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:0007420 | brain development |
| Biological Process | GO:0010644 | cell communication by electrical coupling |
| Biological Process | GO:0007267 | cell-cell signaling |
| Biological Process | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle |
| Biological Process | GO:1904427 | positive regulation of calcium ion transmembrane transport |
| Biological Process | GO:0010628 | positive regulation of gene expression |
| Biological Process | GO:0070447 | positive regulation of oligodendrocyte progenitor proliferation |
| Biological Process | GO:0001932 | regulation of protein phosphorylation |
| Biological Process | GO:0009636 | response to toxic substance |
| Molecular Function | GO:0005243 | gap junction channel activity |
| Molecular Function | GO:1903763 | gap junction channel activity involved in cell communication by electrical coupling |
| Cellular Component | GO:0005922 | connexin complex |
| Cellular Component | GO:0005921 | gap junction |
| Cellular Component | GO:0043209 | myelin sheath |
| Cellular Component | GO:0033270 | paranode region of axon |
| Cellular Component | GO:0043204 | perikaryon |
| Cellular Component | GO:1990769 | proximal neuron projection |
| 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:0000007 | Autosomal recessive inheritance |
| HP:0000020 | Urinary incontinence |
| HP:0000034 | Hydrocele testis |
| HP:0000286 | Epicanthus |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000514 | Slow saccadic eye movements |
| HP:0000545 | Myopia |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000649 | Abnormality of visual evoked potentials |
| HP:0000708 | Atypical behavior |
| HP:0000962 | Hyperkeratosis |
| HP:0001004 | Lymphedema |
| HP:0001055 | Erysipelas |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001258 | Spastic paraplegia |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001266 | Choreoathetosis |
| HP:0001270 | Motor delay |
| HP:0001310 | Dysmetria |
| HP:0001328 | Specific learning disability |
| HP:0001332 | Dystonia |
| HP:0001347 | Hyperreflexia |
| HP:0001581 | Recurrent skin infections |
| HP:0001583 | Rotary nystagmus |
| HP:0001761 | Pes cavus |
| HP:0001785 | Ankle swelling |
| HP:0001999 | Abnormal facial shape |
| HP:0002019 | Constipation |
| HP:0002059 | Cerebral atrophy |
| HP:0002061 | Lower limb spasticity |
| HP:0002063 | Rigidity |
| HP:0002064 | Spastic gait |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002080 | Intention tremor |
| HP:0002191 | Progressive spasticity |
| HP:0002194 | Delayed gross motor development |
| HP:0002313 | Spastic paraparesis |
| HP:0002349 | Focal aware seizure |
| HP:0002355 | Difficulty walking |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0002415 | Leukodystrophy |
| HP:0002421 | Poor head control |
| HP:0002465 | Poor speech |
| HP:0002599 | Head titubation |
| HP:0002619 | Varicose veins |
| HP:0002624 | Abnormal venous morphology |
| HP:0002650 | Scoliosis |
| HP:0002839 | Urinary bladder sphincter dysfunction |
| HP:0002936 | Distal sensory impairment |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0003429 | CNS hypomyelination |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0003474 | Somatic sensory dysfunction |
| HP:0003487 | Babinski sign |
| HP:0003550 | Predominantly lower limb lymphedema |
| HP:0003593 | Infantile onset |
| HP:0003621 | Juvenile onset |
| HP:0003829 | Typified by incomplete penetrance |
| HP:0006808 | Cerebral hypomyelination |
| HP:0006958 | Abnormal auditory evoked potentials |
| HP:0006986 | Upper limb spasticity |
| HP:0007220 | Demyelinating motor neuropathy |
| HP:0007377 | Abnormality of somatosensory evoked potentials |
| HP:0008069 | Neoplasm of the skin |
| HP:0008936 | Axial hypotonia |
| HP:0010628 | Facial palsy |
| HP:0010741 | Pedal edema |
| HP:0011462 | Young adult onset |
| HP:0011463 | Childhood onset |
| HP:0012896 | Abnormal motor evoked potentials |
| HP:0100543 | Cognitive impairment |
| HP:0100658 | Cellulitis |
| HP:0100725 | Lichenification |
| HP:0100797 | Toenail dysplasia |
| HP:0200058 | Angiosarcoma |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| hypomyelinating leukodystrophy 2 | MONDO:0012125 | E75 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:608804 | Orphanet:280282 |
| hereditary spastic paraplegia 44 | MONDO:0013179 | G11 | chapter6, Diseases of the nervous system | OMIM:613206 | Orphanet:320401 |
| lymphatic malformation 3 | MONDO:0013278 | Q82 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:613480 |