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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
nyctalopin
Summary
- Gene Symbol
-
- NYX
- Aliases
-
- CLRP
- CSNB1A
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Congenital stationary night blindness
- Disease variant
- Extracellular matrix
- Leucine-rich repeat
- Proteoglycan
- Reference proteome
- Repeat
- Signal
- Vision
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9GZU5 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| biological_process | ||
| visual perception |
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular matrix | ||
| extracellular space |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| molecular_function |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- kinase
- Functional Category
-
- O: Posttranslational modification, protein turnover, chaperones
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
| InterPro |
|---|
| Leucine-rich repeat domain superfamily |
| Leucine-rich repeat, typical subtype |
| Leucine-rich repeat |
Disease
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000486 | Strabismus |
| HP:0000540 | Hypermetropia |
| HP:0000545 | Myopia |
| HP:0000551 | Color vision defect |
| HP:0000639 | Nystagmus |
| HP:0000662 | Nyctalopia |
| HP:0001419 | X-linked recessive inheritance |
| HP:0007642 | Congenital stationary night blindness |
| HP:0007663 | Reduced visual acuity |
| HP:0007703 | Abnormality of retinal pigmentation |
| Disease ID | Disease Name |
|---|---|
| OMIM:310500 |
|
| ORPHA:215 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 118283155 | SCOMX07648 | |||
| 118888894 | BALMU19084 | |||
| 123796274 | URSAM23939 | |||
| 129025127 | 9600_0:0051b7 |
