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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 |
|---|---|---|
| visual perception |
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular space | ||
| extracellular matrix |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Leucine Rich Repeat
- Functional Category
-
- M: Cell wall/membrane/envelope biogenesis
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| InterPro |
|---|
| Leucine-rich repeat domain superfamily |
| Leucine-rich repeat, typical subtype |
| Leucine-rich repeat |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110870 | congenital stationary night blindness 1A | |
| DOID:8499 | night blindness |
- 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 | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 10446 | WB:WBGene00020693 | ||
| 16979 | WB:WBGene00020693 | ||
| 16980 | WB:WBGene00020693 | ||
| 16981 | WB:WBGene00020693 | ||
| 17079 | WB:WBGene00020693 | ||
| 29195 | WB:WBGene00020693 | ||
| 54674 | WB:WBGene00020693 | ||
| 57633 | WB:WBGene00020693 | ||
| 60506 | Xenbase:XB-GENE-949924 | ||
| 81514 | WB:WBGene00020693 |
