CNTN6 (contactin 6)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 27255
Gene name Contactin 6
Gene symbol CNTN6
Synonyms (NCBI Gene)
NB3
Chromosome 3
Chromosome location 3p26.3
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.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs773080572 C>A Likely-pathogenic Coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, stop gained
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT901723 hsa-miR-3160-5p CLIP-seq
MIRT901724 hsa-miR-607 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 Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0007155 Process Cell adhesion IEA
GO:0007155 Process Cell adhesion TAS 9486763
GO:0007156 Process Homophilic cell adhesion via plasma membrane adhesion molecules IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607220 2176 ENSG00000134115
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UQ52
Protein name Contactin-6 (Neural recognition molecule NB-3) (hNB-3)
Protein function Contactins mediate cell surface interactions during nervous system development. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intrac
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13927 Ig_3 25 → 104 Domain
PF13927 Ig_3 124 → 200 Domain
PF13927 Ig_3 226 → 301 Domain
PF07679 I-set 318 → 403 Immunoglobulin I-set domain Domain
PF07679 I-set 408 → 496 Immunoglobulin I-set domain Domain
PF13927 Ig_3 501 → 580 Domain
PF00041 fn3 599 → 687 Fibronectin type III domain Domain
PF00041 fn3 804 → 891 Fibronectin type III domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in nervous system. Highly expressed in cerebellum. Expressed at intermediate level in thalamus, subthalamic nucleus. Weakly expressed in corpus callosum, caudate nucleus and spinal cord.
Sequence 
MRLLWKLVILLPLINSSAGDGLLSRPIFTQEPHDVIFPLDLSKSEVILNCAANGYPSPHY
RWKQNGTDIDFTMSYHYRLDGGSLAINSPHTDQDIGMYQCLATNLLGTILSRKAKLQFAY
IEDFETKTRSTVSVREGQGVVLLCGPPPHFGDLSYAWTFNDNPLYVQEDNRRFVSQETGN
LYIAKVEPSDVGNYTCFITNKEAQRSVQGPPTPLVQRTDGVMGEYEPKIEVRFPETIQAA
KDSSVKLECFALGNPVPDISWRRLDGSPLPGKVKYSKSQAILEIPNFQQEDEGFYECIAS
NLRGRNLAKGQLIFYAPPEWEQKIQNTHLSIYDNLLWECKASGKPNPWYTWLKNGERLNP
EERIQIENGTLIITMLNVSDSGVYQCAAENKYQIIYANAELRVLASAPDFSKSPVKKKSF
VQVGGDIVIGCKPNAFPRAAISWKRGTETLRQSKRIFLLEDGSLKIYNITRSDAGSYTCI
ATNQFGTAKNTGSLIVKERTVITVPPSKMDVTVGESIVLPCQVSHDPSIEVVFVWFFNGD
VIDLKKGVAHFERIGGESVGDLMIRNIQLHHSGKYLCTVQTTLESLSAVADIIVRGPPGP
PEDVQVEDISSTTSQLSWRAGPDNNSPIQIFTIQTRTPFSVGWQAVATVPEILNGKTYNA
TVVGLSPWVEYEFRVVAGNSIGIGEPSEPSELLRTKASVPVVAPVNIHGGGGSRSELVIT
WESIPEELQNGEGFGYIIMFRPVGSTTWSKEKVSSVESSRFVYRNESIIPLSPFEVKVGV
YNNEGEGSLSTVTIVYSGEDEPQLAPRGTSLQSFSASEMEVSWNAIAWNRNTGRVLGYEV
LYWTDDSKESMIGKIRVSGNVTTKNITGLKANTIYFASVRAYNTAGTGPSSPPVNVTTKK
SPPSQPPANIAWKLTNSKLCLNWEHVKTMENESEVLGYKILYRQNRQSKTHILETNNTSA
ELLVPFEEDYLIEIRTVSDGGDGSSSEEIRIPKMSSLSSRGIQFLEPSTHFLSIVIVIFH
CFAIQPLI
Sequence length 1028
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely pathogenic rs1336350265 RCV002465064
Autistic behavior Likely pathogenic rs773080572 RCV000663360
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CNTN6-related disorder Uncertain significance; Likely benign; Benign rs764715506, rs147701168, rs2092759452, rs1443908733, rs757222881, rs137989555, rs137876595, rs139645898, rs1692780862, rs151334132, rs200347218, rs17038365, rs191600695, rs115904769, rs377237687
View all (11 more)		 RCV004750857
RCV003420803
RCV003399970
RCV003408444
RCV003412242
RCV003919179
RCV003929124
RCV003931358
RCV003896668
RCV003923963
RCV003974155
RCV003982485
RCV003931628
RCV003939590
RCV003921962
RCV003932205
RCV003952275
RCV003981802
RCV003962283
RCV003925987
RCV003915979
RCV003972858
RCV003983253
RCV003930703
RCV003908399
RCV003926049
Gastric cancer Benign rs61739199 RCV005907926
Malignant tumor of esophagus Benign rs61739199 RCV005907923
Nonpapillary renal cell carcinoma Benign rs61739199 RCV005907924
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alcoholism Associate 22205951
Autism Spectrum Disorder Associate 27166760
Autistic Disorder Associate 27166760
Bipolar Disorder Associate 22205951
Corneal dystrophy and perceptive deafness Associate 27166760
Developmental Disabilities Associate 31518906
Huntington Disease Associate 33049985
Hyperacusis Associate 27166760
Intellectual Disability Associate 31518906, 31678775
Lupus Erythematosus Systemic Associate 24871463