CNTN4
Contactin-4
Also known as: BIG-2, CNTN4_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IWV2
- Gene
- CNTN4
- Ensembl
- ENSG00000144619
- Chromosome
- 3
- Canonical length
- 1026 aa
- Protein class
- Disease related genes, Plasma proteins, Predicted intracellular proteins
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
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 neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
Canonical amino-acid sequenceUniProt
1026 residues, UniProt reviewed canonical sequence.
>Q8IWV2|CNTN4
1 MRLPWELLVL QSFILCLADD STLHGPIFIQ EPSPVMFPLD SEEKKVKLNC EVKGNPKPHI
61 RWKLNGTDVD TGMDFRYSVV EGSLLINNPN KTQDAGTYQC TATNSFGTIV SREAKLQFAY
121 LDNFKTRTRS TVSVRRGQGM VLLCGPPPHS GELSYAWIFN EYPSYQDNRR FVSQETGNLY
181 IAKVEKSDVG NYTCVVTNTV TNHKVLGPPT PLILRNDGVM GEYEPKIEVQ FPETVPTAKG
241 ATVKLECFAL GNPVPTIIWR RADGKPIARK ARRHKSNGIL EIPNFQQEDA GLYECVAENS
301 RGKNVARGQL TFYAQPNWIQ KINDIHVAME ENVFWECKAN GRPKPTYKWL KNGEPLLTRD
361 RIQIEQGTLN ITIVNLSDAG MYQCLAENKH GVIFSNAELS VIAVGPDFSR TLLKRVTLVK
421 VGGEVVIECK PKASPKPVYT WKKGRDILKE NERITISEDG NLRIINVTKS DAGSYTCIAT
481 NHFGTASSTG NLVVKDPTRV MVPPSSMDVT VGESIVLPCQ VTHDHSLDIV FTWSFNGHLI
541 DFDRDGDHFE RVGGQDSAGD LMIRNIQLKH AGKYVCMVQT SVDRLSAAAD LIVRGPPGPP
601 EAVTIDEITD TTAQLSWRPG PDNHSPITMY VIQARTPFSV GWQAVSTVPE LIDGKTFTAT
661 VVGLNPWVEY EFRTVAANVI GIGEPSRPSE KRRTEEALPE VTPANVSGGG GSKSELVITW
721 ETVPEELQNG RGFGYVVAFR PYGKMIWMLT VLASADASRY VFRNESVHPF SPFEVKVGVF
781 NNKGEGPFSP TTVVYSAEEE PTKPPASIFA RSLSATDIEV FWASPLEKNR GRIQGYEVKY
841 WRHEDKEENA RKIRTVGNQT STKITNLKGS VLYHLAVKAY NSAGTGPSSA TVNVTTRKPP
901 PSQPPGNIIW NSSDSKIILN WDQVKALDNE SEVKGYKVLY RWNRQSSTSV IETNKTSVEL
961 SLPFDEDYII EIKPFSDGGD GSSSEQIRIP KISNAYARGS GASTSNACTL SAISTIMISL
1021 TARSSLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CNTN4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 21 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 21 nTPM
- retina: 18 nTPM
- blood vessel: 14 nTPM
- testis: 13 nTPM
- thyroid gland: 9.6 nTPM
- cervix: 8.1 nTPM
Single-cell type
- retinal horizontal cells: 2,342 nCPM
- pituitary stem cells: 2,323 nCPM
- lactotrophs: 1,421 nCPM
- retinal bipolar cells: 1,298 nCPM
- pituicytes/fscs: 1,263 nCPM
- medullary thymic epithelial cells: 1,025 nCPM
Immune cell
- basophil: 0.2 nTPM
- neutrophil: 0.1 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- cerebellum: 47 nTPM
- cerebral cortex: 45 nTPM
- thalamus: 34 nTPM
- white matter: 27 nTPM
- midbrain: 26 nTPM
- basal ganglia: 25 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.52
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.57
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- axon guidance
- axonal fasciculation
- axonogenesis
- brain development
- dendrite self-avoidance
- homophilic cell adhesion via plasma membrane adhesion molecules
- negative regulation of neuron differentiation
- nervous system development
- neuron cell-cell adhesion
- neuron projection development
- regulation of synaptic plasticity
- synapse organization
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Immunoglobulin subtype 2
- Immunoglobulin domain subtype
- Fibronectin type III
- Immunoglobulin-like domain
- Immunoglobulin I-set
- Immunoglobulin-like fold
- Fibronectin type III superfamily
- Immunoglobulin-like domain superfamily
- Fibronectin type III domain
- Immunoglobulin I-set domain
- Immunoglobulin domain
- Contactin-4, Ig6
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CNTN4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CNTN4 as an antibody target. Whether an autoantibody or antibody against CNTN4 could matter depends on whether native CNTN4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CNTN4 is annotated at the cell surface, where native CNTN4 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CNTN4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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