Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 3TT9 | 1.55 | Crystal structure of the stable degradation fragment of human plakophilin 2 isoform a (PKP2a) C752R variant |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0086073 | bundle of His cell-Purkinje myocyte adhesion involved in cell communication |
| Biological Process | GO:0086002 | cardiac muscle cell action potential involved in contraction |
| Biological Process | GO:0086064 | cell communication by electrical coupling involved in cardiac conduction |
| Biological Process | GO:0098609 | cell-cell adhesion |
| Biological Process | GO:0007043 | cell-cell junction assembly |
| Biological Process | GO:0086019 | cell-cell signaling involved in cardiac conduction |
| Biological Process | GO:0002159 | desmosome assembly |
| Biological Process | GO:0002934 | desmosome organization |
| Biological Process | GO:0007507 | heart development |
| Biological Process | GO:0045110 | intermediate filament bundle assembly |
| Biological Process | GO:0048496 | maintenance of animal organ identity |
| Biological Process | GO:0010765 | positive regulation of sodium ion transport |
| Biological Process | GO:0072659 | protein localization to plasma membrane |
| Biological Process | GO:0010810 | regulation of cell-substrate adhesion |
| Biological Process | GO:0086091 | regulation of heart rate by cardiac conduction |
| Biological Process | GO:1900024 | regulation of substrate adhesion-dependent cell spreading |
| Biological Process | GO:0098911 | regulation of ventricular cardiac muscle cell action potential |
| Biological Process | GO:0086005 | ventricular cardiac muscle cell action potential |
| Biological Process | GO:0055010 | ventricular cardiac muscle tissue morphogenesis |
| Molecular Function | GO:0045294 | alpha-catenin binding |
| Molecular Function | GO:0045296 | cadherin binding |
| Molecular Function | GO:0086083 | cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication |
| Molecular Function | GO:0019215 | intermediate filament binding |
| Molecular Function | GO:0060090 | molecular adaptor activity |
| Molecular Function | GO:0005080 | protein kinase C binding |
| Molecular Function | GO:0017080 | sodium channel regulator activity |
| Molecular Function | GO:0044325 | transmembrane transporter binding |
| Cellular Component | GO:0005912 | adherens junction |
| Cellular Component | GO:0030054 | cell junction |
| Cellular Component | GO:0005911 | cell-cell junction |
| Cellular Component | GO:0001533 | cornified envelope |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0030057 | desmosome |
| Cellular Component | GO:0014704 | intercalated disc |
| Cellular Component | GO:0005882 | intermediate filament |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0005886 | plasma membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-6805567 | Keratinization | Internal node | R-HSA-1266738 | Developmental Biology |
| R-HSA-6809371 | Formation of the cornified envelope | Leaf | R-HSA-1266738 | Developmental Biology |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell junction | ECO:0000269 | PubMed:28169297 |
| Cell junction, desmosome | ECO:0000269 | PubMed:19533476 |
| Cell junction, desmosome | ECO:0000269 | PubMed:22781308 |
| Cell junction, desmosome | ECO:0000269 | PubMed:23884246 |
| Cell junction, desmosome | ECO:0000269 | PubMed:34368962 |
| Cytoplasm | ECO:0000269 | PubMed:34368962 |
| Nucleus | ECO:0000269 | PubMed:11416169 |
| Nucleus | ECO:0000269 | PubMed:11790773 |
| Nucleus | ECO:0000269 | PubMed:22781308 |
| Nucleus | ECO:0000269 | PubMed:28169297 |
| Nucleus | ECO:0000269 | PubMed:34368962 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001279 | Syncope |
| HP:0001645 | Sudden cardiac death |
| HP:0001649 | Tachycardia |
| HP:0001663 | Ventricular fibrillation |
| HP:0001695 | Cardiac arrest |
| HP:0001962 | Palpitations |
| HP:0002094 | Dyspnea |
| HP:0004308 | Ventricular arrhythmia |
| HP:0004751 | Paroxysmal ventricular tachycardia |
