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PKP4 (plakophilin 4)

Identity

Alias_symbol (synonym)p0071
Other alias
HGNC (Hugo) PKP4
LocusID (NCBI) 8502
Atlas_Id 53383
Location 2q24.1  [Link to chromosome band 2q24]
Location_base_pair Starts at 158456880 and ends at 158681428 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DVL3 (3q27.1) / PKP4 (2q24.1)DZIP1 (13q32.1) / PKP4 (2q24.1)PKP4 (2q24.1) / CCDC148 (2q24.1)
PKP4 (2q24.1) / IL1RAPL1 (Xp21.3)PKP4 (2q24.1) / MAP4K4 (2q11.2)PKP4 (2q24.1) / PDE1A (2q32.1)
PKP4 (2q24.1) / PKP4 (2q24.1)PKP4 (2q24.1) / POLH (6p21.1)PKP4 (2q24.1) / PSEN1 (14q24.2)
PKP4 (2q24.1) / ZNF548 (19q13.43)PSMA1 (11p15.2) / PKP4 (2q24.1)SETDB1 (1q21.3) / PKP4 (2q24.1)
SPARCL1 (4q22.1) / PKP4 (2q24.1)TANC1 (2q24.2) / PKP4 (2q24.1)USP15 (12q14.1) / PKP4 (2q24.1)
WWOX (16q23.1) / PKP4 (2q24.1)PKP4 2q24.1 / CCDC148 2q24.1PKP4 2q24.1 / PDE1A 2q32.1
SETDB1 1q21.3 / PKP4 2q24.1TANC1 2q24.2 / PKP4 2q24.1USP15 12q14.1 / PKP4 2q24.1

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)PKP4   9026
Cards
Entrez_Gene (NCBI)PKP4  8502  plakophilin 4
Aliasesp0071
GeneCards (Weizmann)PKP4
Ensembl hg19 (Hinxton)ENSG00000144283 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144283 [Gene_View]  chr2:158456880-158681428 [Contig_View]  PKP4 [Vega]
ICGC DataPortalENSG00000144283
TCGA cBioPortalPKP4
AceView (NCBI)PKP4
Genatlas (Paris)PKP4
WikiGenes8502
SOURCE (Princeton)PKP4
Genetics Home Reference (NIH)PKP4
Genomic and cartography
GoldenPath hg38 (UCSC)PKP4  -     chr2:158456880-158681428 +  2q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PKP4  -     2q24.1   [Description]    (hg19-Feb_2009)
EnsemblPKP4 - 2q24.1 [CytoView hg19]  PKP4 - 2q24.1 [CytoView hg38]
Mapping of homologs : NCBIPKP4 [Mapview hg19]  PKP4 [Mapview hg38]
OMIM604276   
Gene and transcription
Genbank (Entrez)AK054911 AK055015 AK055823 AK124237 AK128720
RefSeq transcript (Entrez)NM_001005476 NM_001304969 NM_001304970 NM_001304971 NM_003628
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PKP4
Cluster EST : UnigeneHs.407580 [ NCBI ]
CGAP (NCI)Hs.407580
Alternative Splicing GalleryENSG00000144283
Gene ExpressionPKP4 [ NCBI-GEO ]   PKP4 [ EBI - ARRAY_EXPRESS ]   PKP4 [ SEEK ]   PKP4 [ MEM ]
Gene Expression Viewer (FireBrowse)PKP4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8502
GTEX Portal (Tissue expression)PKP4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99569   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99569  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99569
Splice isoforms : SwissVarQ99569
PhosPhoSitePlusQ99569
Domaine pattern : Prosite (Expaxy)ARM_REPEAT (PS50176)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Armadillo    Plakophilin-4    Plakophilin/d_Catenin   
Domain families : Pfam (Sanger)Arm (PF00514)   
Domain families : Pfam (NCBI)pfam00514   
Domain families : Smart (EMBL)ARM (SM00185)  
Conserved Domain (NCBI)PKP4
DMDM Disease mutations8502
Blocks (Seattle)PKP4
SuperfamilyQ99569
Human Protein AtlasENSG00000144283
Peptide AtlasQ99569
HPRD05043
IPIIPI00334400   IPI00816068   IPI00761037   IPI00021076   IPI00916665   IPI00917121   IPI00917935   IPI00917233   IPI01015851   
Protein Interaction databases
DIP (DOE-UCLA)Q99569
IntAct (EBI)Q99569
FunCoupENSG00000144283
BioGRIDPKP4
STRING (EMBL)PKP4
ZODIACPKP4
Ontologies - Pathways
QuickGOQ99569
Ontology : AmiGOspindle pole  cornified envelope  protein binding  cytoplasm  cytoskeleton  plasma membrane  plasma membrane  cell-cell junction  cell-cell junction assembly  cell-cell signaling  cytoplasmic side of plasma membrane  postsynaptic density  single organismal cell-cell adhesion  cell junction  desmosome  regulation of cell adhesion  midbody  midbody  keratinization  positive regulation of cytokinesis  positive regulation of GTPase activity  cell-cell contact zone  perinuclear region of cytoplasm  spindle midzone  cornification  mitotic spindle  
Ontology : EGO-EBIspindle pole  cornified envelope  protein binding  cytoplasm  cytoskeleton  plasma membrane  plasma membrane  cell-cell junction  cell-cell junction assembly  cell-cell signaling  cytoplasmic side of plasma membrane  postsynaptic density  single organismal cell-cell adhesion  cell junction  desmosome  regulation of cell adhesion  midbody  midbody  keratinization  positive regulation of cytokinesis  positive regulation of GTPase activity  cell-cell contact zone  perinuclear region of cytoplasm  spindle midzone  cornification  mitotic spindle  
NDEx NetworkPKP4
Atlas of Cancer Signalling NetworkPKP4
Wikipedia pathwaysPKP4
Orthology - Evolution
OrthoDB8502
GeneTree (enSembl)ENSG00000144283
Phylogenetic Trees/Animal Genes : TreeFamPKP4
HOVERGENQ99569
HOGENOMQ99569
Homologs : HomoloGenePKP4
Homology/Alignments : Family Browser (UCSC)PKP4
Gene fusions - Rearrangements
Fusion : MitelmanPKP4/CCDC148 [2q24.1/2q24.1]  
Fusion : MitelmanPKP4/PDE1A [2q24.1/2q32.1]  [t(2;2)(q24;q32)]  
Fusion : MitelmanSETDB1/PKP4 [1q21.3/2q24.1]  [t(1;2)(q21;q24)]  
Fusion : MitelmanTANC1/PKP4 [2q24.2/2q24.1]  [t(2;2)(q24;q24)]  
Fusion : MitelmanUSP15/PKP4 [12q14.1/2q24.1]  [t(2;12)(q24;q14)]  
Fusion: TCGAPKP4 2q24.1 CCDC148 2q24.1 KIRC
Fusion: TCGAPKP4 2q24.1 PDE1A 2q32.1 OV
Fusion: TCGASETDB1 1q21.3 PKP4 2q24.1 BRCA
Fusion: TCGATANC1 2q24.2 PKP4 2q24.1 BRCA OV
Fusion: TCGAUSP15 12q14.1 PKP4 2q24.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKP4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKP4
dbVarPKP4
ClinVarPKP4
1000_GenomesPKP4 
Exome Variant ServerPKP4
ExAC (Exome Aggregation Consortium)PKP4 (select the gene name)
Genetic variants : HAPMAP8502
Genomic Variants (DGV)PKP4 [DGVbeta]
DECIPHERPKP4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPKP4 
Mutations
ICGC Data PortalPKP4 
TCGA Data PortalPKP4 
Broad Tumor PortalPKP4
OASIS PortalPKP4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPKP4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPKP4
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 PKP4
DgiDB (Drug Gene Interaction Database)PKP4
DoCM (Curated mutations)PKP4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PKP4 (select a term)
intoGenPKP4
Cancer3DPKP4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604276   
Orphanet
MedgenPKP4
Genetic Testing Registry PKP4
NextProtQ99569 [Medical]
TSGene8502
GENETestsPKP4
Huge Navigator PKP4 [HugePedia]
snp3D : Map Gene to Disease8502
BioCentury BCIQPKP4
ClinGenPKP4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8502
Chemical/Pharm GKB GenePA33359
Clinical trialPKP4
Miscellaneous
canSAR (ICR)PKP4 (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePKP4
EVEXPKP4
GoPubMedPKP4
iHOPPKP4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:31:26 CEST 2017

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