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CNTN4 (contactin 4)

Identity

Alias_symbol (synonym)BIG-2
Other aliasAXCAM
HGNC (Hugo) CNTN4
LocusID (NCBI) 152330
Atlas_Id 51225
Location 3p26.3  [Link to chromosome band 3p26]
Location_base_pair Starts at 2280513 and ends at 3099645 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CNTN4 (3p26.3) / B3GNT2 (2p15)CNTN4 (3p26.3) / LINC00341 (14q32.13)CNTN4 (3p26.3) / RASA3 (13q34)
RSF1 (11q14.1) / CNTN4 (3p26.3)SLC1A5 (19q13.32) / CNTN4 (3p26.3)SNX21 (20q13.12) / CNTN4 (3p26.3)
TLK1 (2q31.1) / CNTN4 (3p26.3)TRNT1 (3p26.2) / CNTN4 (3p26.3)

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)CNTN4   2174
Cards
Entrez_Gene (NCBI)CNTN4  152330  contactin 4
AliasesAXCAM; BIG-2
GeneCards (Weizmann)CNTN4
Ensembl hg19 (Hinxton)ENSG00000144619 [Gene_View]  chr3:2280513-3099645 [Contig_View]  CNTN4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000144619 [Gene_View]  chr3:2280513-3099645 [Contig_View]  CNTN4 [Vega]
ICGC DataPortalENSG00000144619
TCGA cBioPortalCNTN4
AceView (NCBI)CNTN4
Genatlas (Paris)CNTN4
WikiGenes152330
SOURCE (Princeton)CNTN4
Genetics Home Reference (NIH)CNTN4
Genomic and cartography
GoldenPath hg19 (UCSC)CNTN4  -     chr3:2280513-3099645 +  3p26.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CNTN4  -     3p26.3   [Description]    (hg38-Dec_2013)
EnsemblCNTN4 - 3p26.3 [CytoView hg19]  CNTN4 - 3p26.3 [CytoView hg38]
Mapping of homologs : NCBICNTN4 [Mapview hg19]  CNTN4 [Mapview hg38]
OMIM607280   
Gene and transcription
Genbank (Entrez)AF464063 AF549455 AI022097 AK057278 AK095729
RefSeq transcript (Entrez)NM_001206955 NM_001206956 NM_175607 NM_175612 NM_175613
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_012827 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)CNTN4
Cluster EST : UnigeneHs.626418 [ NCBI ]
CGAP (NCI)Hs.626418
Alternative Splicing GalleryENSG00000144619
Gene ExpressionCNTN4 [ NCBI-GEO ]   CNTN4 [ EBI - ARRAY_EXPRESS ]   CNTN4 [ SEEK ]   CNTN4 [ MEM ]
Gene Expression Viewer (FireBrowse)CNTN4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)152330
GTEX Portal (Tissue expression)CNTN4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWV2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IWV2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IWV2
Splice isoforms : SwissVarQ8IWV2
PhosPhoSitePlusQ8IWV2
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)Contactin-4    FN3_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2   
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)    Ig_2 (PF13895)   
Domain families : Pfam (NCBI)pfam00041    pfam07679    pfam13895   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)CNTN4
DMDM Disease mutations152330
Blocks (Seattle)CNTN4
SuperfamilyQ8IWV2
Human Protein AtlasENSG00000144619
Peptide AtlasQ8IWV2
HPRD16239
IPIIPI00178854   IPI00479016   IPI00941807   IPI00744041   IPI00927871   IPI00925010   IPI00924784   IPI00927340   IPI00967151   
Protein Interaction databases
DIP (DOE-UCLA)Q8IWV2
IntAct (EBI)Q8IWV2
FunCoupENSG00000144619
BioGRIDCNTN4
STRING (EMBL)CNTN4
ZODIACCNTN4
Ontologies - Pathways
QuickGOQ8IWV2
Ontology : AmiGOextracellular region  plasma membrane  neuron cell-cell adhesion  nervous system development  axonogenesis  axon guidance  axonal fasciculation  brain development  axon  neuron projection development  anchored component of membrane  negative regulation of neuron differentiation  regulation of synaptic plasticity  
Ontology : EGO-EBIextracellular region  plasma membrane  neuron cell-cell adhesion  nervous system development  axonogenesis  axon guidance  axonal fasciculation  brain development  axon  neuron projection development  anchored component of membrane  negative regulation of neuron differentiation  regulation of synaptic plasticity  
NDEx NetworkCNTN4
Atlas of Cancer Signalling NetworkCNTN4
Wikipedia pathwaysCNTN4
Orthology - Evolution
OrthoDB152330
GeneTree (enSembl)ENSG00000144619
Phylogenetic Trees/Animal Genes : TreeFamCNTN4
HOVERGENQ8IWV2
HOGENOMQ8IWV2
Homologs : HomoloGeneCNTN4
Homology/Alignments : Family Browser (UCSC)CNTN4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCNTN4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CNTN4
dbVarCNTN4
ClinVarCNTN4
1000_GenomesCNTN4 
Exome Variant ServerCNTN4
ExAC (Exome Aggregation Consortium)CNTN4 (select the gene name)
Genetic variants : HAPMAP152330
Genomic Variants (DGV)CNTN4 [DGVbeta]
DECIPHER (Syndromes)3:2280513-3099645  ENSG00000144619
CONAN: Copy Number AnalysisCNTN4 
Mutations
ICGC Data PortalCNTN4 
TCGA Data PortalCNTN4 
Broad Tumor PortalCNTN4
OASIS PortalCNTN4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCNTN4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCNTN4
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
BioMutasearch CNTN4
DgiDB (Drug Gene Interaction Database)CNTN4
DoCM (Curated mutations)CNTN4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CNTN4 (select a term)
intoGenCNTN4
Cancer3DCNTN4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607280   
Orphanet1114   
MedgenCNTN4
Genetic Testing Registry CNTN4
NextProtQ8IWV2 [Medical]
TSGene152330
GENETestsCNTN4
Huge Navigator CNTN4 [HugePedia]
snp3D : Map Gene to Disease152330
BioCentury BCIQCNTN4
ClinGenCNTN4 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD152330
Chemical/Pharm GKB GenePA26688
Clinical trialCNTN4
Miscellaneous
canSAR (ICR)CNTN4 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCNTN4
EVEXCNTN4
GoPubMedCNTN4
iHOPCNTN4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Mar 30 14:57:06 CEST 2017

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