Structure
GO term
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 |
Showing 1 to 10 of 49 entries
InterPro / Pfam
| 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 |
Showing 1 to 8 of 8 entries
Reactome
| Reactome
| Reactome Name | Node type
| Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-190861 | Gap junction assembly | Internal node | R-HSA-5653656 | Vesicle-mediated transport |
Showing 1 to 1 of 1 entries
Interactor | Variant | Drug
Phenotype
| 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 |
Showing 1 to 10 of 120 entries
Tissue and cell type
| 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 |
Showing 1 to 10 of 21 entries
Disease
| Disease name | MONDO ID
| ICD10
| ICD10 chapter
| OMIM
| Orphanet
|
|---|---|---|---|---|---|
| atrial fibrillation, familial, 11 | MONDO:0013544 | I48 | chapter9, Diseases of the circulatory system | OMIM:614049 | |
| atrial standstill 1 | MONDO:0007171 | I45 | chapter9, Diseases of the circulatory system | OMIM:108770 |
Showing 1 to 2 of 2 entries