| HP:0004755 | Supraventricular tachycardia |
| HP:0004756 | Ventricular tachycardia |
| HP:0006677 | Prolonged QRS complex |
| HP:0006682 | Premature ventricular contraction |
| HP:0006698 | Dilatation of the ventricular cavity |
| HP:0011462 | Young adult onset |
| HP:0011663 | Right ventricular cardiomyopathy |
| HP:0011704 | Sick sinus syndrome |
| HP:0011705 | First degree atrioventricular block |
| HP:0011712 | Right bundle branch block |
| HP:0011715 | Trifascicular block |
| HP:0012251 | ST segment elevation |
| HP:0034304 | Epsilon wave |
| HP:0034364 | Fibrofatty replacement of right ventricular myocardium |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Low | Enhanced |
| appendix | glandular cells | Medium | Enhanced |
| breast | glandular cells | Low | Enhanced |
| caudate | glial cells | Low | Enhanced |
| caudate | neuronal cells | Medium | Enhanced |
| cerebellum | Purkinje cells - cytoplasm/membrane | High | Enhanced |
| cerebellum | Purkinje cells - dendrites | High | Enhanced |
| cerebellum | processes in granular layer | High | Enhanced |
| cerebellum | processes in molecular layer | High | Enhanced |
| cerebellum | processes in white matter | High | Enhanced |
| cerebral cortex | neuronal cells | Medium | Enhanced |
| cerebral cortex | neuropil | Low | Enhanced |
| colon | endothelial cells | Medium | Enhanced |
| colon | glandular cells | Medium | Enhanced |
| duodenum | glandular cells | Medium | Enhanced |
| endometrium 1 | glandular cells | Low | Enhanced |
| endometrium 2 | glandular cells | Medium | Enhanced |
| epididymis | glandular cells | Low | Enhanced |
| esophagus | squamous epithelial cells | Low | Enhanced |
| fallopian tube | ciliated cells (cell body) | High | Enhanced |
| fallopian tube | ciliated cells (ciliary rootlets) | High | Enhanced |
| fallopian tube | non-ciliated cells | High | Enhanced |
| gallbladder | glandular cells | Low | Enhanced |
| heart muscle | cardiomyocytes | High | Enhanced |
| hippocampus | neuronal cells | Medium | Enhanced |
| kidney | distal tubules | Low | Enhanced |
| kidney | proximal tubules (microvilli) | Medium | Enhanced |
| lung | macrophages | Low | Enhanced |
| nasopharynx | ciliated cells (ciliary rootlets) | High | Enhanced |
| pancreas | exocrine glandular cells | Low | Enhanced |
| pancreas | pancreatic endocrine cells | Low | Enhanced |
| placenta | trophoblastic cells | Low | Enhanced |
| rectum | glandular cells | Medium | Enhanced |
| salivary gland | glandular cells | Low | Enhanced |
| skeletal muscle | myocytes | Low | Enhanced |
| skin 1 | fibroblasts | Low | Enhanced |
| skin 1 | keratinocytes | Low | Enhanced |
| skin 2 | epidermal cells | Low | Enhanced |
| small intestine | glandular cells | Low | Enhanced |
| stomach 1 | glandular cells | Medium | Enhanced |
| stomach 2 | glandular cells | Medium | Enhanced |
| testis | Leydig cells | Medium | Enhanced |
| testis | cells in seminiferous ducts | Medium | Enhanced |
| thyroid gland | glandular cells | Medium | Enhanced |
| tonsil | germinal center cells | Low | Enhanced |
| tonsil | non-germinal center cells | Low | Enhanced |
| urinary bladder | urothelial cells | Medium | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| arrhythmogenic right ventricular dysplasia 9 | MONDO:0012180 | I42 | chapter9, Diseases of the circulatory system | OMIM:609040 | |
| familial isolated arrhythmogenic ventricular dysplasia, left dominant form | MONDO:0017401 | I42 | chapter9, Diseases of the circulatory system | Orphanet:293888 | |
| familial isolated arrhythmogenic ventricular dysplasia, biventricular form | MONDO:0017402 | I42 | chapter9, Diseases of the circulatory system | Orphanet:293899 | |
| familial isolated arrhythmogenic ventricular dysplasia, right dominant form | MONDO:0017403 | I42 | chapter9, Diseases of the circulatory system | Orphanet:293910 | |
| left ventricular noncompaction | MONDO:0018901 | I42 | chapter9, Diseases of the circulatory system | OMIMPS:604169 | Orphanet:54260 |