Gene
ift172
- ID
- ZDB-GENE-040827-1
- Name
- intraflagellar transport 172
- Symbol
- ift172 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Involved in several processes, including animal organ development; photoreceptor cell maintenance; and regulation of TOR signaling. Predicted to localize to axoneme; ciliary basal body; and intraciliary transport particle B. Used to study cystic kidney disease. Human ortholog(s) of this gene implicated in retinitis pigmentosa 71 and short-rib thoracic dysplasia 10 with or without polydactyly. Orthologous to human IFT172 (intraflagellar transport 172).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Zhu et al., 2021
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 28 figures from 17 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Bardet-Biedl syndrome 20 | Alliance | Bardet-Biedl syndrome 20 | 619471 |
retinitis pigmentosa 71 | Alliance | Retinitis pigmentosa 71 | 616394 |
short-rib thoracic dysplasia 10 with or without polydactyly | Alliance | Short-rib thoracic dysplasia 10 with or without polydactyly | 615630 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
cystic kidney disease | li1Tg + MO3-ift172 | control | Pandey et al., 2019 |
polycystic kidney disease | ift172hi2211Tg/hi2211Tg (AB/TU) | standard conditions | Cao et al., 2009 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | WD40 repeat | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
---|---|---|---|---|
UniProtKB:Q5RHH4
|
1745 | |||
UniProtKB:B3DK94
|
1745 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
ift172-201
(1)
|
Ensembl | 5,655 nt |
Interactions and Pathways
No data available
Plasmids
No data available