HUMAN:CNTP2

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	CNTNAP2 (synonyms: CASPR2 (ECO:0000303 with PMID:10624965^[1]), KIAA0868)
Protein Name(s)	Contactin-associated protein-like 2 Cell recognition molecule Caspr2
External Links
UniProt	Q9UHC6
EMBL	AF193613 AF319045 AF318292 AF318298 AB020675 CR933671 CH471146 BC093780 BC113373
CCDS	CCDS5889.1
RefSeq	NP_054860.1
UniGene	Hs.655684
ProteinModelPortal	Q9UHC6
SMR	Q9UHC6
BioGrid	117510
IntAct	Q9UHC6
MINT	MINT-241211
STRING	9606.ENSP00000354778
PhosphoSite	Q9UHC6
DMDM	17433089
MaxQB	Q9UHC6
PaxDb	Q9UHC6
PRIDE	Q9UHC6
Ensembl	ENST00000361727
GeneID	26047
KEGG	hsa:26047
UCSC	uc003weu.2 uc003wev.2
CTD	26047
GeneCards	GC07P145863
HGNC	HGNC:13830
HPA	HPA002739
MIM	604569 610042 612100
neXtProt	NX_Q9UHC6
Orphanet	106 163681 221150
PharmGKB	PA26692
eggNOG	NOG291100
GeneTree	ENSGT00760000118991
HOGENOM	HOG000230964
HOVERGEN	HBG057718
InParanoid	Q9UHC6
KO	K07380
OMA	DSNSLEW
OrthoDB	EOG7GXP9N
PhylomeDB	Q9UHC6
TreeFam	TF321823
ChiTaRS	CNTNAP2
GeneWiki	CNTNAP2
GenomeRNAi	26047
NextBio	47891
PRO	PR:Q9UHC6
Proteomes	UP000005640
Bgee	Q9UHC6
CleanEx	HS_CNTNAP2
ExpressionAtlas	Q9UHC6
Genevestigator	Q9UHC6
GO	GO:0030673 GO:0030424 GO:0009986 GO:0030425 GO:0005769 GO:0005794 GO:0016021 GO:0044224 GO:0016020 GO:0043025 GO:0043204 GO:0008076 GO:0019899 GO:0030534 GO:0007420 GO:0007155 GO:0034613 GO:0021987 GO:0045163 GO:0007612 GO:0021761 GO:0031175 GO:0008038 GO:0071205 GO:0035176 GO:0021756 GO:0071109 GO:0021794 GO:0019226 GO:0071625
Gene3D	2.60.120.200 2.60.120.260
InterPro	IPR029831 IPR000421 IPR013320 IPR000742 IPR002181 IPR008979 IPR001791 IPR003585
PANTHER	PTHR10127:SF4
Pfam	PF00008 PF00754 PF02210
SMART	SM00294 SM00181 SM00231 SM00282
SUPFAM	SSF49785 SSF49899 SSF56496
PROSITE	PS50026 PS01285 PS01286 PS50022 PS51406 PS50025

