Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 3IFQ | 2.8 | Interction of plakoglobin and beta-catenin with desmosomal cadherins |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0086073 | bundle of His cell-Purkinje myocyte adhesion involved in cell communication |
| Biological Process | GO:0060070 | canonical Wnt signaling pathway |
| Biological Process | GO:0016477 | cell migration |
| Biological Process | GO:0098609 | cell-cell adhesion |
| Biological Process | GO:0071681 | cellular response to indole-3-methanol |
| Biological Process | GO:0002159 | desmosome assembly |
| Biological Process | GO:0050982 | detection of mechanical stimulus |
| Biological Process | GO:0071603 | endothelial cell-cell adhesion |
| Biological Process | GO:0043537 | negative regulation of blood vessel endothelial cell migration |
| Biological Process | GO:0051091 | positive regulation of DNA-binding transcription factor activity |
| Biological Process | GO:0045766 | positive regulation of angiogenesis |
| Biological Process | GO:0090263 | positive regulation of canonical Wnt signaling pathway |
| Biological Process | GO:0001954 | positive regulation of cell-matrix adhesion |
| Biological Process | GO:0042307 | positive regulation of protein import into nucleus |
| Biological Process | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| Biological Process | GO:0072659 | protein localization to plasma membrane |
| Biological Process | GO:0042127 | regulation of cell population proliferation |
| Biological Process | GO:0086091 | regulation of heart rate by cardiac conduction |
| Biological Process | GO:0098911 | regulation of ventricular cardiac muscle cell action potential |
| Biological Process | GO:0043588 | skin development |
| Molecular Function | GO:0140297 | DNA-binding transcription factor binding |
| Molecular Function | GO:0045294 | alpha-catenin binding |
| Molecular Function | GO:0045296 | cadherin binding |
| Molecular Function | GO:0050839 | cell adhesion molecule binding |
| Molecular Function | GO:0086083 | cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication |
| Molecular Function | GO:0106006 | cytoskeletal protein-membrane anchor activity |
| Molecular Function | GO:0042803 | protein homodimerization activity |
| Molecular Function | GO:0019903 | protein phosphatase binding |
| Molecular Function | GO:1990782 | protein tyrosine kinase binding |
| Molecular Function | GO:0044877 | protein-containing complex binding |
| Molecular Function | GO:0005198 | structural molecule activity |
| Molecular Function | GO:0003713 | transcription coactivator activity |
| Cellular Component | GO:0030018 | Z disc |
| Cellular Component | GO:0015629 | actin cytoskeleton |
| Cellular Component | GO:0005912 | adherens junction |
| Cellular Component | GO:0016327 | apicolateral plasma membrane |
| Cellular Component | GO:0016342 | catenin complex |
| Cellular Component | GO:0005911 | cell-cell junction |
| Cellular Component | GO:0001533 | cornified envelope |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0009898 | cytoplasmic side of plasma membrane |
| Cellular Component | GO:0005856 | cytoskeleton |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0030057 | desmosome |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005576 | extracellular region |
| Cellular Component | GO:0005916 | fascia adherens |
| Cellular Component | GO:1904813 | ficolin-1-rich granule lumen |
| Cellular Component | GO:0005925 | focal adhesion |
| Cellular Component | GO:0071665 | gamma-catenin-TCF7L2 complex |
| Cellular Component | GO:0014704 | intercalated disc |
| Cellular Component | GO:0005882 | intermediate filament |
| Cellular Component | GO:0016328 | lateral plasma membrane |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0032993 | protein-DNA complex |
| Cellular Component | GO:0035580 | specific granule lumen |
| Cellular Component | GO:0005915 | zonula adherens |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-418990 | Adherens junctions interactions | Internal node | R-HSA-1500931 | Cell-Cell communication |
| R-HSA-5218920 | VEGFR2 mediated vascular permeability | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-6798695 | Neutrophil degranulation | Leaf | R-HSA-168256 | Immune System |
| 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 |
| R-HSA-8980692 | RHOA GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-9013026 | RHOB GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-9013106 | RHOC GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-9013148 | CDC42 GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-9013406 | RHOQ GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-9013407 | RHOH GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-9013409 | RHOJ GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell junction, adherens junction | ECO:0000269 | PubMed:22781308 |
| Cell junction, desmosome | ECO:0000269 | PubMed:22781308 |
| Cytoplasm, cytoskeleton | ECO:0000269 | PubMed:22781308 |
| Membrane | ECO:0000269 | PubMed:11790773 |
| Membrane | ECO:0000269 | PubMed:22781308 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000175 | Cleft palate |
| HP:0000204 | Cleft upper lip |
| HP:0000377 | Abnormal pinna morphology |
| HP:0000561 | Absent eyelashes |
| HP:0000695 | Natal tooth |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0000956 | Acanthosis nigricans |
| HP:0000962 | Hyperkeratosis |
| HP:0000975 | Hyperhidrosis |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0001030 | Fragile skin |
| HP:0001233 | 2-3 finger syndactyly |
| HP:0001279 | Syncope |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001562 | Oligohydramnios |
| HP:0001627 | Abnormal heart morphology |
