Gene
wdr19
- ID
- ZDB-GENE-090313-277
- Name
- WD repeat domain 19
- Symbol
- wdr19 Nomenclature History
- Previous Names
-
- si:dkey-251e24.6
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Acts upstream of or within cilium assembly. Predicted to be part of intraciliary transport particle A. Predicted to be active in cilium. Human ortholog(s) of this gene implicated in several diseases, including Caroli disease; Senior-Loken syndrome; asphyxiating thoracic dystrophy 5; cranioectodermal dysplasia 4; and nephronophthisis 13. Orthologous to human WDR19 (WD repeat domain 19).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Ryan et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
asphyxiating thoracic dystrophy 5 | Alliance | Short-rib thoracic dysplasia 5 with or without polydactyly | 614376 |
cranioectodermal dysplasia 4 | Alliance | Cranioectodermal dysplasia 4 | 614378 |
nephronophthisis 13 | Alliance | Nephronophthisis 13 | 614377 |
spermatogenic failure 72 | Alliance | ?Spermatogenic failure 72 | 619867 |
Senior-Loken syndrome 8 | 616307 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR024977 | Anaphase-promoting complex subunit 4-like, WD40 domain |
Family | IPR040379 | WD repeat-containing protein 19/dyf-2 |
Homologous_superfamily | IPR011990 | Tetratricopeptide-like helical domain superfamily |
Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
Repeat | IPR001680 | WD40 repeat |
Domain Details Per Protein
Protein | Additional Resources | Length | Anaphase-promoting complex subunit 4-like, WD40 domain | Tetratricopeptide-like helical domain superfamily | WD40 repeat | WD40/YVTN repeat-like-containing domain superfamily | WD repeat-containing protein 19/dyf-2 |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9PX63 | InterPro | 1345 | |||||
UniProtKB:A0A8M9Q0I2 | InterPro | 1348 | |||||
UniProtKB:A0A8M9QEB4 | InterPro | 1345 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
wdr19-201
(1)
|
Ensembl | 4,352 nt | ||
mRNA |
wdr19-202
(1)
|
Ensembl | 724 nt | ||
mRNA |
wdr19-204
(1)
|
Ensembl | 4,119 nt | ||
mRNA |
wdr19-205
(1)
|
Ensembl | 390 nt | ||
mRNA |
wdr19-206
(1)
|
Ensembl | 324 nt | ||
mRNA |
wdr19-207
(1)
|
Ensembl | 2,574 nt | ||
ncRNA |
wdr19-003
(1)
|
Ensembl | 501 nt |
Interactions and Pathways
No data available
Plasmids
No data available