Gene
spata7
- ID
- ZDB-GENE-050419-61
- Name
- spermatogenesis associated 7
- Symbol
- spata7 Nomenclature History
- Previous Names
-
- si:ch211-51o12.1
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to be involved in microtubule cytoskeleton organization and photoreceptor cell maintenance. Predicted to be active in cytoskeleton and photoreceptor cell cilium. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 3. Orthologous to human SPATA7 (spermatogenesis associated 7).
- 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
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Leber congenital amaurosis 3 | Alliance | Leber congenital amaurosis 3 | 604232 |
| Leber congenital amaurosis 3 | Alliance | Retinitis pigmentosa 94, variable age at onset, autosomal recessive | 604232 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR029357 | Spermatogenesis-associated protein 7 |
Domain Details Per Protein
| Protein | Length | Spermatogenesis-associated protein 7 |
|---|---|---|
|
UniProtKB:F1QIV7
|
493 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
spata7-201
(1)
|
Ensembl | 1,937 nt | ||
| mRNA |
spata7-202
(1)
|
Ensembl | 6,033 nt | ||
| mRNA |
spata7-203
(1)
|
Ensembl | 1,851 nt |
Interactions and Pathways
No data available
Plasmids
No data available