| HP:0001635 | Congestive heart failure |
| HP:0001638 | Cardiomyopathy |
| HP:0001640 | Cardiomegaly |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001645 | Sudden cardiac death |
| HP:0001699 | Sudden death |
| HP:0001802 | Absent toenail |
| HP:0001806 | Onycholysis |
| HP:0001817 | Absent fingernail |
| HP:0001836 | Camptodactyly of toe |
| HP:0001962 | Palpitations |
| HP:0002209 | Sparse scalp hair |
| HP:0002212 | Curly hair |
| HP:0002223 | Absent eyebrow |
| HP:0002224 | Woolly hair |
| HP:0002231 | Sparse body hair |
| HP:0002298 | Absent hair |
| HP:0002321 | Vertigo |
| HP:0002878 | Respiratory failure |
| HP:0003577 | Congenital onset |
| HP:0003581 | Adult onset |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004308 | Ventricular arrhythmia |
| HP:0004751 | Paroxysmal ventricular tachycardia |
| HP:0004756 | Ventricular tachycardia |
| HP:0005597 | Congenital alopecia totalis |
| HP:0006097 | 3-4 finger syndactyly |
| HP:0006670 | Impaired myocardial contractility |
| HP:0006677 | Prolonged QRS complex |
| HP:0006682 | Premature ventricular contraction |
| HP:0007447 | Diffuse palmoplantar hyperkeratosis |
| HP:0008066 | Abnormal blistering of the skin |
| HP:0008392 | Subungual hyperkeratosis |
| HP:0008404 | Nail dystrophy |
| HP:0010705 | 4-5 finger syndactyly |
| HP:0010719 | Abnormality of hair texture |
| HP:0010872 | T-wave inversion |
| HP:0011039 | Abnormal helix morphology |
| HP:0011663 | Right ventricular cardiomyopathy |
| HP:0011675 | Arrhythmia |
| HP:0011712 | Right bundle branch block |
| HP:0025092 | Epidermal acanthosis |
| HP:0031193 | Abnormal morphology of right ventricular trabeculae |
| HP:0031274 | Hypovolemic shock |
| HP:0031538 | Abnormal dermoepidermal junction morphology |
| HP:0032449 | Abnormal dermoepidermal hemidesmosome morphology |
| HP:0045075 | Sparse eyebrow |
| HP:0100792 | Acantholysis |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Supported |
| appendix | glandular cells | High | Supported |
| bone marrow | hematopoietic cells | Low | Supported |
| breast | glandular cells | High | Supported |
| breast | myoepithelial cells | Medium | Supported |
| bronchus | respiratory epithelial cells | High | Supported |
| cerebellum | synaptic glomeruli - core | Medium | Supported |
| cerebral cortex | neuropil | Medium | Supported |
| cervix | glandular cells | Medium | Supported |
| cervix | squamous epithelial cells | High | Supported |
| colon | endothelial cells | Medium | Supported |
| colon | glandular cells | High | Supported |
| duodenum | glandular cells | High | Supported |
| endometrium 1 | glandular cells | High | Supported |
| endometrium 2 | cells in endometrial stroma | Low | Supported |
| endometrium 2 | glandular cells | Medium | Supported |
| epididymis | glandular cells | High | Supported |
| esophagus | squamous epithelial cells | High | Supported |
| fallopian tube | glandular cells | High | Supported |
| gallbladder | glandular cells | High | Supported |
| heart muscle | cardiomyocytes | High | Supported |
| hippocampus | neuronal cells | Medium | Supported |
| kidney | cells in glomeruli | Medium | Supported |
| kidney | cells in tubules | High | Supported |
| liver | cholangiocytes | High | Supported |
| liver | hepatocytes | Medium | Supported |
| lung | alveolar cells type I | Low | Supported |
| lung | alveolar cells type II | Low | Supported |
| lung | endothelial cells | Medium | Supported |
| nasopharynx | respiratory epithelial cells | High | Supported |
| oral mucosa | squamous epithelial cells | High | Supported |
| ovary | follicle cells | Medium | Supported |
| ovary | ovarian stroma cells | Medium | Supported |
| pancreas | exocrine glandular cells | High | Supported |
| pancreas | pancreatic endocrine cells | Medium | Supported |
| placenta | cytotrophoblasts | High | Supported |
| placenta | endothelial cells | Medium | Supported |
| placenta | hofbauer cells | High | Supported |
| placenta | syncytiotrophoblasts - cell body | Medium | Supported |
| prostate | glandular cells | High | Supported |
| rectum | glandular cells | High | Supported |
| salivary gland | glandular cells | High | Supported |
| seminal vesicle | glandular cells | High | Supported |
| skin 1 | cells in basal layer | High | Supported |
| skin 1 | cells in granular layer | High | Supported |
| skin 1 | cells in spinous layer | High | Supported |
| skin 2 | cells in basal layer | High | Supported |
| skin 2 | cells in granular layer | High | Supported |
| skin 2 | cells in spinous layer | High | Supported |
| skin 2 | endothelial cells | Low | Supported |
| skin 2 | hair follicles | High | Supported |
| small intestine | glandular cells | High | Supported |
| soft tissue 1 | fibroblasts | Low | Supported |
| stomach 1 | glandular cells | High | Supported |
| stomach 2 | glandular cells | High | Supported |
| testis | Leydig cells | Medium | Supported |
| testis | sertoli cells | Medium | Supported |
| thyroid gland | glandular cells | High | Supported |
| tonsil | germinal center cells | Low | Supported |
| tonsil | squamous epithelial cells | High | Supported |
| urinary bladder | urothelial cells | High | Supported |
| vagina | squamous epithelial cells | High | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| naxos disease | MONDO:0011017 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:601214 | Orphanet:34217 |
| lethal acantholytic epidermolysis bullosa | MONDO:0012323 | Q81 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:609638 | Orphanet:158687 |
| arrhythmogenic right ventricular dysplasia 12 | MONDO:0012684 | I42 | chapter9, Diseases of the circulatory system | OMIM:611528 | |
| 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 |