Identity
HGNC
LOCATION
7q35
LOCUSID
ALIAS
AUTS15,CASPR2,CDFE,NRXN4,PTHSL1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 26047
MIM: 604569
HGNC: 13830
Ensembl: ENSG00000174469
Variants:
dbSNP: 26047
ClinVar: 26047
TCGA: ENSG00000174469
COSMIC: CNTNAP2
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Cell adhesion molecules (CAMs) | KEGG | ko04514 |
| Cell adhesion molecules (CAMs) | KEGG | hsa04514 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37805811 | 2024 | Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants. | 1 |
| 38315301 | 2024 | Novel and known minor alleles of CNTNAP2 gene variants are associated with comorbidity of intellectual disability and epilepsy phenotypes: a case-control association study reveals potential biomarkers. | 0 |
| 38386048 | 2024 | Different pain phenotypes are associated with anti-Caspr2 autoantibodies. | 0 |
| 37805811 | 2024 | Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants. | 1 |
| 38315301 | 2024 | Novel and known minor alleles of CNTNAP2 gene variants are associated with comorbidity of intellectual disability and epilepsy phenotypes: a case-control association study reveals potential biomarkers. | 0 |
| 38386048 | 2024 | Different pain phenotypes are associated with anti-Caspr2 autoantibodies. | 0 |
| 37001843 | 2023 | Loss of CNTNAP2 Alters Human Cortical Excitatory Neuron Differentiation and Neural Network Development. | 2 |
| 37183190 | 2023 | Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. | 2 |
| 37001843 | 2023 | Loss of CNTNAP2 Alters Human Cortical Excitatory Neuron Differentiation and Neural Network Development. | 2 |
| 37183190 | 2023 | Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. | 2 |
| 34310948 | 2022 | The Role of CNTNAP2 in Itch Sensation. | 0 |
| 34921780 | 2022 | Shed CNTNAP2 ectodomain is detectable in CSF and regulates Ca(2+) homeostasis and network synchrony via PMCA2/ATP2B2. | 13 |
| 35253937 | 2022 | Human CASPR2 Antibodies Reversibly Alter Memory and the CASPR2 Protein Complex. | 6 |
| 35733350 | 2022 | Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay. | 1 |
| 35982066 | 2022 | PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas. | 4 |
Citation
Dessen P
CNTNAP2 (contactin associated protein 2)
Atlas Genet Cytogenet Oncol Haematol. 2007-07-01
Online version: http://atlasgeneticsoncology.org/gene/47586/cntnap2
