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phosphodiesterase 6B
Summary
- Gene Symbol
-
- PDE6B
- Aliases
-
- CSNB3
- CSNBAD2
- RP40
- congenital stationary night blindness 3, autosomal dominant
- rd1
- rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Acetylation
- Alternative splicing
- Cell projection
- Coiled coil
- Congenital stationary night blindness
- Disease variant
- Hydrolase
- Magnesium
- Manganese
- Membrane
- Metal-binding
- Prenylation
- Proteomics identification
- Reference proteome
- Repeat
- Retinitis pigmentosa
- Vision
- Zinc
- cGMP
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| signal transduction |
|
|
| visual perception |
|
|
| visual perception |
|
|
| visual perception |
|
|
| phototransduction, visible light |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| photoreceptor outer segment |
|
|
| plasma membrane |
|
|
| membrane |
|
|
| photoreceptor outer segment membrane |
|
|
| photoreceptor outer segment membrane |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| 3',5'-cyclic-nucleotide phosphodiesterase activity |
|
|
| 3',5'-cyclic-AMP phosphodiesterase activity |
|
|
| phosphoric diester hydrolase activity |
|
|
| metal ion binding |
|
|
| 3',5'-cyclic-GMP phosphodiesterase activity |
|
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Phosphodiesterase
- Functional Category
-
- E: Amino acid transport and metabolism
- G: Carbohydrate transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| 3',5'-cyclic-nucleotide phosphodiesterase activity |
| hydrolase activity |
| metal ion binding |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110375 | retinitis pigmentosa 40 | |
| DOID:0110863 | congenital stationary night blindness autosomal dominant 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000035 | Abnormal testis morphology |
| HP:0000135 | Hypogonadism |
| HP:0000405 | Conductive hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000501 | Glaucoma |
| HP:0000505 | Visual impairment |
| HP:0000510 | Rod-cone dystrophy |
| Disease ID | Disease Name |
|---|---|
| ORPHA:215 |
|
| OMIM:163500 |
|
| OMIM:613801 |
|
| ORPHA:791 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
