CNTNAP2 Chromosome 7
Contactin associated protein 2
Upload your DNA to see your personal genotypes for variants in CNTNAP2.
What This Gene Does
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]
Gene Info
Gene Group
Contactin associated protein family
Locus Type
gene with protein product
Location
7q35-q36.1
Ensembl
ENSG00000174469
Associated Conditions (28)
Cortical dysplasia-focal epilepsy syndrome
Autism
susceptibility to
15
Inborn genetic diseases
See cases
CNTNAP2-related disorder
Melanoma
Lung cancer
Intellectual disability
Self-limited epilepsy with centrotemporal spikes
Malignant lymphoma
large B-cell
diffuse
Acute myeloid leukemia
Uterine corpus endometrial carcinoma
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Lymphoma
Nonpapillary renal cell carcinoma
Familial cancer of breast
+8 more conditions
Key Variants
RS1057520468
Conflicting classifications of pathogenicity
Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
Health Risk
RS1064794765
Conflicting classifications of pathogenicity
Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
Health Risk
RS117876038
Conflicting classifications of pathogenicity
Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
Health Risk
RS121908445
Conflicting classifications of pathogenicity
Autism, susceptibility to, 15
Health Risk
RS1286176571
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138481453
Conflicting classifications of pathogenicity
Cortical dysplasia-focal epilepsy syndrome, See cases, Inborn genetic diseases
Health Risk
RS138517537
Conflicting classifications of pathogenicity
Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases, Cortical dysplasia-focal epilepsy syndrome
Health Risk
RS139180845
Conflicting classifications of pathogenicity
Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases, CNTNAP2-related disorder
Health Risk
RS141078449
Conflicting classifications of pathogenicity
Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases, CNTNAP2-related disorder
Health Risk
RS141439475
Conflicting classifications of pathogenicity
Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases, CNTNAP2-related disorder
Health Risk
RS141772824
Conflicting classifications of pathogenicity
Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
Health Risk
RS141831869
Conflicting classifications of pathogenicity
Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
Health Risk
All Variants (190)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2129279519 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS2129279547 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS2129279551 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS2129282705 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS2485692231 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS2485755924 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS2485881102 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS2485901377 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS2485901451 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS2485922676 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS2535854030 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS2535940744 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS2536301748 | Health Risk | Pathogenic | Inborn genetic diseases, Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases |
| RS2536567810 | Health Risk | Pathogenic | Pitt-Hopkins-like syndrome, Pitt-Hopkins-like syndrome |
| RS2536593200 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS398124268 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS730880275 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS730880276 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS746615217 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS749575477 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS752550849 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, See cases, Inborn genetic diseases |
| RS761596436 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS771827120 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Autism, susceptibility to |
| RS772883080 | Health Risk | Pathogenic | Inborn genetic diseases, Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases |
| RS796052374 | Health Risk | Pathogenic | — |
| RS796052388 | Health Risk | Pathogenic | — |
| RS886041991 | Health Risk | Pathogenic | — |
| RS986848347 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS991842796 | Health Risk | Pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS1159246607 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases |
| RS1247068015 | Health Risk | Pathogenic/Likely pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS1391540245 | Health Risk | Pathogenic/Likely pathogenic | Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases, Autism |
| RS1794916576 | Health Risk | Pathogenic/Likely pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS267601384 | Health Risk | Pathogenic/Likely pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS371512835 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, Autism spectrum disorder, Intellectual disability |
| RS766777011 | Health Risk | Pathogenic/Likely pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS771533907 | Health Risk | Pathogenic/Likely pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS972116002 | Health Risk | Pathogenic/Likely pathogenic | Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS2710102 | Health Risk | risk factor | Autism, susceptibility to, 15 |
| RS7794745 | Health Risk | risk factor | Autism, susceptibility to, 15 |