Gene
fkbp14
- ID
- ZDB-GENE-040801-210
- Name
- FKBP prolyl isomerase 14
- Symbol
- fkbp14 Nomenclature History
- Previous Names
-
- fd36a03
- wu:fd36a03
- zgc:91851
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity and peptidyl-prolyl cis-trans isomerase activity. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome. Is expressed in notochord. Orthologous to human FKBP14 (FKBP prolyl isomerase 14).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6906378 (2 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Ehlers-Danlos syndrome kyphoscoliotic type 2 | Alliance | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 614557 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Domain | IPR001179 | FKBP-type peptidyl-prolyl cis-trans isomerase domain |
| Domain | IPR002048 | EF-hand domain |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR046357 | Peptidyl-prolyl cis-trans isomerase domain superfamily |
Domain Details Per Protein
| Protein | Length | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | FKBP-type peptidyl-prolyl cis-trans isomerase domain | Peptidyl-prolyl cis-trans isomerase domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:Q6DBV9
|
211 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
fkbp14-201
(1)
|
Havana | 1806 nt | |
| ncRNA |
fkbp14-002
(1)
|
Havana | 692 nt |
Interactions and Pathways
No data available
Plasmids
No data available