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CNTNAP2 (contactin associated protein-like 2)

Identity

Alias_symbol (synonym)Caspr2
KIAA0868
NRXN4
Other aliasAUTS15
CASPR2
CDFE
PTHSL1
HGNC (Hugo) CNTNAP2
LocusID (NCBI) 26047
Atlas_Id 47586
Location 7q35  [Link to chromosome band 7q35]
Location_base_pair Starts at 146116361 and ends at 148420996 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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  26047  contactin associated protein-like 2
AliasesAUTS15; CASPR2; CDFE; NRXN4; 
PTHSL1
GeneCards (Weizmann)CNTNAP2
Ensembl hg19 (Hinxton)ENSG00000174469 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174469 [Gene_View]  chr7:146116361-148420996 [Contig_View]  CNTNAP2 [Vega]
ICGC DataPortalENSG00000174469
TCGA cBioPortalCNTNAP2
AceView (NCBI)CNTNAP2
Genatlas (Paris)CNTNAP2
WikiGenes26047
SOURCE (Princeton)CNTNAP2
Genetics Home Reference (NIH)CNTNAP2
Genomic and cartography
GoldenPath hg38 (UCSC)CNTNAP2  -     chr7:146116361-148420996 +  7q35   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CNTNAP2  -     7q35   [Description]    (hg19-Feb_2009)
EnsemblCNTNAP2 - 7q35 [CytoView hg19]  CNTNAP2 - 7q35 [CytoView hg38]
Mapping of homologs : NCBICNTNAP2 [Mapview hg19]  CNTNAP2 [Mapview hg38]
OMIM604569   610042   612100   
Gene and transcription
Genbank (Entrez)AB020675 AB073883 AF319045 AK000960 AK294098
RefSeq transcript (Entrez)NM_014141
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_007092 NT_187564
Consensus coding sequences : CCDS (NCBI)CNTNAP2
Cluster EST : UnigeneHs.655684 [ NCBI ]
CGAP (NCI)Hs.655684
Alternative Splicing GalleryENSG00000174469
Gene ExpressionCNTNAP2 [ NCBI-GEO ]   CNTNAP2 [ EBI - ARRAY_EXPRESS ]   CNTNAP2 [ SEEK ]   CNTNAP2 [ MEM ]
Gene Expression Viewer (FireBrowse)CNTNAP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26047
GTEX Portal (Tissue expression)CNTNAP2
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
Splice isoforms : SwissVarQ9UHC6
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    EGF-like_dom    FA58C    Fibrinogen_a/b/g_C_dom    Galactose-bd-like    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
DMDM Disease mutations26047
Blocks (Seattle)CNTNAP2
SuperfamilyQ9UHC6
Human Protein AtlasENSG00000174469
Peptide AtlasQ9UHC6
HPRD05197
IPIIPI00029343   IPI00646209   IPI00916495   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHC6
IntAct (EBI)Q9UHC6
FunCoupENSG00000174469
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  social behavior  vocal learning  neuronal cell body  perikaryon  juxtaparanode region of axon  clustering of voltage-gated potassium channels  superior temporal gyrus development  protein localization to juxtaparanode region of axon  vocalization behavior  
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  social behavior  vocal learning  neuronal cell body  perikaryon  juxtaparanode region of axon  clustering of voltage-gated potassium channels  superior temporal gyrus development  protein localization to juxtaparanode region of axon  vocalization behavior  
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
HOVERGENQ9UHC6
HOGENOMQ9UHC6
Homologs : HomoloGeneCNTNAP2
Homology/Alignments : Family Browser (UCSC)CNTNAP2
Gene fusions - Rearrangements
Fusion : MitelmanKIAA2013/CNTNAP2 [1p36.22/7q35]  [t(1;7)(p36;q35)]  
Fusion : MitelmanKMT2C/CNTNAP2 [7q36.1/7q35]  [t(7;7)(q35;q36)]  
Fusion : MitelmanSEMA3C/CNTNAP2 [7q21.11/7q35]  [t(7;7)(q21;q35)]  
Fusion: TCGAMLL3 CNTNAP2 7q35 BRCA
Fusion: TCGASEMA3C 7q21.11 CNTNAP2 7q35 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCNTNAP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CNTNAP2
dbVarCNTNAP2
ClinVarCNTNAP2
1000_GenomesCNTNAP2 
Exome Variant ServerCNTNAP2
ExAC (Exome Aggregation Consortium)CNTNAP2 (select the gene name)
Genetic variants : HAPMAP26047
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]
Somatic Mutations in Cancer : COSMICCNTNAP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCNTNAP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)The Globin Gene Server
BioMutasearch CNTNAP2
DgiDB (Drug Gene Interaction Database)CNTNAP2
DoCM (Curated mutations)CNTNAP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CNTNAP2 (select a term)
intoGenCNTNAP2
Cancer3DCNTNAP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604569    610042    612100   
Orphanet17521    18950   
MedgenCNTNAP2
Genetic Testing Registry CNTNAP2
NextProtQ9UHC6 [Medical]
TSGene26047
GENETestsCNTNAP2
Huge Navigator CNTNAP2 [HugePedia]
snp3D : Map Gene to Disease26047
BioCentury BCIQCNTNAP2
ClinGenCNTNAP2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26047
Chemical/Pharm GKB GenePA26692
Clinical trialCNTNAP2
Miscellaneous
canSAR (ICR)CNTNAP2 (select the gene name)
Probes
Litterature
PubMed97 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCNTNAP2
EVEXCNTNAP2
GoPubMedCNTNAP2
iHOPCNTNAP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:11:14 CEST 2017

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