ENSG00000057294
Homo sapiens cell cardiac binding PKP2 ventricular involved regulation muscle protein adhesion intermediate filament bundle membrane action potential cell-cell conduction communication junction desmosome assembly heart sodium ion keratinization molecular function plasma cell-purkinje myocyte
Features Gene ID: ENSG00000057294 Biological name :PKP2 Synonyms : PKP2 / / Possible biological names infered from orthology : Species: Homo sapiens Chr. number: 12 Strand: -1 Band: p11.21 Gene start: 32790745 Gene end: 32896840 Corresponding Affymetrix probe sets: 207717_s_at (Human Genome U133 Plus 2.0 Array) 214154_s_at (Human Genome U133 Plus 2.0 Array) Cross references: Ensembl peptide - ENSP000000708465318
See in Manteia .
602861 NM_001005242 NM_004572 NP_001005242 NP_004563 A0A087WXY2 Q99959 ENSG00000057294 Related genetic diseases (OMIM): 609040 - Arrhythmogenic right ventricular dysplasia 9, 609040
See expression report in BioGPS See gene description in Wikigenes See gene description in GeneCards See co-cited genes in PubMed Ortholog prediction (from Ensembl )Paralog prediction (from Ensembl )Protein motifs (from Interpro )Gene Ontology (GO ) cellular component organization cellular component biogenesis cell adhesion anatomical structure development establishment of localization cellular developmental process intermediate filament-based process regulation of molecular function cell death macromolecule localization cellular localization regulation of biological quality system process movement of cell or subcellular component actin filament-based process cell communication multicellular organismal signaling cellular component organization cellular component biogenesis cell adhesion anatomical structure development establishment of localization cellular developmental process intermediate filament-based process regulation of molecular function cell death macromolecule localization cellular localization regulation of biological quality system process movement of cell or subcellular component actin filament-based process cell communication multicellular organismal signaling cellular component organization cellular component biogenesis cell adhesion anatomical structure development establishment of localization cellular developmental process intermediate filament-based process regulation of molecular function cell death macromolecule localization cellular localization regulation of biological quality system process movement of cell or subcellular component actin filament-based process cell communication multicellular organismal signaling cellular component organization cellular component biogenesis cell adhesion anatomical structure development establishment of localization cellular developmental process intermediate filament-based process regulation of molecular function cell death macromolecule localization cellular localization regulation of biological quality system process movement of cell or subcellular component actin filament-based process cell communication multicellular organismal signaling cellular component organization cellular component biogenesis cell adhesion anatomical structure development establishment of localization cellular developmental process intermediate filament-based process regulation of molecular function cell death macromolecule localization cellular localization regulation of biological quality system process movement of cell or subcellular component actin filament-based process cell communication multicellular organismal signaling cellular component organization cellular component biogenesis cell adhesion anatomical structure development establishment of localization cellular developmental process intermediate filament-based process regulation of molecular function cell death macromolecule localization cellular localization regulation of biological quality system process movement of cell or subcellular component actin filament-based process cell communication multicellular organismal signaling cellular component organization cellular component biogenesis cell adhesion anatomical structure development establishment of localization cellular developmental process intermediate filament-based process regulation of molecular function cell death macromolecule localization cellular localization regulation of biological quality system process movement of cell or subcellular component actin filament-based process cell communication multicellular organismal signaling cellular component organization cellular component biogenesis cell adhesion anatomical structure development establishment of localization cellular developmental process intermediate filament-based process regulation of molecular function cell death macromolecule localization cellular localization regulation of biological quality system process movement of cell or subcellular component actin filament-based process cell communication multicellular organismal signaling cellular component organization cellular component biogenesis cell adhesion anatomical structure development establishment of localization cellular developmental process intermediate filament-based process regulation of molecular function cell death macromolecule localization cellular localization regulation of biological quality system process movement of cell or subcellular component actin filament-based process cell communication multicellular organismal signaling cellular component organization cellular component biogenesis cell adhesion anatomical structure development establishment of localization cellular developmental process intermediate filament-based process regulation of molecular function cell death macromolecule localization cellular localization regulation of biological quality system process movement of cell or subcellular component actin filament-based process cell communication multicellular organismal signaling cellularcellular component organization cellularcellular component biogenesis cell adhcell adhesion anatomicanatomical structure development establisestablishment of localization cellularcellular developmental process intermedintermediate filament-based process regulatiregulation of molecular function cell deacell death macromolmacromolecule localization cellularcellular localization regulatiregulation of biological quality system psystem process movementmovement of cell or subcellular component actin fiactin filament-based process cell comcell communication multicelmulticellular organismal signaling protein binding channel regulator activity protein-containing complex binding cell adhesion mediator activity protein binding channel regulator activity protein-containing complex binding cell adhesion mediator activity protein binding channel regulator activity protein-containing complex binding cell adhesion mediator activity protein binding channel regulator activity protein-containing complex binding cell adhesion mediator activity protein binding channel regulator activity protein-containing complex binding cell adhesion mediator activity protein binding channel regulator activity protein-containing complex binding cell adhesion mediator activity protein binding channel regulator activity protein-containing complex binding cell adhesion mediator activity protein binding channel regulator activity protein-containing complex binding cell adhesion mediator activity protein binding channel regulator activity protein-containing complex binding cell adhesion mediator activity protein binding channel regulator activity protein-containing complex binding cell adhesion mediator activity protein bindingprotein binding channel regulator activitychannel regulator activity protein-containing complex bindingprotein-containing complex binding cell adhesion mediator activitycell adhesion mediator activity cell membrane organelle membrane-enclosed lumen supramolecular complex cell junction cell membrane organelle membrane-enclosed lumen supramolecular complex cell junction cell membrane organelle membrane-enclosed lumen supramolecular complex cell junction cell membrane organelle membrane-enclosed lumen supramolecular complex cell junction cell membrane organelle membrane-enclosed lumen supramolecular complex cell junction cell membrane organelle membrane-enclosed lumen supramolecular complex cell junction cell membrane organelle membrane-enclosed lumen supramolecular complex cell junction cell membrane organelle membrane-enclosed lumen supramolecular complex cell junction cell membrane organelle membrane-enclosed lumen supramolecular complex cell junction cell membrane organelle membrane-enclosed lumen supramolecular complex cell junction cellcell membranemembrane organelleorganelle membrane-enclosed lumenmembrane-enclosed lumen supramolecular complexsupramolecular complex cell junctioncell junction
Pathways (from Reactome )Phenotype (from MGI , Zfin or HPO ) Abnormality of the cardiovascular system Abnormality of the cardiovascular system Abnormality of the cardiovascular system Abnormality of the cardiovascular system Abnormality of the cardiovascular system Abnormality of the cardiovascular system Abnormality of the cardiovascular system Abnormality of the cardiovascular system Abnormality of the cardiovascular system Abnormality of the cardiovascular system Abnormality of the cardiovascular systemAbnormality of the cardiovascular system HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show HP:0001279 Syncope "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators]
Show HP:0001645 Sudden cardiac death
Show HP:0001962 Palpitations
Show HP:0002617 Aneurysm
Show HP:0004308 Ventricular arrhythmia
Show HP:0006698 Ventricular aneurysms
Show HP:0011663 Arrhythmogenic right ventricular cardiomyopathy "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria." [pmid:17916581]
Show
Interacting proteins (from Reactome )No match
0 s.
