InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CNTNAP2

Summary

InnateDB Protein

IDBP-46793.6

Last Modified

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

Gene Symbol

CNTNAP2

Protein Name

contactin associated protein-like 2

Synonyms

AUTS15; CASPR2; CDFE; NRXN4; PTHSL1;

Species

Homo sapiens

Ensembl Protein

ENSP00000354778

InnateDB Gene

IDBG-46789 (CNTNAP2)

Protein Structure

UniProt Annotation

Function

May play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Seems to demarcate the juxtaparanodal region of the axo-glial junction.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.

Disease Associations

Cortical dysplasia-focal epilepsy syndrome (CDFES) [MIM:610042]: A disease characterized by cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation develop. {ECO:0000269PubMed:16571880}. Note=The disease is caused by mutations affecting the gene represented in this entry.Autism 15 (AUTS15) [MIM:612100]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Note=A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder. Paracentric inversion 46,XY,inv(7)(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2.

Tissue Specificity

Predominantly expressed in nervous system.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.

Experimentally validated
Total	11 [view]
Protein-Protein	10 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0019899	enzyme binding

Biological Process

GO:0007155	cell adhesion
GO:0007420	brain development
GO:0007612	learning
GO:0008038	neuron recognition
GO:0019226	transmission of nerve impulse
GO:0021756	striatum development
GO:0021761	limbic system development
GO:0021794	thalamus development
GO:0021987	cerebral cortex development
GO:0030534	adult behavior
GO:0031175	neuron projection development
GO:0034613	cellular protein localization
GO:0035176	social behavior
GO:0045163	clustering of voltage-gated potassium channels
GO:0071109	superior temporal gyrus development
GO:0071205	protein localization to juxtaparanode region of axon
GO:0071625	vocalization behavior

Cellular Component

GO:0005769	early endosome
GO:0005794	Golgi apparatus
GO:0008076	voltage-gated potassium channel complex
GO:0009986	cell surface
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030424	axon
GO:0030425	dendrite
GO:0030673	axolemma
GO:0043025	neuronal cell body
GO:0043204	perikaryon
GO:0044224	juxtaparanode region of axon

Protein Structure and Domains

PDB ID

InterPro

IPR000421 Coagulation factor 5/8 C-terminal type domain
IPR000742 Epidermal growth factor-like domain
IPR001791 Laminin G domain
IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
IPR003585 Neurexin/syndecan/glycophorin C
IPR008979 Galactose-binding domain-like
IPR008985 Concanavalin A-like lectin/glucanases superfamily

PFAM

PF00754
PF00008
PF00054
PF02210
PF00147

PRINTS

PIRSF

SMART

SM00231
SM00181
SM00210
SM00282
SM00186
SM00294

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9UHC6