• Gene id: 85445

Gene Summary

• Gene Symbol: CNTNAP4   Gene   UCSC   Ensembl
• Aliases: CASPR4
• Gene name: contactin associated protein family member 4
• Alternate names: contactin-associated protein-like 4, cell recognition molecule Caspr4, contactin associated protein like 4,
• Gene location: 16q23.1 (76277375: 76563609)     Exons: 29     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein contains epidermal growth factor repeats and laminin G domains. In addition,
• OMIM: 610493

Protein Summary

• Protein general information: Q9C0A0  
  • Name: Contactin associated protein like 4 (Cell recognition molecule Caspr4)
  • Length: 1308  
  • Mass: 145274
• Sequence:

  MGSVTGAVLKTLLLLSTQNWNRVEAGNSYDCDDPLVSALPQASFSSSSELSSSHGPGFARLNRRDGAGGWSPLVS
  NKYQWLQIDLGERMEVTAVATQGGYGSSNWVTSYLLMFSDSGWNWKQYRQEDSIWGFSGNANADSVVYYRLQPSI
  KARFLRFIPLEWNPKGRIGMRIEVFGCAYRSEVVDLDGKSSLLYRFDQKSLSPIKDIISLKFKTMQSDGILLHRE
  GPNGDHITLQLRRARLFLLINSGEAKLPSTSTLVNLTLGSLLDDQHWHSVLIQRLGKQVNFTVDEHRHHFHARGE
  FNLMNLDYEISFGGIPAPGKSVSFPHRNFHGCLENLYYNGVDIIDLAKQQKPQIIAMGNVSFSCSQPQSMPVTFL
  SSRSYLALPDFSGEEEVSATFQFRTWNKAGLLLFSELQLISGGILLFLSDGKLKSNLYQPGKLPSDITAGVELND
  GQWHSVSLSAKKNHLSVAVDGQMASAAPLLGPEQIYSGGTYYFGGCPDKSFGSKCKSPLGGFQGCMRLISISGKV
  VDLISVQQGSLGNFSDLQIDSCGISDRCLPNYCEHGGECSQSWSTFHCNCTNTGYRGATCHNSIYEQSCEAYKHR
  GNTSGFYYIDSDGSGPLEPFLLYCNMTETAWTIIQHNGSDLTRVRNTNPENPYAGFFEYVASMEQLQATINRAEH
  CEQEFTYYCKKSRLVNKQDGTPLSWWVGRTNETQTYWGGSSPDLQKCTCGLEGNCIDSQYYCNCDADRNEWTNDT
  GLLAYKEHLPVTKIVITDTGRLHSEAAYKLGPLLCQGDRSFWNSASFDTEASYLHFPTFHGELSADVSFFFKTTA
  SSGVFLENLGIADFIRIELRSPTVVTFSFDVGNGPFEISVQSPTHFNDNQWHHVRVERNMKEASLQVDQLTPKTQ
  PAPADGHVLLQLNSQLFVGGTATRQRGFLGCIRSLQLNGMTLDLEERAQVTPEVQPGCRGHCSSYGKLCRNGGKC
  RERPIGFFCDCTFSAYTGPFCSNEISAYFGSGSSVIYNFQENYLLSKNSSSHAASFHGDMKLSREMIKFSFRTTR
  TPSLLLFVSSFYKEYLSVIIAKNGSLQIRYKLNKYQEPDVVNFDFKNMADGQLHHIMINREEGVVFIEIDDNRRR
  QVHLSSGTEFSAVKSLVLGRILEHSDVDQDTALAGAQGFTGCLSAVQLSHVAPLKAALHPSHPDPVTVTGHVTES
  SCMAQPGTDATSRERTHSFADHSGTIDDREPLANAIKSDSAVIGGLIAVVIFILLCITAIAVRIYQQKRLYKRSE
  AKRSENVDSAEAVLKSELNIQNAVNENQKEYFF

• Structural information:
  • Protein Domains: (31..17-)
    C (/note="F5/8-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00081-)
    (212..36-)
    1 (/note="Laminin-G-like)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00122-)
    (398..54-)
    2 (/note="Laminin-G-like)
    (/evidence="ECO:0000255|PRO-)
  • Interpro: IPR028875  IPR013320  IPR000742  IPR000421  IPR036056   IPR002181  IPR008979  IPR001791  
  • Prosite: PS50026 PS01285 PS01286 PS50022 PS51406 PS50025
  • CDD: cd00057
  • PDB: 4NXQ
  • PDBsum: 4NXQ
  • DIP: 31652
  • STRING: ENSP00000479811
• Other Databases: GeneCards:  CNTNAP4  Malacards:  CNTNAP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042734	presynaptic membrane	ISS	cellular component
GO:0032228	regulation of synaptic transmission, GABAergic	ISS	biological process
GO:0032225	regulation of synaptic transmission, dopaminergic	ISS	biological process
GO:2000821	regulation of grooming behavior	ISS	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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