• Gene id: 152330

Gene Summary

• Gene Symbol: CNTN4   Gene   UCSC   Ensembl
• Aliases: AXCAM, BIG-2
• Gene name: contactin 4
• Alternate names: contactin-4, axonal-associated cell adhesion molecule, brain-derived immunoglobulin superfamily protein 2, neural cell adhesion protein BIG-2,
• Gene location: 3p26.3-p26.2 (2098802: 3059079)     Exons: 34     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuron
• OMIM: 607280

Protein Summary

• Protein general information: Q8IWV2  
  • Name: Contactin 4 (Brain derived immunoglobulin superfamily protein 2) (BIG 2)
  • Length: 1026  
  • Mass: 113454
  • Tissue specificity: Mainly expressed in brain. Highly expressed in cerebellum and weakly expressed in corpus callosum, caudate nucleus, amygdala and spinal cord. Also expressed in testis, pancreas, thyroid, uterus, small intestine and kidney. Not expresse
• Sequence:

  MRLPWELLVLQSFILCLADDSTLHGPIFIQEPSPVMFPLDSEEKKVKLNCEVKGNPKPHIRWKLNGTDVDTGMDF
  RYSVVEGSLLINNPNKTQDAGTYQCTATNSFGTIVSREAKLQFAYLDNFKTRTRSTVSVRRGQGMVLLCGPPPHS
  GELSYAWIFNEYPSYQDNRRFVSQETGNLYIAKVEKSDVGNYTCVVTNTVTNHKVLGPPTPLILRNDGVMGEYEP
  KIEVQFPETVPTAKGATVKLECFALGNPVPTIIWRRADGKPIARKARRHKSNGILEIPNFQQEDAGLYECVAENS
  RGKNVARGQLTFYAQPNWIQKINDIHVAMEENVFWECKANGRPKPTYKWLKNGEPLLTRDRIQIEQGTLNITIVN
  LSDAGMYQCLAENKHGVIFSNAELSVIAVGPDFSRTLLKRVTLVKVGGEVVIECKPKASPKPVYTWKKGRDILKE
  NERITISEDGNLRIINVTKSDAGSYTCIATNHFGTASSTGNLVVKDPTRVMVPPSSMDVTVGESIVLPCQVTHDH
  SLDIVFTWSFNGHLIDFDRDGDHFERVGGQDSAGDLMIRNIQLKHAGKYVCMVQTSVDRLSAAADLIVRGPPGPP
  EAVTIDEITDTTAQLSWRPGPDNHSPITMYVIQARTPFSVGWQAVSTVPELIDGKTFTATVVGLNPWVEYEFRTV
  AANVIGIGEPSRPSEKRRTEEALPEVTPANVSGGGGSKSELVITWETVPEELQNGRGFGYVVAFRPYGKMIWMLT
  VLASADASRYVFRNESVHPFSPFEVKVGVFNNKGEGPFSPTTVVYSAEEEPTKPPASIFARSLSATDIEVFWASP
  LEKNRGRIQGYEVKYWRHEDKEENARKIRTVGNQTSTKITNLKGSVLYHLAVKAYNSAGTGPSSATVNVTTRKPP
  PSQPPGNIIWNSSDSKIILNWDQVKALDNESEVKGYKVLYRWNRQSSTSVIETNKTSVELSLPFDEDYIIEIKPF
  SDGGDGSSSEQIRIPKISNAYARGSGASTSNACTLSAISTIMISLTARSSL

• Structural information:
  • Protein Domains: (32..11-)
    1 (/note="Ig-like-C2-type)
    (122..20-)
    2 (/note="Ig-like-C2-type)
    (225..31-)
    3 (/note="Ig-like-C2-type)
    (316..40-)
    4 (/note="Ig-like-C2-type)
    (406..49-)
    5 (/note="Ig-like-C2-type)
    (497..58-)
    (/note="Ig-lik-)
  • Interpro: IPR033007  IPR003961  IPR036116  IPR007110  IPR036179   IPR013783  IPR013098  IPR003599  IPR003598  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • STRING: ENSP00000380602
• Other Databases: GeneCards:  CNTN4  Malacards:  CNTN4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070593	dendrite self-avoidance	IBA	biological process
GO:0030424	axon	IBA	cellular component
GO:0098632	cell-cell adhesion mediator activity	IBA	molecular function
GO:0007411	axon guidance	IBA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IBA	biological process
GO:0005886	plasma membrane	IBA	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:0005576	extracellular region	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007420	brain development	ISS	biological process
GO:0031175	neuron projection development	ISS	biological process
GO:0045665	negative regulation of neuron differentiation	IMP	biological process
GO:0007413	axonal fasciculation	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0007409	axonogenesis	TAS	biological process
GO:0007399	nervous system development	IMP	biological process
GO:0005886	plasma membrane	NAS	cellular component
GO:0048167	regulation of synaptic plasticity	TAS	biological process
GO:0030424	axon	NAS	cellular component
GO:0007158	neuron cell-cell adhesion	TAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray