• Gene id: 53942

Gene Summary

• Gene Symbol: CNTN5   Gene   UCSC   Ensembl
• Aliases: HNB-2s, NB-2
• Gene name: contactin 5
• Alternate names: contactin-5, neural adhesion molecule, neural recognition molecule NB-2,
• Gene location: 11q22.1 (99020903: 100358884)     Exons: 27     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membran
• OMIM: 607219

Protein Summary

• Protein general information: O94779  
  • Name: Contactin 5 (Neural recognition molecule NB 2) (hNB 2)
  • Length: 1100  
  • Mass: 120686
  • Tissue specificity: Expressed in brain and kidney and at very low level in placenta. Not expressed in other tissues. In brain, it is highly expressed in the occipital lobe, amygdala, cerebral cortex, frontal lobe, thalamus and temporal lobe. Expressed at
• Sequence:

  MASSWKLMLFLSVTMCLSEYSKSLPGLSTSYAALLRIKKSSSSSLFGSKTRPRYSSPSLGTLSASSPSWLGAAQN
  YYSPINLYHSSDAFKQDESVDYGPVFVQEPDDIIFPTDSDEKKVALNCEVRGNPVPSYRWLRNGTEIDLESDYRY
  SLIDGTFIISNPSEAKDSGHYQCLATNTVGSILSREATLQFAYLGNFSGRTRSAVSVREGQGVVLMCSPPPHSPE
  IIYSWVFNEFPSFVAEDSRRFISQETGNLYISKVQTSDVGSYICLVKNTVTNARVLSPPTPLTLRNDGVMGEYEP
  KIEVHFPFTVTAAKGTTVKMECFALGNPVPTITWMKVNGYIPSKARLRKSQAVLEIPNVQLDDAGIYECRAENSR
  GKNSFRGQLQVYTYPHWVEKLNDTQLDSGSPLRWECKATGKPRPTYRWLKNGVPLSPQSRVEMVNGVLMIHNVNQ
  SDAGMYQCLAENKYGAIYASAELKILASAPTFALNQLKKTIIVTKDQEVVIECKPQGSPKPTISWKKGDRAVREN
  KRIAILPDGSLRILNASKSDEGKYVCRGENVFGSAEIIASLSVKEPTRIELTPKRTELTVGESIVLNCKAIHDAS
  LDVTFYWTLKGQPIDFEEEGGHFESIRAQASSADLMIRNILLMHAGRYGCRVQTTADSVSDEAELLVRGPPGPPG
  IVIVEEITESTATLSWSPAADNHSPISSYNLQARSPFSLGWQTVKTVPEIITGDMESAMAVDLNPWVEYEFRVVA
  TNPIGTGDPSTPSRMIRTNEAVPKTAPTNVSGRSGRRHELVIAWEPVSEEFQNGEGFGYIVAFRPNGTRGWKEKM
  VTSSEASKFIYRDESVPPLTPFEVKVGVYNNKGDGPFSQIVVICSAEGEPSAAPTDVKATSVSVSEILVAWKHIK
  ESLGRPQGFEVGYWKDMEQEDTAETVKTRGNESFVILTGLEGNTLYHFTVRAYNGAGYGPPSSEVSATTKKSPPS
  QAPSNLRWEQQGSQVSLGWEPVIPLANESEVVGYKVFYRQEGHSNSQVIETQKLQAVVPLPDAGVYIIEVRAYSE
  GGDGTASSQIRVPSYSGGKITSAQSTLHSLSTSSSSVTLLLALMIPSTSW

• Structural information:
  • Protein Domains: (99..19-)
    1 (/note="Ig-like-C2-type)
    (196..28-)
    2 (/note="Ig-like-C2-type)
    (300..38-)
    3 (/note="Ig-like-C2-type)
    (390..47-)
    4 (/note="Ig-like-C2-type)
    (480..56-)
    5 (/note="Ig-like-C2-type)
    (571..66-)
    (/note="Ig-lik-)
  • Interpro: IPR032989  IPR003961  IPR036116  IPR007110  IPR036179   IPR013783  IPR013098  IPR003599  IPR003598  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 4N68 5E52
  • PDBsum: 4N68 5E52
  • STRING: ENSP00000435637
• Other Databases: GeneCards:  CNTN5  Malacards:  CNTN5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007155	cell adhesion	IEA	biological process
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0099054	presynapse assembly	IEA	biological process
GO:0099026	anchored component of presynaptic membrane	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq