Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 5KK9 | Connexin 32 G12R N-Terminal Mutant, |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0007267 | cell-cell signaling |
| Biological Process | GO:1905867 | epididymis development |
| Biological Process | GO:0016264 | gap junction assembly |
| Biological Process | GO:0007399 | nervous system development |
| Biological Process | GO:0015868 | purine ribonucleotide transport |
| Molecular Function | GO:0005243 | gap junction channel activity |
| Molecular Function | GO:0042802 | identical protein binding |
| Cellular Component | GO:0005922 | connexin complex |
| Cellular Component | GO:0005789 | endoplasmic reticulum membrane |
| Cellular Component | GO:0016328 | lateral plasma membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-190704 | Oligomerization of connexins into connexons | Leaf | R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-190827 | Transport of connexins along the secretory pathway | Leaf | R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-190861 | Gap junction assembly | Internal node | R-HSA-5653656 | Vesicle-mediated transport |
| HPO ID
|
HPO name |
|---|---|
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000639 | Nystagmus |
| HP:0000763 | Sensory neuropathy |
| HP:0000764 | Peripheral axonal degeneration |
| HP:0001152 | Saccadic smooth pursuit |
| HP:0001251 | Ataxia |
| HP:0001260 | Dysarthria |
| HP:0001262 | Excessive daytime somnolence |
| HP:0001265 | Hyporeflexia |
| HP:0001270 | Motor delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001284 | Areflexia |
| HP:0001288 | Gait disturbance |
| HP:0001310 | Dysmetria |
| HP:0001337 | Tremor |
| HP:0001347 | Hyperreflexia |
| HP:0001423 | X-linked dominant inheritance |
| HP:0001761 | Pes cavus |
| HP:0001771 | Achilles tendon contracture |
| HP:0002015 | Dysphagia |
| HP:0002070 | Limb ataxia |
| HP:0002073 | Progressive cerebellar ataxia |
| HP:0002075 | Dysdiadochokinesis |
| HP:0002080 | Intention tremor |
| HP:0002311 | Incoordination |
| HP:0002312 | Clumsiness |
| HP:0002317 | Unsteady gait |
| HP:0002355 | Difficulty walking |
| HP:0002359 | Frequent falls |
| HP:0002378 | Hand tremor |
| HP:0002385 | Paraparesis |
| HP:0002395 | Lower limb hyperreflexia |
| HP:0002427 | Expressive aphasia |
| HP:0002460 | Distal muscle weakness |
| HP:0002463 | Language impairment |
| HP:0002464 | Spastic dysarthria |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002503 | Spinocerebellar tract degeneration |
| HP:0002650 | Scoliosis |
| HP:0002808 | Kyphosis |
| HP:0002936 | Distal sensory impairment |
| HP:0003380 | Decreased number of peripheral myelinated nerve fibers |
| HP:0003383 | Onion bulb formation |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0003438 | Absent Achilles reflex |
| HP:0003445 | EMG: neuropathic changes |
| HP:0003447 | Axonal loss |
| HP:0003487 | Babinski sign |
| HP:0003677 | Slowly progressive |
| HP:0003829 | Typified by incomplete penetrance |
| HP:0006855 | Cerebellar vermis atrophy |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0007149 | Distal upper limb amyotrophy |
| HP:0007240 | Progressive gait ataxia |
| HP:0007328 | Impaired pain sensation |
| HP:0008944 | Distal lower limb amyotrophy |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0009830 | Peripheral neuropathy |
| HP:0030051 | Tip-toe gait |
| HP:0030237 | Hand muscle weakness |
| HP:0040078 | Axonal degeneration |
| HP:0040129 | Abnormal nerve conduction velocity |
| HP:0200101 | Decreased/absent ankle reflexes |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| sensory peripheral neuropathy | MONDO:0002321 | G60 | chapter6, Diseases of the nervous system | ||
| charcot-marie-tooth disease type 3 | MONDO:0007790 | G60 | chapter6, Diseases of the nervous system | OMIM:145900 | Orphanet:64748 |
| x-linked progressive cerebellar ataxia | MONDO:0010547 | G11 | chapter6, Diseases of the nervous system | OMIM:302500 | Orphanet:1175 |
| charcot-marie-tooth disease x-linked dominant 1 | MONDO:0010549 | G60 | chapter6, Diseases of the nervous system | OMIM:302800 | Orphanet:101075 |