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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CNTN1
contactin 1
Chromosome 12 Β· 12q12
NCBI Gene: 1272Ensembl: ENSG00000018236.16HGNC: HGNC:2171UniProt: Q12860
97PubMed Papers
21Diseases
0Drugs
23Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomeprotein bindingaxon guidancebrain developmentCompton-North congenital myopathyCongenital lethal myopathy, Compton-North typeParkinson diseaseurinary system disease
✦AI Summary

CNTN1 (contactin 1) is a cell adhesion molecule that mediates cell-cell interactions critical for nervous system development. It functions primarily in forming paranodal axo-glial junctions in myelinated peripheral nerves and facilitates signaling between axons and myelinating glial cells through association with CNTNAP1. CNTN1 acts as a NOTCH1 ligand, promoting oligodendrocyte generation via NOTCH1 activation and nuclear translocation of the notch intracellular domain. The protein also participates in axon guidance; interaction with TNR induces neuronal repulsion and inhibits neurite outgrowth. At the molecular level, CNTN1 genetic variation impacts white matter microstructure by modulating axon density in the corpus callosum 1. Clinically, CNTN1 is associated with congenital myopathy 12 and autoimmune nodopathy. Anti-CNTN1 antibodies are identified in approximately 6 of 401 CIDP patients studied, distinguishing autoimmune nodopathy from chr12 inflammatory demyelinating polyradiculoneuropathy, with affected patients showing ataxia, cranial nerve involvement, and poor response to intravenous immunoglobulin 2. Additionally, CNTN1 serves as a target antigen in membranous nephropathy, an autoimmune kidney disease causing nephrotic syndrome, identified in both single and dual-antigen presentations 345. CNTN1 is also recognized as a neural-associated biomarker with prognostic significance in hepatocellular carcinoma 6.

Sources cited
1
CNTN1 genetic variation modulates axon density in the corpus callosum white matter microstructure
PMID: 30094605
2
Anti-CNTN1 antibodies identify autoimmune nodopathy in CIDP patients; associated with ataxia, cranial nerve involvement, and poor treatment response
PMID: 37879898
3
CNTN1 identified as a target antigen in membranous nephropathy alongside other newly discovered antigens
PMID: 37863839
4
CNTN1 is one of multiple target antigens identified in membranous nephropathy cases over the past 15 years
PMID: 40691733
5
CNTN1 confirmed as MN antigen in dual-antigen membranous nephropathy cases detected by LC MS/MS and immunohistochemistry
PMID: 41197955
6
CNTN1 serves as a neural-associated biomarker with prognostic significance in hepatocellular carcinoma
PMID: 40355012
Disease Associationsβ“˜21
Compton-North congenital myopathyOpen Targets
0.67Moderate
Congenital lethal myopathy, Compton-North typeOpen Targets
0.49Moderate
Parkinson diseaseOpen Targets
0.34Weak
urinary system diseaseOpen Targets
0.32Weak
Escherichia coli InfectionsOpen Targets
0.28Weak
exostosisOpen Targets
0.25Weak
retinopathyOpen Targets
0.22Weak
Precordial painOpen Targets
0.21Weak
HypercholesterolemiaOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
Crohn's diseaseOpen Targets
0.13Weak
inflammatory bowel diseaseOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Suggestive
cervical carcinomaOpen Targets
0.10Suggestive
joint diseaseOpen Targets
0.10Suggestive
cancerOpen Targets
0.10Suggestive
gastric cancerOpen Targets
0.09Suggestive
acanthosis nigricansOpen Targets
0.09Suggestive
prostate cancerOpen Targets
0.09Suggestive
Congenital myopathy 12UniProt
Pathogenic Variants23
NM_001843.4(CNTN1):c.2711-1G>ALikely pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2024
NM_001843.4(CNTN1):c.1362G>A (p.Trp454Ter)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 454
NM_001843.4(CNTN1):c.2512G>T (p.Glu838Ter)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 838
NM_001843.4(CNTN1):c.1711C>T (p.Arg571Ter)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 571
NM_001843.4(CNTN1):c.94+2T>CLikely pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2024
NM_001843.4(CNTN1):c.739C>T (p.Gln247Ter)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2023β†’ Residue 247
NM_001843.4(CNTN1):c.482dup (p.Tyr162fs)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2023β†’ Residue 162
NM_001843.4(CNTN1):c.704-1G>ALikely pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2022
NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2022β†’ Residue 90
NM_001843.4(CNTN1):c.2923G>T (p.Glu975Ter)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2022β†’ Residue 975
NM_001843.4(CNTN1):c.2273_2274del (p.Thr758fs)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2022β†’ Residue 758
NM_001843.4(CNTN1):c.215dup (p.Val74fs)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2022β†’ Residue 74
NM_001843.4(CNTN1):c.2506del (p.Lys835_Ile836insTer)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2022β†’ Residue 835
NM_001843.4(CNTN1):c.1470_1471del (p.Gly491fs)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2022β†’ Residue 491
NM_001843.4(CNTN1):c.2632_2636del (p.Phe878fs)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2021β†’ Residue 878
NM_001843.4(CNTN1):c.62del (p.Glu21fs)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2021β†’ Residue 21
NM_001843.4(CNTN1):c.1615del (p.Val539fs)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2021β†’ Residue 539
NM_001843.4(CNTN1):c.2795C>A (p.Ser932Ter)Pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2021β†’ Residue 932
NM_001843.4(CNTN1):c.2597_2710+7delinsTTLikely pathogenic
Compton-North congenital myopathy
β˜…β˜†β˜†β˜†2020
NM_001843.4(CNTN1):c.202C>T (p.Arg68Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 68
View on ClinVar β†—
Related Genes
PTPRZ2Protein interaction100%L1CAMProtein interaction95%NOTCH1Protein interaction93%DTX1Protein interaction92%PTPRZ1Protein interaction86%NOTCH2Protein interaction82%
Tissue Expression6 tissues
Brain
100%
Ovary
41%
Heart
2%
Bone Marrow
1%
Lung
1%
Liver
1%
Gene Interaction Network
Click a node to explore
CNTN1PTPRZ2L1CAMNOTCH1DTX1PTPRZ1NOTCH2
PROTEIN STRUCTURE
Preparing viewer…
PDB3S97 Β· 2.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.43Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.32 [0.24–0.43]
RankingsWhere CNTN1 stands among ~20K protein-coding genes
  • #4,928of 20,598
    Most Researched97 Β· top quartile
  • #2,049of 5,498
    Most Pathogenic Variants23
  • #2,319of 17,882
    Most Constrained (LOEUF)0.43 Β· top quartile
Genes detectedCNTN1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mechanisms of Primary Membranous Nephropathy.
PMID: 33808418
Biomolecules Β· 2021
1.00
2
Membranous nephropathy-diagnosis and identification of target antigens.
PMID: 37863839
Nephrol Dial Transplant Β· 2024
0.90
3
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.80
4
Antigens in membranous nephropathy: discovery and clinical implications.
PMID: 40691733
Nat Rev Nephrol Β· 2025
0.70
5
Clinical relevance of distinguishing autoimmune nodopathies from CIDP: longitudinal assessment in a large cohort.
PMID: 37879898
J Neurol Neurosurg Psychiatry Β· 2023
0.60