• Gene id: 27255

Gene Summary

• Gene Symbol: CNTN6   Gene   UCSC   Ensembl
• Aliases: NB3
• Gene name: contactin 6
• Alternate names: contactin-6, neural adhesion molecule, neural recognition molecule NB-3,
• Gene location: 3p26.3 (978020: 1404216)     Exons: 32     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 605223

Protein Summary

• Protein general information: Q9UQ52  
  • Name: Contactin 6 (Neural recognition molecule NB 3) (hNB 3)
  • Length: 1028  
  • Mass: 113956
  • 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:

  MRLLWKLVILLPLINSSAGDGLLSRPIFTQEPHDVIFPLDLSKSEVILNCAANGYPSPHYRWKQNGTDIDFTMSY
  HYRLDGGSLAINSPHTDQDIGMYQCLATNLLGTILSRKAKLQFAYIEDFETKTRSTVSVREGQGVVLLCGPPPHF
  GDLSYAWTFNDNPLYVQEDNRRFVSQETGNLYIAKVEPSDVGNYTCFITNKEAQRSVQGPPTPLVQRTDGVMGEY
  EPKIEVRFPETIQAAKDSSVKLECFALGNPVPDISWRRLDGSPLPGKVKYSKSQAILEIPNFQQEDEGFYECIAS
  NLRGRNLAKGQLIFYAPPEWEQKIQNTHLSIYDNLLWECKASGKPNPWYTWLKNGERLNPEERIQIENGTLIITM
  LNVSDSGVYQCAAENKYQIIYANAELRVLASAPDFSKSPVKKKSFVQVGGDIVIGCKPNAFPRAAISWKRGTETL
  RQSKRIFLLEDGSLKIYNITRSDAGSYTCIATNQFGTAKNTGSLIVKERTVITVPPSKMDVTVGESIVLPCQVSH
  DPSIEVVFVWFFNGDVIDLKKGVAHFERIGGESVGDLMIRNIQLHHSGKYLCTVQTTLESLSAVADIIVRGPPGP
  PEDVQVEDISSTTSQLSWRAGPDNNSPIQIFTIQTRTPFSVGWQAVATVPEILNGKTYNATVVGLSPWVEYEFRV
  VAGNSIGIGEPSEPSELLRTKASVPVVAPVNIHGGGGSRSELVITWESIPEELQNGEGFGYIIMFRPVGSTTWSK
  EKVSSVESSRFVYRNESIIPLSPFEVKVGVYNNEGEGSLSTVTIVYSGEDEPQLAPRGTSLQSFSASEMEVSWNA
  IAWNRNTGRVLGYEVLYWTDDSKESMIGKIRVSGNVTTKNITGLKANTIYFASVRAYNTAGTGPSSPPVNVTTKK
  SPPSQPPANIAWKLTNSKLCLNWEHVKTMENESEVLGYKILYRQNRQSKTHILETNNTSAELLVPFEEDYLIEIR
  TVSDGGDGSSSEEIRIPKMSSLSSRGIQFLEPSTHFLSIVIVIFHCFAIQPLI

• Structural information:
  • Protein Domains: (26..11-)
    1 (/note="Ig-like-C2-type)
    (122..20-)
    2 (/note="Ig-like-C2-type)
    (227..30-)
    3 (/note="Ig-like-C2-type)
    (318..40-)
    4 (/note="Ig-like-C2-type)
    (408..49-)
    5 (/note="Ig-like-C2-type)
    (499..58-)
    (/note="Ig-lik-)
  • Interpro: IPR033009  IPR003961  IPR036116  IPR007110  IPR036179   IPR013783  IPR013098  IPR003599  IPR003598  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • STRING: ENSP00000407822
• Other Databases: GeneCards:  CNTN6  Malacards:  CNTN6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IBA	biological process
GO:0007411	axon guidance	IBA	biological process
GO:0098632	cell-cell adhesion mediator activity	IBA	molecular function
GO:0030424	axon	IBA	cellular component
GO:0070593	dendrite self-avoidance	IBA	biological process
GO:0005112	Notch binding	IEA	molecular function
GO:0022008	neurogenesis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0098688	parallel fiber to Purkinje cell synapse	IEA	cellular component
GO:0045747	positive regulation of Notch signaling pathway	IEA	biological process
GO:0099026	anchored component of presynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray