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contactin associated protein 2

Summary

Gene Symbol

CNTNAP2

Organism

Homo sapiens (human)

External Links

NCBI Gene

26047

PubChem

26047

Alliance of Genome Resources

HGNC:13830

Annotation

Keyword

3D-structure
Alternative splicing
Autism
Cell adhesion
Cell junction
Cell projection
Chromosomal rearrangement
Disulfide bond
EGF-like domain
Epilepsy
Glycoprotein
Intellectual disability
Phosphoprotein
Reference proteome
Repeat
Signal
Transmembrane helix

Proteins

Displaying **all 3** entries
UniProt	Protein Name
Q9UHC6	Cell recognition molecule Caspr2
A0A090N7T7
B2RCH4

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 21 in total

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GO Term	Evidence Code	PMID
transmission of nerve impulse	NAS	11352571
positive regulation of gap junction assembly	IMP	33238150
adult behavior	IMP	18179893
cell population proliferation	IDA	29028946
neuron projection morphogenesis	ISS

GO Hierarchy

biological process

cellular process [inference]

cell adhesion

cell recognition [inference]

neuron recognition

cell population proliferation

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to axon [inference]

protein localization to juxtaparanode region of axon

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cell projection organization [inference]

cell projection morphogenesis [inference]

plasma membrane bounded cell projection morphogenesis [inference]

neuron projection morphogenesis

plasma membrane bounded cell projection organization [inference]

neuron projection development

membrane organization [inference]

neuronal ion channel clustering [inference]

clustering of voltage-gated potassium channels

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

transmission of nerve impulse

cognition [inference]

learning or memory [inference]

learning

observational learning [inference]

imitative learning [inference]

vocal learning

learned vocalization behavior or vocal learning [inference]

vocal learning

behavior [inference]

learning or memory [inference]

learning

observational learning [inference]

imitative learning [inference]

vocal learning

learned vocalization behavior or vocal learning [inference]

vocal learning

mechanosensory behavior [inference]

auditory behavior [inference]

vocal learning

developmental process [inference]

anatomical structure morphogenesis [inference]

cellular anatomical entity morphogenesis [inference]

cell projection morphogenesis [inference]

plasma membrane bounded cell projection morphogenesis [inference]

neuron projection morphogenesis

anatomical structure development [inference]

animal organ development [inference]

brain development

system development [inference]

limbic system development

superior temporal gyrus development

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to axon [inference]

protein localization to juxtaparanode region of axon

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to axon [inference]

protein localization to juxtaparanode region of axon

biological process involved in intraspecies interaction between organisms [inference]

social behavior

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cellular component biogenesis [inference]

positive regulation of cell junction assembly [inference]

positive regulation of gap junction assembly

positive regulation of cellular component organization [inference]

positive regulation of cell junction assembly [inference]

positive regulation of gap junction assembly

negative regulation of biological process [inference]

negative regulation of response to stimulus [inference]

negative regulation of response to external stimulus [inference]

prepulse inhibition

regulation of response to stimulus [inference]

regulation of response to external stimulus [inference]

negative regulation of response to external stimulus [inference]

prepulse inhibition

negative regulation of response to stimulus [inference]

negative regulation of response to external stimulus [inference]

prepulse inhibition

regulation of cellular process [inference]

regulation of cellular component biogenesis [inference]

positive regulation of cellular component biogenesis [inference]

positive regulation of cell junction assembly [inference]

positive regulation of gap junction assembly

regulation of cell junction assembly [inference]

positive regulation of cell junction assembly [inference]

positive regulation of gap junction assembly

regulation of gap junction assembly [inference]

positive regulation of gap junction assembly

positive regulation of cellular process [inference]

positive regulation of cellular component biogenesis [inference]

positive regulation of cell junction assembly [inference]

positive regulation of gap junction assembly

positive regulation of cellular component organization [inference]

positive regulation of cell junction assembly [inference]

positive regulation of gap junction assembly

regulation of cellular component organization [inference]

positive regulation of cellular component organization [inference]

positive regulation of cell junction assembly [inference]

positive regulation of gap junction assembly

regulation of cell junction assembly [inference]

positive regulation of cell junction assembly [inference]

positive regulation of gap junction assembly

regulation of gap junction assembly [inference]

positive regulation of gap junction assembly

Displaying entries **1 - 5** of 17 in total

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GO Term	Evidence Code	PMID
voltage-gated potassium channel complex	IDA NAS	10624965
paranode region of axon	IEA
membrane	IDA NAS	10624965 11352571
early endosome	IDA	19706678
juxtaparanode region of axon	ISS

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

plasma membrane protein complex [inference]

voltage-gated potassium channel complex

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

cation channel complex [inference]

potassium channel complex [inference]

voltage-gated potassium channel complex

transporter complex [inference]

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

cation channel complex [inference]

potassium channel complex [inference]

voltage-gated potassium channel complex

cellular anatomical entity [inference]

cell surface

membrane

plasma membrane region [inference]

cell projection membrane [inference]

neuron projection membrane [inference]

axolemma

synaptic membrane

presynaptic membrane

cell junction [inference]

synapse [inference]

anchoring junction [inference]

cell-cell junction [inference]

paranodal junction

leading edge membrane [inference]

neuron projection membrane [inference]

axolemma

paranode region of axon

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

perikaryon

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

early endosome

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

early endosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

early endosome

juxtaparanode region of axon

cell body [inference]

neuronal cell body

Displaying **all 4** entries
GO Term	Evidence Code	PMID
protein binding	IPI	22872700 25416956 26721881 32296183
enzyme binding	IPI	19166515
protease binding	IEA
transmembrane transporter binding	IEA

GO Hierarchy

protease binding

transmembrane transporter binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Phosphopantetheinyl transferase

Functional Category

G: Carbohydrate transport and metabolism
M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
lysine biosynthetic process via aminoadipic acid
magnesium ion binding

Disease

Disease Ontology

Displaying entries **1 - 10** of 14 in total

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DO ID	Disease Name	Source
DOID:0060041	autism spectrum disorder	Alliance of Genome Resources
DOID:0060244	specific language impairment	Alliance of Genome Resources
DOID:0060308	autosomal recessive intellectual developmental disorder	Alliance of Genome Resources
DOID:0060488	Pitt-Hopkins syndrome	Alliance of Genome Resources
DOID:0090130	cortical dysplasia-focal epilepsy syndrome	Alliance of Genome Resources
DOID:1059	intellectual disability	Alliance of Genome Resources
DOID:11257	social phobia	Alliance of Genome Resources
DOID:11832	visual epilepsy	Alliance of Genome Resources
DOID:12849	autistic disorder	Alliance of Genome Resources
DOID:13365	reading disorder	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 58 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	39387		FB:FBgn0013997
Mus musculus	66797		MGI:1914047	MOUSE47925
Caenorhabditis elegans	178167		WB:WBGene00003772
Rattus norvegicus	362355		RGD:1307076
Pan troglodytes	463819	9598_0:00224f		PANTR41702
Rattus norvegicus	500105			RATNO31235
Danio rerio	559157		ZFIN:ZDB-GENE-120328-3	DANRE26061
Danio rerio	563345		ZFIN:ZDB-GENE-070912-26
Macaca mulatta	574172			MACMU31104
Ornithorhynchus anatinus	100073864			ORNAN19965

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements