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 enable SNARE binding activity and zinc ion binding activity. Acts upstream of or within cartilage morphogenesis; embryonic viscerocranium morphogenesis; and extracellular matrix constituent secretion. Predicted to be located in cytoplasmic vesicle; cytosol; and endoplasmic reticulum membrane. Predicted to be part of COPII vesicle coat. Predicted to be active in endoplasmic reticulum exit site. Is expressed in several structures, including immature eye; myotome; nervous system; notochord; and pharyngeal arch cartilage. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. 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
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
m137 | unknown | Unknown | Unknown | ENU | |
m421 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
m494 | Allele with one deletion | Exon 7 | Frameshift, Premature Stop | ENU | |
m606 | Allele with one point mutation | Unknown | Splice Site, Frameshift, Premature Stop | ENU | |
m757 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa9139 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa10908 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa18900 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa21148 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa34239 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Cole-Carpenter syndrome | Alliance | Cole-Carpenter syndrome 2 | 616294 |
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Domain, Family, and Site Summary
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 |
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- Genome Browsers
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
sec24d-201
(1)
|
Ensembl | 4,532 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
No data available
- Guillemyn, B., De Saffel, H., Bek, J.W., Tapaneeyaphan, P., De Clercq, A., Jarayseh, T., Debaenst, S., Willaert, A., De Rycke, R., Byers, P.H., Rosseel, T., Coucke, P., Blaumeiser, B., Syx, D., Malfait, F., Symoens, S. (2023) Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 38(11):1718-1730
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Le Corre, S., Eyre, D., Drummond, I.A. (2014) Modulation of the Secretory Pathway Rescues Zebrafish Polycystic Kidney Disease Pathology. Journal of the American Society of Nephrology : JASN. 25(8):1749-59
- Melville, D.B., Montero-Balaguer, M., Levic, D.S., Bradley, K., Smith, J.R., Hatzopoulos, A.K., and Knapik, E.W. (2011) The feelgood mutation in zebrafish dysregulates COPII-dependent secretion of select extracellular matrix proteins in skeletal morphogenesis. Disease models & mechanisms. 4(6):763-76
- Sarmah, S., Barrallo-Gimeno, A., Melville, D.B., Topczewski, J., Solnica-Krezel, L., and Knapik, E.W. (2010) Sec24D-dependent transport of extracellular matrix proteins is required for zebrafish skeletal morphogenesis. PLoS One. 5(4):e10367
- Driever, W., Solnica-Krezel, L., Schier, A.F., Neuhauss, S.C., Malicki, J., Stemple, D.L., Stainier, D.Y., Zwartkruis, F., Abdelilah, S., Rangini, Z., Belak, J., and Boggs, C. (1996) A genetic screen for mutations affecting embryogenesis in zebrafish. Development (Cambridge, England). 123:37-46
- Neuhauss, S.C., Solnica-Krezel, L., Schier, A.F., Zwartkruis, F., Stemple, D.L., Malicki, J., Abdelilah, S., Stainier, D.Y., and Driever, W. (1996) Mutations affecting craniofacial development in zebrafish. Development (Cambridge, England). 123:357-367
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