
| rs7799181 | 7:146,048,830 | A/G | intron variant | — |
| rs73453125 | 7:146,084,573 | G/T | — | — |
| rs573026716 | 7:146,097,790 | T/C | — | — |
| rs1718101 | 7:146,122,788 | T/A | — | — |
| rs55795858 | 7:146,123,500 | T/C | intron variant | — |
| rs1358075 | 7:146,135,938 | T/C | intron variant | — |
| rs569866808 | 7:146,162,463 | C/A | — | — |
| rs67361718 | 7:146,220,633 | T/A | — | — |
| rs183246638 | 7:146,227,508 | A/G | intron variant | — |
| rs801935 | 7:146,230,592 | G/A | — | benign |
| rs801934 | 7:146,230,701 | G/A | — | benign |
| rs801933 | 7:146,231,001 | T/G | — | benign |
| rs56149121 | 7:146,280,686 | C/T | — | benign |
| rs116171641 | 7:146,330,673 | T/C | — | likely benign |
| rs540694424 | 7:146,348,027 | G/T | — | — |
| rs142050527 | 7:146,380,322 | A/C | — | likely benign |
| rs73166380 | 7:146,380,440 | A/C | — | likely benign |
| rs148183904 | 7:146,380,469 | A/C | — | likely benign |
| rs735162 | 7:146,380,578 | C/A | — | benign |
| rs903350 | 7:146,380,626 | G/T | — | benign |
| rs111344993 | 7:146,380,692 | A/G | — | likely benign |
| rs190748049 | 7:146,418,260 | C/T | intron variant | — |
| rs113529034 | 7:146,458,922 | T/C | — | — |
| rs73170322 | 7:146,471,084 | A/C | — | benign |
| rs77197724 | 7:146,471,173 | G/T | — | likely benign |
| rs148853070 | 7:146,471,259 | A/G | — | likely benign |
| rs116479521 | 7:146,471,307 | C/A | — | likely benign |
| rs112724037 | 7:146,471,322 | G/A | — | likely benign |
| rs199901768 | 7:146,471,343 | T/G | — | likely benign |
| rs2129185949 | 7:146,471,362 | G/A | — | likely pathogenic |
| rs2129185951 | 7:146,471,363 | A/G | — | uncertain significance |
| rs779436784 | 7:146,471,367 | A/C | — | uncertain significance |
| rs753486205 | 7:146,471,368 | T/C | — | uncertain significance |
| rs2485547269 | 7:146,471,373 | T/C | — | likely benign |
| rs2129185956 | 7:146,471,376 | G/A | — | likely benign |
| rs2129185957 | 7:146,471,377 | C/G | — | uncertain significance |
| rs778648331 | 7:146,471,379 | A/C | — | likely benign |
| rs747896321 | 7:146,471,380 | C/T | — | uncertain significance |
| rs969515416 | 7:146,471,382 | T/G | — | conflicting classifications of pathogenicity |
| rs1563225193 | 7:146,471,387 | C/T | — | uncertain significance |
| rs2485547309 | 7:146,471,393 | T/G | — | uncertain significance |
| rs2485547323 | 7:146,471,397 | C/G | — | likely benign |
| rs746922194 | 7:146,471,398 | C/A | — | uncertain significance |
| rs1328339613 | 7:146,471,400 | T/C | — | likely benign |
Showing 100 of 1,549 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.