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:0007267 | cell-cell signaling |
| Biological Process | GO:1990349 | gap junction-mediated intercellular transport |
| Biological Process | GO:0002088 | lens development in camera-type eye |
| Biological Process | GO:1902551 | regulation of catalase activity |
| Biological Process | GO:1903282 | regulation of glutathione peroxidase activity |
| Biological Process | GO:0032645 | regulation of granulocyte macrophage colony-stimulating factor production |
| Molecular Function | GO:0005243 | gap junction channel activity |
| Molecular Function | GO:0042802 | identical protein binding |
| Cellular Component | GO:0005922 | connexin complex |
| Cellular Component | GO:0005886 | plasma membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR000500 | Connexin |
| IPR002266 | Gap junction alpha-8 protein (Cx50) |
| IPR013092 | Connexin, N-terminal |
| IPR017990 | Connexin, conserved site |
| IPR019570 | Gap junction protein, cysteine-rich domain |
| IPR038359 | Connexin, N-terminal domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF00029 | Connexin |
| PF03509 | Gap junction alpha-8 protein (Cx50) |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-190861 | Gap junction assembly | Internal node | R-HSA-5653656 | Vesicle-mediated transport |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell junction, gap junction | ECO:0000269 | PubMed:18006672 |
| Cell junction, gap junction | ECO:0000269 | PubMed:19756179 |
| Cell membrane | ECO:0000269 | PubMed:16397066 |
| Cell membrane | ECO:0000269 | PubMed:18006672 |
| Cell membrane | ECO:0000269 | PubMed:19756179 |
| Cell membrane | ECO:0000269 | PubMed:26004348 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| 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: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: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:0000482 | Microcornea |
| HP:0000486 | Strabismus |
| HP:0000490 | Deeply set eye |
| HP:0000518 | Cataract |
| HP:0000540 | Hypermetropia |
| HP:0000545 | Myopia |
| HP:0000568 | Microphthalmia |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000601 | Hypotelorism |
| HP:0000612 | Iris coloboma |
| HP:0000639 | Nystagmus |
| 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:0001131 | Corneal dystrophy |
| 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:0001631 | Atrial septal defect |
| 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: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:0003577 | Congenital onset |
| HP:0003745 | Sporadic |
| HP:0003829 | Typified by incomplete penetrance |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004970 | Ascending tubular aorta aneurysm |
| HP:0005280 | Depressed nasal bridge |
| HP:0005487 | Prominent metopic ridge |
| HP:0007787 | Posterior subcapsular cataract |
| HP:0007957 | Corneal opacity |
| HP:0008936 | Axial hypotonia |
| HP:0009765 | Low hanging columella |
| HP:0009882 | Short distal phalanx of finger |
| HP:0009921 | Duane anomaly |
| HP:0009942 | Duplication of thumb phalanx |
| HP:0010055 | Broad hallux |
| HP:0010112 | Mesoaxial foot polydactyly |
| HP:0010693 | Pulverulent cataract |
| 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:0012385 | Camptodactyly |
| HP:0012745 | Short palpebral fissure |
| HP:0020045 | Esodeviation |
| HP:0020206 | Simple ear |
| HP:0025313 | Exophoria |
| HP:0025493 | Palmoplantar erythema |
| HP:0040053 | Long lower eyelashes |
| HP:0100018 | Nuclear cataract |
| HP:0100716 | Self-injurious behavior |
| HP:0100753 | Schizophrenia |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| eye | lens fiber cells | Medium | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| cataract 1 multiple types | MONDO:0007285 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:116200 | Orphanet:1377 |
| cataract 1 multiple types | MONDO:0007285 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:116200 | Orphanet:91492 |
| cataract 1 multiple types | MONDO:0007285 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:116200 | Orphanet:98984 |
| pulverulent cataract | MONDO:0011430 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98984 | |
| pulverulent cataract | MONDO:0011430 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98986 | |
| pulverulent cataract | MONDO:0011430 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98995 | |
| cataract - microcornea syndrome | MONDO:0015300 | Q13 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:1377 | |
| anterior segment dysgenesis | MONDO:0019503 | Q13 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIMPS:107250 | Orphanet:88632 |
| sclerocornea | MONDO:0019629 | Q13 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:91490 | |
| early-onset sutural cataract | MONDO:0020372 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98985 | |
| early-onset nuclear cataract | MONDO:0020376 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98991 | |
| total early-onset cataract | MONDO:0021548 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98994 |