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CNTNAP2 (contactin associated protein 2)

Identity

Alias (NCBI)AUTS15
CASPR2
CDFE
NRXN4
PTHSL1
HGNC (Hugo) CNTNAP2
HGNC Alias symbCaspr2
KIAA0868
NRXN4
HGNC Previous namecontactin associated protein like 2
LocusID (NCBI) 26047
Atlas_Id 47586
Location 7q35  [Link to chromosome band 7q35]
Location_base_pair Starts at 146774271 and ends at 148420996 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CNTNAP2 (7q35) / SPOCK3 (4q32.3)KIAA2013 (1p36.22) / CNTNAP2 (7q35)KMT2C (7q36.1) / CNTNAP2 (7q35)
MFSD14A (1p21.2) / CNTNAP2 (7q35)SEMA3C (7q21.11) / CNTNAP2 (7q35)ZRSR2 (Xp22.2) / CNTNAP2 (7q35)
MLL3 CNTNAP2 7q35SEMA3C 7q21.11 / CNTNAP2 7q35

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)CNTNAP2   13830
Cards
Entrez_Gene (NCBI)CNTNAP2    contactin associated protein 2
AliasesAUTS15; CASPR2; CDFE; NRXN4; 
PTHSL1
GeneCards (Weizmann)CNTNAP2
Ensembl hg19 (Hinxton)ENSG00000174469 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174469 [Gene_View]  ENSG00000174469 [Sequence]  chr7:146774271-148420996 [Contig_View]  CNTNAP2 [Vega]
ICGC DataPortalENSG00000174469
TCGA cBioPortalCNTNAP2
AceView (NCBI)CNTNAP2
Genatlas (Paris)CNTNAP2
SOURCE (Princeton)CNTNAP2
Genetics Home Reference (NIH)CNTNAP2
Genomic and cartography
GoldenPath hg38 (UCSC)CNTNAP2  -     chr7:146774271-148420996 +  7q35   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CNTNAP2  -     7q35   [Description]    (hg19-Feb_2009)
GoldenPathCNTNAP2 - 7q35 [CytoView hg19]  CNTNAP2 - 7q35 [CytoView hg38]
ImmunoBaseENSG00000174469
Genome Data Viewer NCBICNTNAP2 [Mapview hg19]  
OMIM604569   610042   612100   
Gene and transcription
Genbank (Entrez)AB020675 AB073883 AF319045 AK000960 AK294098
RefSeq transcript (Entrez)NM_014141
Consensus coding sequences : CCDS (NCBI)CNTNAP2
Gene ExpressionCNTNAP2 [ NCBI-GEO ]   CNTNAP2 [ EBI - ARRAY_EXPRESS ]   CNTNAP2 [ SEEK ]   CNTNAP2 [ MEM ]
Gene Expression Viewer (FireBrowse)CNTNAP2 [ Firebrowse - Broad ]
GenevisibleExpression of CNTNAP2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26047
GTEX Portal (Tissue expression)CNTNAP2
Human Protein AtlasENSG00000174469-CNTNAP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHC6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHC6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHC6
PhosPhoSitePlusQ9UHC6
Domaine pattern : Prosite (Expaxy)EGF_3 (PS50026)    FA58C_1 (PS01285)    FA58C_2 (PS01286)    FA58C_3 (PS50022)    FIBRINOGEN_C_2 (PS51406)    LAM_G_DOMAIN (PS50025)   
Domains : Interpro (EBI)Caspr2    ConA-like_dom_sf    EGF-like_dom    FA58C    Fibrinogen-like_C    Fibrinogen_a/b/g_C_dom    Galactose-bd-like_sf    Laminin_G    Neurexin-like   
Domain families : Pfam (Sanger)F5_F8_type_C (PF00754)    Laminin_G_2 (PF02210)   
Domain families : Pfam (NCBI)pfam00754    pfam02210   
Domain families : Smart (EMBL)4.1m (SM00294)  EGF (SM00181)  FA58C (SM00231)  LamG (SM00282)  
Conserved Domain (NCBI)CNTNAP2
PDB (RSDB)5Y4M   
PDB Europe5Y4M   
PDB (PDBSum)5Y4M   
PDB (IMB)5Y4M   
Structural Biology KnowledgeBase5Y4M   
SCOP (Structural Classification of Proteins)5Y4M   
CATH (Classification of proteins structures)5Y4M   
SuperfamilyQ9UHC6
AlphaFold pdb e-kbQ9UHC6   
Human Protein Atlas [tissue]ENSG00000174469-CNTNAP2 [tissue]
HPRD05197
Protein Interaction databases
DIP (DOE-UCLA)Q9UHC6
IntAct (EBI)Q9UHC6
BioGRIDCNTNAP2
STRING (EMBL)CNTNAP2
ZODIACCNTNAP2
Ontologies - Pathways
QuickGOQ9UHC6
