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:0071300 | cellular response to retinoic acid |
| Biological Process | GO:0001701 | in utero embryonic development |
| Biological Process | GO:0001890 | placenta development |
| Biological Process | GO:0043588 | skin development |
| Biological Process | GO:0007283 | spermatogenesis |
| Molecular Function | GO:0005243 | gap junction channel activity |
| Cellular Component | GO:0030054 | cell junction |
| Cellular Component | GO:0005922 | connexin complex |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005921 | gap junction |
| Cellular Component | GO:0043231 | intracellular membrane-bounded organelle |
| 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:0000035 | Abnormal testis morphology |
| HP:0000252 | Microcephaly |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000411 | Protruding ear |
| HP:0000501 | Glaucoma |
| HP:0000518 | Cataract |
| HP:0000819 | Diabetes mellitus |
| HP:0000958 | Dry skin |
| HP:0000962 | Hyperkeratosis |
| HP:0000988 | Skin rash |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0001019 | Erythroderma |
| HP:0001034 | Hypermelanotic macule |
| HP:0001156 | Brachydactyly |
| HP:0001182 | Tapered finger |
| HP:0001249 | Intellectual disability |
| HP:0001595 | Abnormal hair morphology |
| HP:0001596 | Alopecia |
| HP:0001597 | Abnormality of the nail |
| HP:0001751 | Abnormal vestibular function |
| HP:0001824 | Weight loss |
| HP:0002230 | Generalized hirsutism |
| HP:0003593 | Infantile onset |
| HP:0004322 | Short stature |
| HP:0005101 | High-frequency hearing impairment |
| HP:0005588 | Patchy palmoplantar hyperkeratosis |
| HP:0005595 | Generalized hyperkeratosis |
| HP:0007400 | Irregular hyperpigmentation |
| HP:0007957 | Corneal opacity |
| HP:0008066 | Abnormal blistering of the skin |
| HP:0008069 | Neoplasm of the skin |
| HP:0010783 | Erythema |
| HP:0010984 | Digenic inheritance |
| HP:0012733 | Macule |
| HP:0025092 | Epidermal acanthosis |
| HP:0025114 | Hypergranulosis |
| HP:0030680 | Abnormality of cardiovascular system morphology |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| autosomal recessive nonsyndromic hearing loss 1a | MONDO:0009076 | H90 | chapter8, Diseases of the ear and mastoid process | OMIM:220290 | |
| autosomal dominant nonsyndromic hearing loss 2b | MONDO:0012976 | H90 | chapter8, Diseases of the ear and mastoid process | OMIM:612644 | |
| neuropathy with hearing impairment | MONDO:0015351 | G60 | chapter6, Diseases of the nervous system | Orphanet:139512 | |
| erythrokeratodermia variabilis et progressiva 1 | MONDO:0033010 | Q82 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:133200 | Orphanet:495 |