• Gene id: 5067

Gene Summary

• Gene Symbol: CNTN3   Gene   UCSC   Ensembl
• Aliases: BIG-1, PANG, PCS
• Gene name: contactin 3
• Alternate names: contactin-3, brain-derived immunoglobulin superfamily protein 1, contactin 3 (plasmacytoma associated), plasmacytoma-associated neuronal glycoprotein,
• Gene location: 3p12.3 (74614447: 74262567)     Exons: 27     NC_000003.12
• OMIM: 610782

Protein Summary

• Protein general information: Q9P232  
  • Name: Contactin 3 (Brain derived immunoglobulin superfamily protein 1) (BIG 1) (Plasmacytoma associated neuronal glycoprotein)
  • Length: 1028  
  • Mass: 112883
  • Tissue specificity: In brain, it is expressed in frontal lobe, occipital lobe, cerebellum and amygdala. {ECO
• Sequence:

  MMFPWKQLILLSFIGCLGGELLLQGPVFIKEPSNSIFPVGSEDKKITLHCEARGNPSPHYRWQLNGSDIDMSMEH
  RYKLNGGNLVVINPNRNWDTGTYQCFATNSLGTIVSREAKLQFAYLENFKTKMRSTVSVREGQGVVLLCGPPPHS
  GELSYAWIFNEYPSFVEEDSRRFVSQETGHLYISKVEPSDVGNYTCVVTSMVTNARVLGSPTPLVLRSDGVMGEY
  EPKIEVQFPETLPAAKGSTVKLECFALGNPIPQINWRRSDGLPFSSKIKLRKFSGVLEIPNFQQEDAGSYECIAE
  NSRGKNVARGRLTYYAKPHWVQLIKDVEIAVEDSLYWECRASGKPKPSYRWLKNGAALVLEERTQIENGALTISN
  LSVTDSGMFQCIAENKHGLVYSSAELKVVASAPDFSKNPMKKLVQVQVGSLVSLDCKPRASPRALSSWKKGDVSV
  QEHERISLLNDGGLKIANVTKADAGTYTCMAENQFGKANGTTHLVVTEPTRITLAPSNMDVSVGESVILPCQVQH
  DPLLDIIFTWYFNGALADFKKDGSHFEKVGGSSSGDLMIRNIQLKHSGKYVCMVQTGVDSVSSAADLIVRGSPGP
  PENVKVDEITDTTAQLSWKEGKDNHSPVISYSIQARTPFSVGWQTVTTVPEVIDGKTHTATVVELNPWVEYEFRV
  VASNKIGGGEPSLPSEKVRTEEAVPEVPPSEVNGGGGSRSELVITWDPVPEELQNGEGFGYVVAFRPLGVTTWIQ
  TVVTSPDTPRYVFRNESIVPYSPYEVKVGVYNNKGEGPFSPVTTVFSAEEEPTVAPSQVSANSLSSSEIEVSWNT
  IPWKLSNGHLLGYEVRYWNGGGKEESSSKMKVAGNETSARLRGLKSNLAYYTAVRAYNSAGAGPFSATVNVTTKK
  TPPSQPPGNVVWNATDTKVLLNWEQVKAMENESEVTGYKVFYRTSSQNNVQVLNTNKTSAELVLPIKEDYIIEVK
  ATTDGGDGTSSEQIRIPRITSMDARGSTSAISNVHPMSSYMPIVLFLIVYVLW

• Structural information:
  • Protein Domains: (26..11-)
    1 (/note="Ig-like-C2-type)
    (122..20-)
    2 (/note="Ig-like-C2-type)
    (227..31-)
    3 (/note="Ig-like-C2-type)
    (318..40-)
    4 (/note="Ig-like-C2-type)
    (408..49-)
    5 (/note="Ig-like-C2-type)
    (499..59-)
    (/note="Ig-lik-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 1WJ3
  • PDBsum: 1WJ3
  • STRING: ENSP00000263665
• Other Databases: GeneCards:  CNTN3  Malacards:  CNTN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043005	neuron projection	IBA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Azoospermia	MIK: 19478329
Oligozoospermia	MIK: 19478329

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19478329	Azoospermia, Oligozoospermia	rs11707608, rs2976084	Caucasi an	41 cases	Male infertility	GWAS