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
Show/Hide all (5)
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
Show/Hide all (29)
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (14 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (24)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER'S DISEASE NEUROPATHOLOGIC CHANGE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (88)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 16510572
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16510572, 25960233, 28934754
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 26539667
★★★★★
★☆☆☆☆
Found in Text Mining only
Akinesia Akinesia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arachnodactyly Arachnodactyly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 30770760
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 30770760 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis multiplex congenita BEFREE 28254648
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 26497896 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ataxia Ataxia Pubtator 19026398, 34429341, 36932648 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only