CNTN1 (contactin 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1272
Gene name Contactin 1
Gene symbol CNTN1
Synonyms (NCBI Gene)
CMYO12CMYP12F3GP135MYPCN
Chromosome 12
Chromosome location 12q12
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 connectio
SNPs SNP information provided by dbSNP.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
SNP ID Visualize variation Clinical significance Consequence
rs587776718 ->T Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs753826693 C>A,T Likely-pathogenic Stop gained, non coding transcript variant, synonymous variant, coding sequence variant
rs1555185778 G>A Likely-pathogenic Splice donor variant
rs1555201480 G>T Pathogenic Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1565946117 ->T Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT901615 hsa-miR-4264 CLIP-seq
MIRT901616 hsa-miR-4704-3p CLIP-seq
MIRT901617 hsa-miR-548n CLIP-seq
MIRT901618 hsa-miR-548t CLIP-seq
MIRT901619 hsa-miR-561 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21969550, 26721881
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0007155 Process Cell adhesion IEA
GO:0007155 Process Cell adhesion NAS 7959734
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600016 2171 ENSG00000018236
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12860
Protein name Contactin-1 (Glycoprotein gp135) (Neural cell surface protein F3)
Protein function Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its ass
PDB 2EE2 , 3S97
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13927 Ig_3 41 → 118 Domain
PF07679 I-set 242 → 327 Immunoglobulin I-set domain Domain
PF13927 Ig_3 331 → 395 Domain
PF07679 I-set 413 → 501 Immunoglobulin I-set domain Domain
PF13927 Ig_3 505 → 587 Domain
PF00041 fn3 605 → 693 Fibronectin type III domain Domain
PF00041 fn3 708 → 796 Fibronectin type III domain Domain
PF00041 fn3 810 → 893 Fibronectin type III domain Domain
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of expression in lung, pancreas, kidney and skeletal muscle. {ECO:0000269|PubMed:2026173, ECO:0000269|PubMed:8164510}.
Sequence 
MKMWLLVSHLVIISITTCLAEFTWYRRYGHGVSEEDKGFGPIFEEQPINTIYPEESLEGK
VSLNCRARASPFPVYKWRMNNGDVDLTSDRYSMVGGNLVINNPDKQKDAGIYYCLASNNY
GMVRSTEATLSFGYLDPFPPEERPEVRVKEGKGMVLLCDPPYHFPDDLSYRWLLNEFPVF
ITMDKRRFVSQTNGNLYIANVEASDKGNYSCFVSSPSITKSVFSKFIPLIPIPERTTKPY
PADIVVQFKDVYALMGQNVTLECFALGNPVPDIRWRKVLEPMPSTAEISTSGAVLKIFNI
QLEDEGIYECEAENIRGKDKHQARIYVQAFPEWVEHINDTEVDIGSDLYWPCVATGKPIP
TIRWLKNGYAYHKGELRLYDVTFENAGMYQCIAENTYGAIYANAELKILALAPTFEMNPM
KKKILAAKGGRVIIECKPKAAPKPKFSWSKGTEWLVNSSRILIWEDGSLEINNITRNDGG
IYTCFAENNRGKANSTGTLVITDPTRIILAPINADITVGENATMQCAASFDPALDLTFVW
SFNGYVIDFNKENIHYQRNFMLDSNGELLIRNAQLKHAGRYTCTAQTIVDNSSASADLVV
RGPPGPPGGLRIEDIRATSVALTWSRGSDNHSPISKYTIQTKTILSDDWKDAKTDPPIIE
GNMEAARAVDLIPWMEYEFRVVATNTLGRGEPSIPSNRIKTDGAAPNVAPSDVGGGGGRN
RELTITWAPLSREYHYGNNFGYIVAFKPFDGEEWKKVTVTNPDTGRYVHKDETMSPSTAF
QVKVKAFNNKGDGPYSLVAVINSAQDAPSEAPTEVGVKVLSSSEISVHWEHVLEKIVESY
QIRYWAAHDKEEAANRVQVTSQEYSARLENLLPDTQYFIEVGACNSAGCGPPSDMIEAFT
KKAPPSQPPRIISSVRSGSRYIITWDHVVALSNESTVTGYKVLYRPDGQHDGKLYSTHKH
SIEVPIPRDGEYVVEVRAHSDGGDGVVSQVKISGAPTLSPSLLGLLLPAFGILVYLEF
Sequence length 1018
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Cell adhesion molecules  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
512
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Compton-North congenital myopathy Pathogenic; Likely pathogenic rs2136817458, rs2120819481, rs2120818344, rs2136952659, rs2499717946, rs2499488629, rs756907367, rs587776718, rs2499292213, rs374930846, rs1174434961, rs1410982143, rs2499432719, rs1555185778, rs1555201269
View all (4 more)		 RCV001981916
RCV001942255
RCV002033339
RCV001985084
RCV002949395
RCV002999441
RCV003051748
RCV000010147
RCV003623600
RCV003623750
RCV003622204
RCV003851074
RCV003859142
RCV000539454
RCV000526899
RCV000645985
RCV000689042
RCV000811108
RCV000807301
Show/Hide Unknown Diseases (10)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs397967 RCV005922965
Cholangiocarcinoma Benign rs10784981 RCV005892509
CNTN1-related disorder Benign; Likely benign rs200022020, rs373160695, rs2499347815, rs1948731966, rs2499751288, rs148453314, rs760650497, rs201595623 RCV003931128
RCV004758896
RCV003981445
RCV003951549
RCV003962200
RCV003980252
RCV003955543
RCV003930430
Gastric cancer Likely benign rs34601389 RCV005905577
Show/Hide Text Mining Associations (48)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Associate 30770760
Astrocytoma Associate 26497896
Ataxia Associate 19026398, 34429341, 36932648
Autoimmune Diseases Associate 36932648
Autonomic Nervous System Diseases Associate 36932648
Brain Damage Chronic Associate 26539667
Breast Neoplasms Associate 33578925
Carcinoma Lewis Lung Associate 32806791
Carcinoma Non Small Cell Lung Associate 33860055
Carcinoma Renal Cell Associate 33578925