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Details on Person UniProt:Q9UHC6 CNTNAP2
| Class:Id | ReferenceGeneProduct:52978 |
|---|---|
| _chainChangeLog | signal peptide:1-27 added on Fri February 6 2015;chain:28-1331 added on Fri February 6 2015 |
| _displayName | UniProt:Q9UHC6 CNTNAP2 |
| _timestamp | 2024-11-03 20:18:28 |
| chain | signal peptide:1-27 chain:28-1331 |
| checksum | CFB2CB55BEFB99C2 |
| comment | FUNCTION Required for gap junction formation (Probable). Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction.SUBUNIT Interacts (via C-terminus) with KCNA2 (PubMed:10624965). Interacts with GPR37 (PubMed:25977097).INTERACTION Expressed in the juxtaparadonal region.ALTERNATIVE PRODUCTS Predominantly expressed in nervous system.DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry.DISEASE A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder. Paracentric inversion 46,XY,inv(7)(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the neurexin family.SEQUENCE CAUTION Extended N-terminus. |
| description | recommendedName: Contactin-associated protein-like 2 alternativeName: Cell recognition molecule Caspr2 |
| geneName | CNTNAP2 CASPR2 KIAA0868 |
| identifier | Q9UHC6 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Autism Autism spectrum disorder Cell adhesion Cell junction Cell projection Chromosomal rearrangement Disulfide bond EGF-like domain Epilepsy Glycoprotein Intellectual disability Membrane Phosphoprotein Proteomics identification Reference proteome Repeat Signal Transmembrane Transmembrane helix |
| modified | [InstanceEdit:84067] Schmidt, EE, 2003-12-18 04:29:09 [InstanceEdit:143527] Schmidt, EE, 2004-11-12 07:45:10 [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 [InstanceEdit:354386] Schmidt, EE, 2008-06-18 04:45:12 [InstanceEdit:384350] Kanapin, AA, 2008-11-26 14:00:39 [InstanceEdit:392885] Kanapin, AA, 2009-03-09 12:07:18 [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 [InstanceEdit:423310] Kanapin, AA [InstanceEdit:435478] Kanapin, AA [InstanceEdit:435871] Kanapin, AA [InstanceEdit:447347] Kanapin, AA [InstanceEdit:525883] Kanapin, AA [InstanceEdit:613449] Kanapin, AA [InstanceEdit:797602] Kanapin, AA [InstanceEdit:937368] Yung, CK [InstanceEdit:1042053] Yung, CK [InstanceEdit:1220657] Yung, CK [InstanceEdit:1300696] Yung, CK [InstanceEdit:1301627] Yung, CK [InstanceEdit:1551960] Weiser, JD [InstanceEdit:1995863] Weiser, JD [InstanceEdit:2132304] Weiser, JD [InstanceEdit:2265580] Weiser, JD [InstanceEdit:3445779] Weiser, JD [InstanceEdit:4341137] Weiser, JD [InstanceEdit:5433710] Weiser, JD [InstanceEdit:5618415] Weiser, JD [InstanceEdit:5634237] Weiser, JD [InstanceEdit:5673015] Weiser, JD [InstanceEdit:6791590] Weiser, JD [InstanceEdit:8987656] Weiser, JD [InstanceEdit:9015733] Weiser, JD [InstanceEdit:9037114] Weiser, JD [InstanceEdit:9627708] Weiser, JD [InstanceEdit:9637257] Weiser, JD [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9715482] Weiser, JD [InstanceEdit:9730071] Weiser, JD [InstanceEdit:9796772] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | CNTNAP2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8999401] ENSEMBL:ENSG00000174469 CNTNAP2 [Homo sapiens] |
| secondaryIdentifier | CNTP2_HUMAN D3DWG2 Q14DG2 Q52LV1 Q5H9Q7 Q9UQ12 |
| sequenceLength | 1331 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:224724] UniProt:Q9UHC6-2 CNTNAP2 [Homo sapiens] [ReferenceIsoform:415364] UniProt:Q9UHC6-1 CNTNAP2 [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q9UHC6 CNTNAP2 (52978)
