Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0086053 | AV node cell to bundle of His cell communication by electrical coupling |
| Biological Process | GO:0086055 | Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling |
| Biological Process | GO:0086021 | SA node cell to atrial cardiac muscle cell communication by electrical coupling |
| Biological Process | GO:0001525 | angiogenesis |
| Biological Process | GO:0048844 | artery morphogenesis |
| Biological Process | GO:0086044 | atrial cardiac muscle cell to AV node cell communication by electrical coupling |
| Biological Process | GO:0003283 | atrial septum development |
| Biological Process | GO:0086054 | bundle of His cell to Purkinje myocyte communication by electrical coupling |
| Biological Process | GO:0003161 | cardiac conduction system development |
| Biological Process | GO:0010643 | cell communication by chemical coupling |
| Biological Process | GO:0086064 | cell communication by electrical coupling involved in cardiac conduction |
| Biological Process | GO:0007267 | cell-cell signaling |
| Biological Process | GO:0003158 | endothelium development |
| Biological Process | GO:0016264 | gap junction assembly |
| Biological Process | GO:0007507 | heart development |
| Biological Process | GO:0003174 | mitral valve development |
| Biological Process | GO:0045776 | negative regulation of blood pressure |
| Biological Process | GO:0003105 | negative regulation of glomerular filtration |
| Biological Process | GO:0003151 | outflow tract morphogenesis |
| Biological Process | GO:0010652 | positive regulation of cell communication by chemical coupling |
| Biological Process | GO:0045907 | positive regulation of vasoconstriction |
| Biological Process | GO:0006813 | potassium ion transport |
| Biological Process | GO:0003193 | pulmonary valve formation |
| Biological Process | GO:0098904 | regulation of AV node cell action potential |
| Biological Process | GO:0098906 | regulation of Purkinje myocyte action potential |
| Biological Process | GO:0098910 | regulation of atrial cardiac muscle cell action potential |
| Biological Process | GO:0060371 | regulation of atrial cardiac muscle cell membrane depolarization |
| Biological Process | GO:0098905 | regulation of bundle of His cell action potential |
| Biological Process | GO:0055117 | regulation of cardiac muscle contraction |
| Biological Process | GO:0010649 | regulation of cell communication by electrical coupling |
| Biological Process | GO:0060373 | regulation of ventricular cardiac muscle cell membrane depolarization |
| Biological Process | GO:0060307 | regulation of ventricular cardiac muscle cell membrane repolarization |
| Biological Process | GO:0042311 | vasodilation |
| Biological Process | GO:1990029 | vasomotion |
| Biological Process | GO:0003281 | ventricular septum development |
| Molecular Function | GO:0071253 | connexin binding |
| Molecular Function | GO:0097718 | disordered domain specific binding |
| Molecular Function | GO:0086077 | gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling |
| Molecular Function | GO:0086079 | gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling |
| Molecular Function | GO:0086020 | gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling |
| Molecular Function | GO:0086076 | gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling |
| Molecular Function | GO:0086078 | gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling |
| Molecular Function | GO:0086075 | gap junction channel activity involved in cardiac conduction electrical coupling |
| Molecular Function | GO:0055077 | gap junction hemi-channel activity |
| Cellular Component | GO:0042995 | cell projection |
| Cellular Component | GO:0005922 | connexin complex |
| Cellular Component | GO:0005921 | gap junction |
| Cellular Component | GO:0014704 | intercalated disc |
| Cellular Component | GO:0005886 | plasma membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR000500 | Connexin |
| IPR002264 | Gap junction alpha-5 protein (Cx40) |
| IPR013092 | Connexin, N-terminal |
| IPR017990 | Connexin, conserved site |
| IPR019570 | Gap junction protein, cysteine-rich domain |
| IPR031862 | Gap junction alpha-5 protein (Cx40), C-terminal |
| IPR034634 | Connexin, C-terminal |
| IPR038359 | Connexin, N-terminal domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF00029 | Connexin |
| PF16791 | Connexin 40 C-terminal domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-190861 | Gap junction assembly | Internal node | R-HSA-5653656 | Vesicle-mediated transport |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000193 | Bifid uvula |
| HP:0000218 | High palate |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000233 | Thin vermilion border |
| HP:0000248 | Brachycephaly |
| HP:0000252 | Microcephaly |
| HP:0000262 | Turricephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000269 | Prominent occiput |
| HP:0000272 | Malar flattening |
| HP:0000286 | Epicanthus |
| HP:0000303 | Mandibular prognathia |
| HP:0000307 | Pointed chin |
| HP:0000311 | Round face |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000325 | Triangular face |
| HP:0000337 | Broad forehead |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000369 | Low-set ears |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000411 | Protruding ear |
| HP:0000414 | Bulbous nose |
| HP:0000426 | Prominent nasal bridge |
| HP:0000448 | Prominent nose |
| HP:0000463 | Anteverted nares |
| HP:0000470 | Short neck |
| HP:0000486 | Strabismus |
| HP:0000490 | Deeply set eye |
| HP:0000518 | Cataract |
| HP:0000520 | Proptosis |
| HP:0000540 | Hypermetropia |
| HP:0000568 | Microphthalmia |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000601 | Hypotelorism |
| HP:0000664 | Synophrys |
| HP:0000687 | Widely spaced teeth |
| HP:0000691 | Microdontia |
| HP:0000708 | Atypical behavior |
| HP:0000717 | Autism |
| HP:0000733 | Abnormal repetitive mannerisms |
| HP:0000750 | Delayed speech and language development |
| HP:0000767 | Pectus excavatum |
| HP:0000954 | Single transverse palmar crease |
| HP:0001156 | Brachydactyly |
| HP:0001212 | Prominent fingertip pads |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001337 | Tremor |
| HP:0001382 | Joint hypermobility |
| HP:0001388 | Joint laxity |
| HP:0001508 | Failure to thrive |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001631 | Atrial septal defect |
| HP:0001636 | Tetralogy of Fallot |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001647 | Bicuspid aortic valve |
| HP:0001659 | Aortic regurgitation |
| HP:0001660 | Truncus arteriosus |
| HP:0001669 | Transposition of the great arteries |
| HP:0001680 | Coarctation of aorta |
| HP:0001706 | Endocardial fibroelastosis |
| HP:0001763 | Pes planus |
| HP:0001845 | Overlapping toe |
| HP:0001883 | Talipes |
| HP:0001956 | Truncal obesity |
| HP:0002007 | Frontal bossing |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002121 | Generalized non-motor (absence) seizure |
| HP:0002292 | Frontal balding |
| HP:0002553 | Highly arched eyebrow |
| HP:0002650 | Scoliosis |
| HP:0003596 | Middle age onset |
| HP:0003745 | Sporadic |
| HP:0003829 | Typified by incomplete penetrance |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004467 | Preauricular pit |
| HP:0004757 | Paroxysmal atrial fibrillation |
| HP:0004970 | Ascending tubular aorta aneurysm |
| HP:0005105 | Abnormal nasal morphology |
| HP:0005110 | Atrial fibrillation |
| HP:0005155 | Ventricular escape rhythm |
| HP:0005280 | Depressed nasal bridge |
| HP:0005487 | Prominent metopic ridge |
| HP:0006677 | Prolonged QRS complex |
| HP:0006699 | Premature atrial contractions |
| HP:0008936 | Axial hypotonia |
| HP:0009765 | Low hanging columella |
| HP:0009882 | Short distal phalanx of finger |
| HP:0009891 | Underdeveloped supraorbital ridges |
| HP:0009921 | Duane anomaly |
| HP:0009942 | Duplication of thumb phalanx |
| HP:0010055 | Broad hallux |
| HP:0010112 | Mesoaxial foot polydactyly |
| HP:0010695 | Sutural cataract |
| HP:0010698 | Nuclear pulverulent cataract |
| HP:0011220 | Prominent forehead |
| HP:0011304 | Broad thumb |
| HP:0011623 | Muscular ventricular septal defect |
| HP:0011682 | Perimembranous ventricular septal defect |
| HP:0011705 | First degree atrioventricular block |
| HP:0012385 | Camptodactyly |
| HP:0012664 | Reduced left ventricular ejection fraction |
| HP:0012745 | Short palpebral fissure |
| HP:0020045 | Esodeviation |
| HP:0020206 | Simple ear |
| HP:0025313 | Exophoria |
| HP:0025478 | Atrial standstill |
| HP:0025493 | Palmoplantar erythema |
| HP:0034308 | Prolonged P wave |
| HP:0040053 | Long lower eyelashes |
| HP:0100716 | Self-injurious behavior |
| HP:0100753 | Schizophrenia |
| HP:0200127 | Atrial cardiomyopathy |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Low | Enhanced |
| appendix | glandular cells | Low | Enhanced |
| bronchus | respiratory epithelial cells | Low | Enhanced |
| caudate | neuronal cells | Low | Enhanced |
| cerebellum | Purkinje cells | Medium | Enhanced |
| colon | endothelial cells | Medium | Enhanced |
| duodenum | glandular cells | Medium | Enhanced |
| fallopian tube | glandular cells | Low | Enhanced |
| gallbladder | glandular cells | Low | Enhanced |
| kidney | cells in glomeruli | Medium | Enhanced |
| kidney | proximal tubules (cell body) | Low | Enhanced |
| liver | hepatocytes | Low | Enhanced |
| placenta | cytotrophoblasts | High | Enhanced |
| placenta | hofbauer cells | Low | Enhanced |
| placenta | syncytiotrophoblasts - cell body | High | Enhanced |
| prostate | glandular cells | Low | Enhanced |
| skeletal muscle | myocytes | Low | Enhanced |
| small intestine | glandular cells | Low | Enhanced |
| stomach 1 | glandular cells | Low | Enhanced |
| stomach 2 | glandular cells | Low | Enhanced |
| testis | cells in seminiferous ducts | Medium | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| atrial standstill 1 | MONDO:0007171 | I45 | chapter9, Diseases of the circulatory system | OMIM:108770 | |
| atrial fibrillation, familial, 11 | MONDO:0013544 | I48 | chapter9, Diseases of the circulatory system | OMIM:614049 |