InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CNTN4

Summary

InnateDB Protein

IDBP-235335.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CNTN4

Protein Name

contactin 4

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000380600

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