Ontology : AmiGOprotein binding  early endosome  Golgi apparatus  cell adhesion  brain development  learning  neuron recognition  voltage-gated potassium channel complex  voltage-gated potassium channel complex  cell surface  membrane  integral component of membrane  transmission of nerve impulse  enzyme binding  striatum development  limbic system development  thalamus development  cerebral cortex development  axon  dendrite  adult behavior  axolemma  neuron projection development  paranodal junction  social behavior  vocal learning  neuronal cell body  perikaryon  juxtaparanode region of axon  clustering of voltage-gated potassium channels  neuron projection morphogenesis  superior temporal gyrus development  protein localization to juxtaparanode region of axon  vocalization behavior  positive regulation of gap junction assembly  
Ontology : EGO-EBIprotein binding  early endosome  Golgi apparatus  cell adhesion  brain development  learning  neuron recognition  voltage-gated potassium channel complex  voltage-gated potassium channel complex  cell surface  membrane  integral component of membrane  transmission of nerve impulse  enzyme binding  striatum development  limbic system development  thalamus development  cerebral cortex development  axon  dendrite  adult behavior  axolemma  neuron projection development  paranodal junction  social behavior  vocal learning  neuronal cell body  perikaryon  juxtaparanode region of axon  clustering of voltage-gated potassium channels  neuron projection morphogenesis  superior temporal gyrus development  protein localization to juxtaparanode region of axon  vocalization behavior  positive regulation of gap junction assembly  
Pathways : KEGGCell adhesion molecules (CAMs)   
NDEx NetworkCNTNAP2
Atlas of Cancer Signalling NetworkCNTNAP2
Wikipedia pathwaysCNTNAP2
Orthology - Evolution
OrthoDB26047
GeneTree (enSembl)ENSG00000174469
Phylogenetic Trees/Animal Genes : TreeFamCNTNAP2
Homologs : HomoloGeneCNTNAP2
Homology/Alignments : Family Browser (UCSC)CNTNAP2
Gene fusions - Rearrangements
Fusion : MitelmanKIAA2013/CNTNAP2 [1p36.22/7q35]  
Fusion : MitelmanKMT2C/CNTNAP2 [7q36.1/7q35]  
Fusion : MitelmanSEMA3C/CNTNAP2 [7q21.11/7q35]  
Fusion : QuiverCNTNAP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCNTNAP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CNTNAP2
dbVarCNTNAP2
ClinVarCNTNAP2
MonarchCNTNAP2
1000_GenomesCNTNAP2 
Exome Variant ServerCNTNAP2
GNOMAD BrowserENSG00000174469
Varsome BrowserCNTNAP2
ACMGCNTNAP2 variants
VarityQ9UHC6
Genomic Variants (DGV)CNTNAP2 [DGVbeta]
DECIPHERCNTNAP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCNTNAP2 
Mutations
ICGC Data PortalCNTNAP2 
TCGA Data PortalCNTNAP2 
Broad Tumor PortalCNTNAP2
OASIS PortalCNTNAP2 [ Somatic mutations - Copy number]
Cancer Gene: CensusCNTNAP2 
Somatic Mutations in Cancer : COSMICCNTNAP2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCNTNAP2
Mutations and Diseases : HGMDCNTNAP2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCNTNAP2
DgiDB (Drug Gene Interaction Database)CNTNAP2
DoCM (Curated mutations)CNTNAP2
CIViC (Clinical Interpretations of Variants in Cancer)CNTNAP2
Cancer3DCNTNAP2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604569    610042    612100   
Orphanet17521    18950   
DisGeNETCNTNAP2
MedgenCNTNAP2
Genetic Testing Registry CNTNAP2
NextProtQ9UHC6 [Medical]
GENETestsCNTNAP2
Target ValidationCNTNAP2
Huge Navigator CNTNAP2 [HugePedia]
ClinGenCNTNAP2 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeCNTNAP2
Protein Interactions : CTDCNTNAP2
Pharm GKB GenePA26692
PharosQ9UHC6
Clinical trialCNTNAP2
Miscellaneous
canSAR (ICR)CNTNAP2
HarmonizomeCNTNAP2
DataMed IndexCNTNAP2
Probes
Litterature
PubMed125 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCNTNAP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:04:38 CEST 2021

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