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| The Chromosome 7 Annotation Project |
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| Gene / Transcript Structure |
| General information |
| Class | Known_Gene |
| TCAG Gene ID | GA0525 [Old ID: HSC7000525] |
| Gene Symbol | CNTNAP2 [HUGO ID: CNTNAP2] |
| Gene Name | Contactin associated protein-like 2 |
| Synonyms | CASPR2, NRXN4 |
| Summary | 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 associated with potassium channels. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness. |
| Omim | Contactin-associated protein-like 2 | 604569 |
| Gene Ontology | ●Biological process Cell adhesion [GO:0007155] Neuronal cell recognition [GO:0008038] Transmission of nerve impulse [GO:0019226] ●Cellular component Integral to membrane [GO:0016021] ●Molecular function Protein binding [GO:0005515] Structural molecule activity [GO:0005198] |
| Transcript | CNTNAP2 | T00428 | AF319045.1 |
| External links |
| LocusLink | 26047 |
| RefSeq | NM_014141 | NP_054860 |
| GenBank | AB020675 [mRNA] AC004891 [genome] AC004896 [genome] AC005378 [genome] AC006456 [genome] AF193613 [mRNA] AF318298 [genome] AF319045 [mRNA] AK000960 [mRNA] |
| PubMed | 14702039, 12809671, 11352571, 10624965, 10048485 |
| ABI Gene Expression "Assays-on-Demand™" | Hs00204255_m1 |
| Expression Data | KIAA0868 | Rt-PCR-ELISA |
| Affymetrix GeneChip | U133A U95A|37155_at |
| Transcript Sequence(s) |
Note: Some data originated from NCBI's LocusLink.