Identity
HGNC
LOCATION
17q21.2
LOCUSID
ALIAS
CASPR,CHN3,CNTNAP,NRXN4,P190
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: 8506
MIM: 602346
HGNC: 8011
Ensembl: ENSG00000108797
Variants:
dbSNP: 8506
ClinVar: 8506
TCGA: ENSG00000108797
COSMIC: CNTNAP1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000108797 | ENST00000264638 | P78357 |
| ENSG00000108797 | ENST00000591662 | K7EMM9 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37862170 | 2023 | Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits. | 1 |
| 37862170 | 2023 | Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits. | 1 |
| 35023290 | 2022 | M2-polarization-related CNTNAP1 gene might be a novel immunotherapeutic target and biomarker for clear cell renal cell carcinoma. | 6 |
| 35182943 | 2022 | CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period. | 2 |
| 35023290 | 2022 | M2-polarization-related CNTNAP1 gene might be a novel immunotherapeutic target and biomarker for clear cell renal cell carcinoma. | 6 |
| 35182943 | 2022 | CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period. | 2 |
| 33148880 | 2020 | Mutations of CNTNAP1 led to defects in neuronal development. | 3 |
| 33148880 | 2020 | Mutations of CNTNAP1 led to defects in neuronal development. | 3 |
| 30792309 | 2019 | A CASPR1-ATP1B3 protein interaction modulates plasma membrane localization of Na(+)/K(+)-ATPase in brain microvascular endothelial cells. | 9 |
| 30792309 | 2019 | A CASPR1-ATP1B3 protein interaction modulates plasma membrane localization of Na(+)/K(+)-ATPase in brain microvascular endothelial cells. | 9 |
| 29511323 | 2018 | Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. | 8 |
| 29895952 | 2018 | Caspr1 is a host receptor for meningitis-causing Escherichia coli. | 26 |
| 29511323 | 2018 | Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. | 8 |
| 29895952 | 2018 | Caspr1 is a host receptor for meningitis-causing Escherichia coli. | 26 |
| 27782105 | 2017 | Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy. | 8 |
Citation
Dessen P
CNTNAP1 (contactin associated protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61963/cntnap1-(contactin-associated-protein-1)
