CNTN1 contactin 1
Gene ID: 1272, updated on 18-Sep-2024Gene type: protein coding
Also known as: F3; GP135; MYPCN; CMYO12; CMYP12
- See all available tests in GTR for this gene
- Go to complete Gene record for CNTN1
- Go to Variation Viewer for CNTN1 variants
Summary
The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies protein quantitative trait loci (pQTLs). GeneReviews: Not available | |
| A genome-wide association study identifies susceptibility loci of silica related pneumoconiosis in Han Chinese. GeneReviews: Not available | |
| A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder. GeneReviews: Not available | |
| Compton-North congenital myopathy | See labs |
| Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. GeneReviews: Not available | |
| Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. GeneReviews: Not available | |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available |
Genomic context
- Location:
- 12q12
- Sequence:
- Chromosome: 12; NC_000012.12 (40692439..41072415)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CNTN1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CNTN1 homepage - Leiden Muscular Dystrophy pages
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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