Gene
si:ch211-185a18.2
- ID
- ZDB-GENE-120119-1
- Name
- si:ch211-185a18.2
- Symbol
- si:ch211-185a18.2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Involved in cilium assembly; photoreceptor cell outer segment organization; and smoothened signaling pathway. Localizes to centriole and ciliary basal body. Human ortholog(s) of this gene implicated in Joubert syndrome 23 and short-rib thoracic dysplasia 14 with polydactyly. Is expressed in eye photoreceptor cell. Orthologous to human KIAA0586 (KIAA0586).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Joubert syndrome 23 | Alliance | Joubert syndrome 23 | 616490 |
| short-rib thoracic dysplasia 14 with polydactyly | Alliance | Short-rib thoracic dysplasia 14 with polydactyly | 616546 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR029246 | Protein TALPID3 |
Domain Details Per Protein
| Protein | Length | Protein TALPID3 |
|---|---|---|
|
UniProtKB:H6D7E6
|
1554 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
cu179699.1-201
(1)
|
Havana | 615 nt | |
| mRNA |
si:ch211-185a18.2-202
(1)
|
Havana | 2109 nt | |
| ncRNA |
si:ch211-185a18.2-002
(1)
|
Havana | 288 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-talpid3 | polyclonal | Rabbit |
|
1 |
Plasmids
No data available