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PCDH12 (protocadherin 12)

Identity

Alias_symbol (synonym)VE-cadherin-2
Other aliasVECAD2
HGNC (Hugo) PCDH12
LocusID (NCBI) 51294
Atlas_Id 71696
Location 5q31.3  [Link to chromosome band 5q31]
Location_base_pair Starts at 141943585 and ends at 141959062 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PCDH12 (5q31.3) / DENND3 (8q24.3)

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)PCDH12   8657
Cards
Entrez_Gene (NCBI)PCDH12  51294  protocadherin 12
AliasesVE-cadherin-2; VECAD2
GeneCards (Weizmann)PCDH12
Ensembl hg19 (Hinxton)ENSG00000113555 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113555 [Gene_View]  chr5:141943585-141959062 [Contig_View]  PCDH12 [Vega]
ICGC DataPortalENSG00000113555
TCGA cBioPortalPCDH12
AceView (NCBI)PCDH12
Genatlas (Paris)PCDH12
WikiGenes51294
SOURCE (Princeton)PCDH12
Genetics Home Reference (NIH)PCDH12
Genomic and cartography
GoldenPath hg38 (UCSC)PCDH12  -     chr5:141943585-141959062 -  5q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCDH12  -     5q31.3   [Description]    (hg19-Feb_2009)
EnsemblPCDH12 - 5q31.3 [CytoView hg19]  PCDH12 - 5q31.3 [CytoView hg38]
Mapping of homologs : NCBIPCDH12 [Mapview hg19]  PCDH12 [Mapview hg38]
OMIM605622   
Gene and transcription
Genbank (Entrez)AB026893 AF231025 AF240635 AK023785 AK024140
RefSeq transcript (Entrez)NM_016580
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCDH12
Cluster EST : UnigeneHs.600230 [ NCBI ]
CGAP (NCI)Hs.600230
Alternative Splicing GalleryENSG00000113555
Gene ExpressionPCDH12 [ NCBI-GEO ]   PCDH12 [ EBI - ARRAY_EXPRESS ]   PCDH12 [ SEEK ]   PCDH12 [ MEM ]
Gene Expression Viewer (FireBrowse)PCDH12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51294
GTEX Portal (Tissue expression)PCDH12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NPG4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NPG4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NPG4
Splice isoforms : SwissVarQ9NPG4
PhosPhoSitePlusQ9NPG4
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    Cadherin_N    Protocadherin-12   
Domain families : Pfam (Sanger)Cadherin (PF00028)    Cadherin_2 (PF08266)   
Domain families : Pfam (NCBI)pfam00028    pfam08266   
Domain families : Smart (EMBL)CA (SM00112)  
Conserved Domain (NCBI)PCDH12
DMDM Disease mutations51294
Blocks (Seattle)PCDH12
SuperfamilyQ9NPG4
Human Protein AtlasENSG00000113555
Peptide AtlasQ9NPG4
HPRD09287
IPIIPI00009851   IPI00977183   
Protein Interaction databases
DIP (DOE-UCLA)Q9NPG4
IntAct (EBI)Q9NPG4
FunCoupENSG00000113555
BioGRIDPCDH12
STRING (EMBL)PCDH12
ZODIACPCDH12
Ontologies - Pathways
QuickGOQ9NPG4
Ontology : AmiGOcalcium ion binding  plasma membrane  integral component of plasma membrane  cell-cell junction  glycogen metabolic process  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  cell-cell signaling  neuron recognition  calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  labyrinthine layer development  extracellular exosome  
Ontology : EGO-EBIcalcium ion binding  plasma membrane  integral component of plasma membrane  cell-cell junction  glycogen metabolic process  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  cell-cell signaling  neuron recognition  calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  labyrinthine layer development  extracellular exosome  
NDEx NetworkPCDH12
Atlas of Cancer Signalling NetworkPCDH12
Wikipedia pathwaysPCDH12
Orthology - Evolution
OrthoDB51294
GeneTree (enSembl)ENSG00000113555
Phylogenetic Trees/Animal Genes : TreeFamPCDH12
HOVERGENQ9NPG4
HOGENOMQ9NPG4
Homologs : HomoloGenePCDH12
Homology/Alignments : Family Browser (UCSC)PCDH12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCDH12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCDH12
dbVarPCDH12
ClinVarPCDH12
1000_GenomesPCDH12 
Exome Variant ServerPCDH12
ExAC (Exome Aggregation Consortium)PCDH12 (select the gene name)
Genetic variants : HAPMAP51294
Genomic Variants (DGV)PCDH12 [DGVbeta]
DECIPHERPCDH12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCDH12 
Mutations
ICGC Data PortalPCDH12 
TCGA Data PortalPCDH12 
Broad Tumor PortalPCDH12
OASIS PortalPCDH12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCDH12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCDH12
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 PCDH12
DgiDB (Drug Gene Interaction Database)PCDH12
DoCM (Curated mutations)PCDH12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCDH12 (select a term)
intoGenPCDH12
Cancer3DPCDH12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605622   
Orphanet
MedgenPCDH12
Genetic Testing Registry PCDH12
NextProtQ9NPG4 [Medical]
TSGene51294
GENETestsPCDH12
Target ValidationPCDH12
Huge Navigator PCDH12 [HugePedia]
snp3D : Map Gene to Disease51294
BioCentury BCIQPCDH12
ClinGenPCDH12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51294
Chemical/Pharm GKB GenePA32998
Clinical trialPCDH12
Miscellaneous
canSAR (ICR)PCDH12 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCDH12
EVEXPCDH12
GoPubMedPCDH12
iHOPPCDH12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:35:37 CEST 2017

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