CNTN1 (contactin 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1272
Gene name Gene Name - the full gene name approved by the HGNC.
Contactin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CNTN1
Synonyms (NCBI Gene) Gene synonyms aliases
CMYO12, CMYP12, F3, GP135, MYPCN
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMYO12
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21969550, 26721881
GO:0007155 Process Cell adhesion IEA
GO:0007219 Process Notch signaling pathway IEA
GO:0010628 Process Positive regulation of gene expression IEA
GO:0010765 Process Positive regulation of sodium ion transport IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600016 2171 ENSG00000018236
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Akinesia Akinesia rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335
View all (33 more)
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Congenital myopathy Myopathy, Congenital, Compton-North rs80358247, rs199474720, rs80358248, rs121964852, rs199474719, rs121964853, rs121964854, rs104894129, rs137853306, rs199476153, rs199476147, rs137853307, rs28930068, rs121909519, rs121909521
View all (43 more)		 19026398, 22242131
Hypotonia Neonatal Hypotonia rs141138948, rs397517172, rs869312824, rs1583169151
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Myopathy Compton-North congenital myopathy GenCC
Bipolar Disorder Bipolar Disorder GWAS
Show/Hide Text Mining Associations (48)
Associations from Text Mining
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