Homo sapiens Protein: CNTN4
Summary
InnateDB Protein IDBP-360689.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CNTN4
Protein Name contactin 4
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000413642
InnateDB Gene IDBG-13493 (CNTN4)
Protein Structure
UniProt Annotation
Function Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis.
Subcellular Localization Cell membrane; Lipid-anchor, GPI-anchor. Secreted {ECO:0000250}.
Disease Associations Note=A chromosomal aberration involving CNTN4 has been found in a boy with characteristic physical features of 3p deletion syndrome (3PDS). Translocation t(3;10)(p26;q26). 3PDS is a rare contiguous gene disorder involving the loss of the telomeric portion of the short arm of chromosome 3 and characterized by developmental delay, growth retardation, and dysmorphic features.
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 expressed in skeletal muscle. Isoform 2 is weakly expressed in cerebral cortex. {ECO:0000269PubMed:11013081, ECO:0000269PubMed:14571131}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0007158 neuron cell-cell adhesion
GO:0007399 nervous system development
GO:0007409 axonogenesis
GO:0007411 axon guidance
GO:0007413 axonal fasciculation
GO:0007420 brain development
GO:0031175 neuron projection development
GO:0045665 negative regulation of neuron differentiation
GO:0048167 regulation of synaptic plasticity
Cellular Component
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0030424 axon
GO:0031225 anchored component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR003961 Fibronectin, type III
IPR007110 Immunoglobulin-like domain
IPR013098 Immunoglobulin I-set
IPR013106 Immunoglobulin V-set domain
IPR013151 Immunoglobulin
PFAM PF00041
PF01108
PF07679
PF07686
PF00047
PRINTS
PIRSF
SMART SM00408
SM00409
SM00060
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8IWV2
PhosphoSite PhosphoSite-Q8IWV2
TrEMBL G3XAD4
UniProt Splice Variant
Entrez Gene 152330
UniGene Hs.730404
RefSeq XP_006713066
HUGO HGNC:2174
OMIM 607280
CCDS CCDS43041
HPRD 16239
IMGT
EMBL AC018842 AC022002 AC022008 AC024057 AC026882 AC066608 AC087094 AC087427 AF464063 AF549455 AK314396 AY090737 BC026119 CH471055
GenPept AAH26119 AAM00025 AAN86141 AAP05786 BAG37020 EAW63874 EAW63875 EAW63877 EAW63878