Gene
sec24d
- ID
- ZDB-GENE-070117-2501
- Name
- SEC24 homolog D, COPII coat complex component
- Symbol
- sec24d Nomenclature History
- Previous Names
-
- bul
- bulldog (1)
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have zinc ion binding activity. Involved in cartilage morphogenesis; embryonic viscerocranium morphogenesis; and extracellular matrix constituent secretion. Predicted to localize to COPII vesicle coat. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Is expressed in several structures, including immature eye; myotome; nervous system; notochord; and pharyngeal arch cartilage. Orthologous to human SEC24D (SEC24 homolog D, COPII coat complex component).
- 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
- 14 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Cole-Carpenter syndrome | Alliance | Cole-Carpenter syndrome 2 | 616294 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR006895 | Zinc finger, Sec23/Sec24-type |
| Domain | IPR006896 | Sec23/Sec24, trunk domain |
| Domain | IPR006900 | Sec23/Sec24, helical domain |
| Domain | IPR007123 | Gelsolin-like domain |
| Domain | IPR012990 | Sec23/Sec24 beta-sandwich |
| Domain | IPR041742 | Sec24-like, trunk domain |
| Family | IPR050550 | SEC23/SEC24 family, SEC24 subfamily |
| Homologous_superfamily | IPR029006 | ADF-H/Gelsolin-like domain superfamily |
| Homologous_superfamily | IPR036174 | Zinc finger, Sec23/Sec24-type superfamily |
| Homologous_superfamily | IPR036175 | Sec23/Sec24 helical domain superfamily |
| Homologous_superfamily | IPR036180 | Gelsolin-like domain superfamily |
| Homologous_superfamily | IPR036465 | von Willebrand factor A-like domain superfamily |
Domain Details Per Protein
| Protein | Length | ADF-H/Gelsolin-like domain superfamily | Gelsolin-like domain | Gelsolin-like domain superfamily | Sec23/Sec24 beta-sandwich | SEC23/SEC24 family, SEC24 subfamily | Sec23/Sec24, helical domain | Sec23/Sec24 helical domain superfamily | Sec23/Sec24, trunk domain | Sec24-like, trunk domain | von Willebrand factor A-like domain superfamily | Zinc finger, Sec23/Sec24-type | Zinc finger, Sec23/Sec24-type superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QRB4
|
1030 | ||||||||||||
|
UniProtKB:D5LMH4
|
1029 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available