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
involved_in	GO:0048812	neuron projection morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CPW0	P	Seeded From UniProt	complete
involved_in	GO:0071625	vocalization behavior	PMID:18179893^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0071625	vocalization behavior	PMID:19896112^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0071205	protein localization to juxtaparanode region of axon	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CPW0	P	Seeded From UniProt	complete
involved_in	GO:0071109	superior temporal gyrus development	PMID:18179893^[2]	ECO:0000270	expression pattern evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0045163	clustering of voltage-gated potassium channels	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CPW0	P	Seeded From UniProt	complete
part_of	GO:0044224	juxtaparanode region of axon	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CPW0	C	Seeded From UniProt	complete
involved_in	GO:0035176	social behavior	PMID:19896112^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0035176	social behavior	PMID:18179893^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0031175	neuron projection development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CPW0	P	Seeded From UniProt	complete
part_of	GO:0030673	axolemma	PMID:19706678^[4]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0030534	adult behavior	PMID:18179893^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0021987	cerebral cortex development	PMID:18179893^[2]	ECO:0000270	expression pattern evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0021987	cerebral cortex development	PMID:18987363^[5]	ECO:0000270	expression pattern evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0021794	thalamus development	PMID:18179893^[2]	ECO:0000270	expression pattern evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0021761	limbic system development	PMID:18179895^[6]	ECO:0000270	expression pattern evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0021756	striatum development	PMID:18179893^[2]	ECO:0000270	expression pattern evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0019899	enzyme binding	PMID:19166515^[7]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P16870	F	Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:10624965^[1]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0009986	cell surface	PMID:19706678^[4]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0008076	voltage-gated potassium channel complex	PMID:10624965^[1]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0007612	learning	PMID:18179893^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0042297	vocal learning	PMID:19896112^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	PMID:19166515^[7]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005769	early endosome	PMID:19706678^[4]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0043204	perikaryon	PMID:19166515^[7]	ECO:0000303	author statement without traceable support used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0043025	neuronal cell body	PMID:10624965^[1]	ECO:0000303	author statement without traceable support used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0030425	dendrite	PMID:10624965^[1]	ECO:0000303	author statement without traceable support used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0030424	axon	PMID:19706678^[4]	ECO:0000303	author statement without traceable support used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0008076	voltage-gated potassium channel complex	PMID:10624965^[1]	ECO:0000303	author statement without traceable support used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0019226	transmission of nerve impulse	PMID:11352571^[8]	ECO:0000303	author statement without traceable support used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	PMID:11352571^[8]	ECO:0000303	author statement without traceable support used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0008038	neuron recognition	PMID:10624965^[1]	ECO:0000303	author statement without traceable support used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0071205	protein localization to juxtaparanode region of axon	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR029831	P	Seeded From UniProt	complete
involved_in	GO:0007420	brain development	PMID:10624965^[1]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C	Seeded From UniProt	complete
part_of	GO:0042995	cell projection	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0966	C	Seeded From UniProt	complete
part_of	GO:0030054	cell junction	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0965	C	Seeded From UniProt	complete
involved_in	GO:0007155	cell adhesion	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0130	P	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472 UniProtKB-SubCell:SL-0162	C	Seeded From UniProt	complete
part_of	GO:0030424	axon	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0279	C	Seeded From UniProt	complete
part_of	GO:0033010	paranodal junction	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0192	C	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 ^1.7 Poliak, S et al. (1999) Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron 24 1037-47 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 ^2.7 Alarcón, M et al. (2008) Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am. J. Hum. Genet. 82 150-9 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 Zweier, C et al. (2009) CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am. J. Hum. Genet. 85 655-66 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 Bel, C et al. (2009) Axonal targeting of Caspr2 in hippocampal neurons via selective somatodendritic endocytosis. J. Cell. Sci. 122 3403-13 PubMed GONUTS page
↑ Vernes, SC et al. (2008) A functional genetic link between distinct developmental language disorders. N. Engl. J. Med. 359 2337-45 PubMed GONUTS page
↑ Bakkaloglu, B et al. (2008) Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am. J. Hum. Genet. 82 165-73 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 Oiso, S et al. (2009) Contactin-associated protein (Caspr) 2 interacts with carboxypeptidase E in the CNS. J. Neurochem. 109 158-67 PubMed GONUTS page
↑ ^8.0 ^8.1 Nakabayashi, K & Scherer, SW (2001) The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35. Genomics 73 108-12 PubMed GONUTS page

[PMID:10624965-1] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 ^1.7 Poliak, S et al. (1999) Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron 24 1037-47 PubMed GONUTS page

[PMID:18179893-2] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 ^2.7 Alarcón, M et al. (2008) Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am. J. Hum. Genet. 82 150-9 PubMed GONUTS page

[PMID:19896112-3] 3.0 ^3.1 ^3.2 Zweier, C et al. (2009) CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am. J. Hum. Genet. 85 655-66 PubMed GONUTS page

[PMID:19706678-4] 4.0 ^4.1 ^4.2 ^4.3 Bel, C et al. (2009) Axonal targeting of Caspr2 in hippocampal neurons via selective somatodendritic endocytosis. J. Cell. Sci. 122 3403-13 PubMed GONUTS page

[PMID:18987363-5] Vernes, SC et al. (2008) A functional genetic link between distinct developmental language disorders. N. Engl. J. Med. 359 2337-45 PubMed GONUTS page

[PMID:18179895-6] Bakkaloglu, B et al. (2008) Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am. J. Hum. Genet. 82 165-73 PubMed GONUTS page

[PMID:19166515-7] 7.0 ^7.1 ^7.2 Oiso, S et al. (2009) Contactin-associated protein (Caspr) 2 interacts with carboxypeptidase E in the CNS. J. Neurochem. 109 158-67 PubMed GONUTS page

[PMID:11352571-8] 8.0 ^8.1 Nakabayashi, K & Scherer, SW (2001) The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35. Genomics 73 108-12 PubMed GONUTS page

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HUMAN:CNTP2

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