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:0007568 | aging |
| Biological Process | GO:0006915 | apoptotic process |
| Biological Process | GO:0007267 | cell-cell signaling |
| Biological Process | GO:0071333 | cellular response to glucose stimulus |
| Biological Process | GO:0042471 | ear morphogenesis |
| Biological Process | GO:0016264 | gap junction assembly |
| Biological Process | GO:1990349 | gap junction-mediated intercellular transport |
| Biological Process | GO:0048839 | inner ear development |
| Biological Process | GO:0035633 | maintenance of blood-brain barrier |
| Biological Process | GO:0008285 | negative regulation of cell population proliferation |
| Biological Process | GO:0051602 | response to electrical stimulus |
| Biological Process | GO:0032496 | response to lipopolysaccharide |
| Biological Process | GO:0007605 | sensory perception of sound |
| Biological Process | GO:0003163 | sinoatrial node development |
| Biological Process | GO:0055085 | transmembrane transport |
| Molecular Function | GO:0051015 | actin filament binding |
| Molecular Function | GO:0048487 | beta-tubulin binding |
| Molecular Function | GO:0005243 | gap junction channel activity |
| Molecular Function | GO:1903763 | gap junction channel activity involved in cell communication by electrical coupling |
| Molecular Function | GO:0008017 | microtubule binding |
| Cellular Component | GO:0005884 | actin filament |
| Cellular Component | GO:0016324 | apical plasma membrane |
| Cellular Component | GO:0030054 | cell junction |
| Cellular Component | GO:0005922 | connexin complex |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005921 | gap junction |
| 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:0000164 | Abnormality of the dentition |
| HP:0000230 | Gingivitis |
| HP:0000365 | Hearing impairment |
| HP:0000381 | Stapes ankylosis |
| HP:0000399 | Prelingual sensorineural hearing impairment |
| HP:0000405 | Conductive hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000408 | Progressive sensorineural hearing impairment |
| HP:0000410 | Mixed hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000491 | Keratitis |
| HP:0000498 | Blepharitis |
| HP:0000509 | Conjunctivitis |
| HP:0000518 | Cataract |
| HP:0000572 | Visual loss |
| HP:0000613 | Photophobia |
| HP:0000653 | Sparse eyelashes |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0000966 | Hypohidrosis |
| HP:0000968 | Ectodermal dysplasia |
| HP:0000972 | Palmoplantar hyperkeratosis |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0001072 | Thickened skin |
| HP:0001097 | Keratoconjunctivitis sicca |
| HP:0001155 | Abnormality of the hand |
| HP:0001305 | Dandy-Walker malformation |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001369 | Arthritis |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001508 | Failure to thrive |
| HP:0001581 | Recurrent skin infections |
| HP:0001596 | Alopecia |
| HP:0001751 | Abnormal vestibular function |
| HP:0001760 | Abnormal foot morphology |
| HP:0001792 | Small nail |
| HP:0001798 | Anonychia |
| HP:0001805 | Onychogryposis |
| HP:0001806 | Onycholysis |
| HP:0001999 | Abnormal facial shape |
| HP:0002164 | Nail dysplasia |
| HP:0002209 | Sparse scalp hair |
| HP:0002213 | Fine hair |
| HP:0002215 | Sparse axillary hair |
| HP:0002217 | Slow-growing hair |
| HP:0002221 | Absent axillary hair |
| HP:0002223 | Absent eyebrow |
| HP:0002225 | Sparse pubic hair |
| HP:0002299 | Brittle hair |
| HP:0002555 | Absent pubic hair |
| HP:0002673 | Coxa valga |
| HP:0002860 | Squamous cell carcinoma |
| HP:0003065 | Patellar hypoplasia |
| HP:0003765 | Psoriasiform dermatitis |
| HP:0003828 | Variable expressivity |
| HP:0004322 | Short stature |
| HP:0004458 | Dilatated internal auditory canal |
| HP:0004528 | Generalized hypotrichosis |
| HP:0004552 | Scarring alopecia of scalp |
| HP:0004779 | Brittle scalp hair |
| HP:0005328 | Progeroid facial appearance |
| HP:0005401 | Recurrent candida infections |
| HP:0005406 | Recurrent bacterial skin infections |
| HP:0005599 | Hypopigmentation of hair |
| HP:0006380 | Knee flexion contracture |
| HP:0007418 | Alopecia totalis |
| HP:0007431 | Congenital ichthyosiform erythroderma |
| HP:0007502 | Follicular hyperkeratosis |
| HP:0008038 | Aplastic/hypoplastic lacrimal glands |
| HP:0008069 | Neoplasm of the skin |
| HP:0008070 | Sparse hair |
| HP:0008138 | Equinus calcaneus |
| HP:0008383 | Slow-growing nails |
| HP:0008404 | Nail dystrophy |
| HP:0008527 | Congenital sensorineural hearing impairment |
| HP:0008615 | Adult onset sensorineural hearing impairment |
| HP:0008625 | Severe sensorineural hearing impairment |
| HP:0008788 | Delayed pubic bone ossification |
| HP:0008897 | Postnatal growth retardation |
| HP:0009830 | Peripheral neuropathy |
| HP:0010984 | Digenic inheritance |
| HP:0011220 | Prominent forehead |
| HP:0011370 | Recurrent cutaneous fungal infections |
| HP:0011496 | Corneal neovascularization |
| HP:0011859 | Punctate keratitis |
| HP:0011911 | Abnormal metacarpophalangeal joint morphology |
| HP:0012758 | Neurodevelopmental delay |
| HP:0012844 | Trichilemmoma |
| HP:0025084 | Folliculitis |
| HP:0025092 | Epidermal acanthosis |
| HP:0025610 | Posterior blepharitis |
| HP:0030318 | Angular cheilitis |
| HP:0030839 | Knee pain |
| HP:0031250 | Lip fissure |
| HP:0031288 | Cobblestone-like hyperkeratosis |
| HP:0032107 | Limbal stem cell deficiency |
| HP:0040154 | Acne inversa |
| HP:0040189 | Scaling skin |
| HP:0045059 | Hyperkeratotic papule |
| HP:0045075 | Sparse eyebrow |
| HP:0100648 | Neoplasm of the tongue |
| HP:0100759 | Clubbing of fingers |
| HP:0100806 | Sepsis |
| HP:0100838 | Recurrent cutaneous abscess formation |
| HP:0200020 | Corneal erosion |
| HP:0200035 | Skin plaque |
| HP:0200036 | Skin nodule |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| clouston syndrome | MONDO:0007510 | Q82 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:129500 | Orphanet:189 |
| autosomal recessive nonsyndromic hearing loss 1a | MONDO:0009076 | H90 | chapter8, Diseases of the ear and mastoid process | OMIM:220290 | |
| x-linked mixed hearing loss with perilymphatic gusher | MONDO:0010576 | H90 | chapter8, Diseases of the ear and mastoid process | OMIM:304400 | Orphanet:383 |
| x-linked mixed hearing loss with perilymphatic gusher | MONDO:0010576 | H91 | chapter8, Diseases of the ear and mastoid process | OMIM:304400 | Orphanet:383 |
| autosomal dominant nonsyndromic hearing loss 3b | MONDO:0012975 | H90 | chapter8, Diseases of the ear and mastoid process | OMIM:612643 | |
| autosomal recessive nonsyndromic hearing loss 1b | MONDO:0012977 | H90 | chapter8, Diseases of the ear and mastoid process | OMIM:612645 | |
| kid syndrome | MONDO:0018781 | Q80 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIMPS:148210 | Orphanet:477 |