CNTNAP1 Chromosome 17
Contactin associated protein 1
Upload your DNA to see your personal genotypes for variants in CNTNAP1.
What This Gene Does
The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]
Gene Info
Gene Group
Contactin associated protein family
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000108797
Associated Conditions (13)
Inborn genetic diseases
Gastric cancer
Neuropathy
congenital hypomyelinating
3
CNTNAP1-related disorder
Lethal congenital contracture syndrome 7
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Congenital hypomyelination neuropathy with or without arthrogryposis
Arthrogryposis
distal
type 1A
Key Variants
RS150167601
Conflicting classifications of pathogenicity
Inborn genetic diseases, Gastric cancer, Inborn genetic diseases
Health Risk
RS200871551
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2053035860
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2143663891
Conflicting classifications of pathogenicity
Neuropathy, congenital hypomyelinating, 3
Health Risk
RS369648544
Conflicting classifications of pathogenicity
CNTNAP1-related disorder, CNTNAP1-related disorder
Health Risk
RS369859767
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372272058
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neuropathy, congenital hypomyelinating
Health Risk
RS373250430
Conflicting classifications of pathogenicity
CNTNAP1-related disorder, Neuropathy, congenital hypomyelinating
Health Risk
RS759059084
Conflicting classifications of pathogenicity
Lethal congenital contracture syndrome 7, Neuropathy, congenital hypomyelinating
Health Risk
RS775901839
Conflicting classifications of pathogenicity
Health Risk
RS779027563
Conflicting classifications of pathogenicity
Lethal congenital contracture syndrome 7, Neuropathy, congenital hypomyelinating
Health Risk
RS779992820
Conflicting classifications of pathogenicity
Lethal congenital contracture syndrome 7, Neuropathy, congenital hypomyelinating
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150167601 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Gastric cancer, Inborn genetic diseases |
| RS200871551 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2053035860 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2143663891 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, congenital hypomyelinating, 3 |
| RS369648544 | Health Risk | Conflicting classifications of pathogenicity | CNTNAP1-related disorder, CNTNAP1-related disorder |
| RS369859767 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372272058 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neuropathy, congenital hypomyelinating |
| RS373250430 | Health Risk | Conflicting classifications of pathogenicity | CNTNAP1-related disorder, Neuropathy, congenital hypomyelinating |
| RS759059084 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital contracture syndrome 7, Neuropathy, congenital hypomyelinating |
| RS775901839 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779027563 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital contracture syndrome 7, Neuropathy, congenital hypomyelinating |
| RS779992820 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital contracture syndrome 7, Neuropathy, congenital hypomyelinating |
| RS1597807901 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita |
| RS2053027040 | Health Risk | Likely pathogenic | — |
| RS2053035301 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7 |
| RS2053086109 | Health Risk | Likely pathogenic | — |
| RS2143644450 | Health Risk | Likely pathogenic | — |
| RS2143661323 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7 |
| RS2143676048 | Health Risk | Likely pathogenic | Congenital hypomyelination neuropathy with or without arthrogryposis, Congenital hypomyelination neuropathy with or without arthrogryposis |
| RS2543793851 | Health Risk | Likely pathogenic | Neuropathy, congenital hypomyelinating, 3 |
| RS2543797507 | Health Risk | Likely pathogenic | — |
| RS2543806196 | Health Risk | Likely pathogenic | Neuropathy, congenital hypomyelinating, 3 |
| RS746361190 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7 |
| RS768554986 | Health Risk | Likely pathogenic | Neuropathy, congenital hypomyelinating, 3 |
| RS1131691767 | Health Risk | Pathogenic | — |
| RS1159275615 | Health Risk | Pathogenic | — |
| RS142756549 | Health Risk | Pathogenic | Neuropathy, congenital hypomyelinating, 3 |
| RS144659252 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7 |
| RS1555642784 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7 |
| RS1567969825 | Health Risk | Pathogenic | Neuropathy, congenital hypomyelinating, 3 |
| RS1567973088 | Health Risk | Pathogenic | Neuropathy, congenital hypomyelinating, 3 |
| RS1567973091 | Health Risk | Pathogenic | Arthrogryposis, distal, type 1A |
| RS1597802927 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita |
| RS2053168326 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7 |
| RS2143663531 | Health Risk | Pathogenic | — |
| RS2543791313 | Health Risk | Pathogenic | — |
| RS2543806145 | Health Risk | Pathogenic | — |
| RS751050956 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 7, Neuropathy, congenital hypomyelinating |
| RS753677285 | Health Risk | Pathogenic | — |
| RS756896276 | Health Risk | Pathogenic | Neuropathy, congenital hypomyelinating, 3 |
| RS757901877 | Health Risk | Pathogenic | — |
| RS778961637 | Health Risk | Pathogenic | — |
| RS786204799 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7 |
| RS786204800 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7 |
| RS878853221 | Health Risk | Pathogenic | Neuropathy, congenital hypomyelinating, 3 |