Gene
sec23b
- ID
- ZDB-GENE-030131-5479
- Name
- SEC23 homolog B, coat complex II component
- Symbol
- sec23b Nomenclature History
- Previous Names
-
- fl08h02
- wu:fd19h01
- wu:fl08h02
- zgc:55595
- zgc:86871
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable GTPase activator activity. Acts upstream of or within cartilage development; embryonic neurocranium morphogenesis; and erythrocyte development. 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. Human ortholog(s) of this gene implicated in Cowden syndrome 7 and congenital dyserythropoietic anemia type II. Orthologous to human SEC23B (SEC23 homolog B, COPII coat complex component).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6903779 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| mi4004 | Allele with one deletion | Exon 5 | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-sec23b | Khoriaty et al., 2018 | |
| MO1-sec23b | N/A | (3) |
| MO2-sec23b | N/A | Schwarz et al., 2009 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital dyserythropoietic anemia type II | Alliance | Dyserythropoietic anemia, congenital, type II | 224100 |
| Cowden syndrome 7 | Alliance | ?Cowden syndrome 7 | 616858 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | ADF-H/Gelsolin-like domain superfamily | Gelsolin-like domain | Gelsolin-like domain superfamily | Protein transport protein Sec23 | Sec23, C-terminal | Sec23/Sec24 beta-sandwich | Sec23/Sec24, helical domain | Sec23/Sec24 helical domain superfamily | Sec23/Sec24, trunk domain | von Willebrand factor A-like domain superfamily | Zinc finger, Sec23/Sec24-type | Zinc finger, Sec23/Sec24-type superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q7ZVV7 | InterPro | 766 | ||||||||||||
| UniProtKB:A0A8M6Z6P7 | InterPro | 772 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sec23b-201
(1)
|
Ensembl | 3,698 nt | ||
| mRNA |
sec23b-204
(1)
|
Ensembl | 3,105 nt | ||
| mRNA |
sec23b-206
(1)
|
Ensembl | 3,133 nt | ||
| ncRNA |
sec23b-002
(1)
|
Ensembl | 365 nt | ||
| ncRNA |
sec23b-003
(1)
|
Ensembl | 464 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-85N16 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-277E10 | ZFIN Curated Data | |
| Contains | SNP | rs3729106 | ZFIN Curated Data | |
| Contains | SNP | rs3729107 | ZFIN Curated Data | |
| Contains | SNP | rs3729108 | ZFIN Curated Data | |
| Contains | SNP | rs3729109 | ZFIN Curated Data | |
| Contains | SNP | rs3729110 | ZFIN Curated Data | |
| Contains | SNP | rs3729111 | ZFIN Curated Data | |
| Contains | SNP | rs3729112 | ZFIN Curated Data | |
| Contains | SNP | rs3729113 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_199777 (1) | 3096 nt | ||
| Genomic | GenBank:AL929341 (1) | 166228 nt | ||
| Polypeptide | UniProtKB:A0A8M6Z6P7 (1) | 772 aa |
- Lu, J.K., Tsai, T.C., Lee, H., Hsia, K., Lin, C.H., Lu, J.H. (2019) Pectoral Fin Anomalies in tbx5a Knockdown Zebrafish Embryos Related to the Cascade Effect of N-Cadherin and Extracellular Matrix Formation. Journal of developmental biology. 7(3)
- Khoriaty, R., Hesketh, G.G., Bernard, A., Weyand, A.C., Mellacheruvu, D., Zhu, G., Hoenerhoff, M.J., McGee, B., Everett, L., Adams, E.J., Zhang, B., Saunders, T.L., Nesvizhskii, A.I., Klionsky, D.J., Shavit, J.A., Gingras, A.C., Ginsburg, D. (2018) Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo. Proceedings of the National Academy of Sciences of the United States of America. 115(33):E7748-E7757
- 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
- Niu, X., Hong, J., Zheng, X., Melville, D.B., Knapik, E.W., Meng, A., Peng, J. (2014) The Nuclear Pore Complex Function of Sec13 Protein Is Required for Cell Survival during Retinal Development. The Journal of biological chemistry. 289:11971-85
- 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
- Mishima, Y., Abreu-Goodger, C., Staton, A.A., Stahlhut, C., Shou, C., Cheng, C., Gerstein, M., Enright, A.J., and Giraldez, A.J. (2009) Zebrafish miR-1 and miR-133 shape muscle gene expression and regulate sarcomeric actin organization. Genes & Development. 23(5):619-632
- Schwarz, K., Iolascon, A., Verissimo, F., Trede, N.S., Horsley, W., Chen, W., Paw, B.H., Hopfner, K.P., Holzmann, K., Russo, R., Esposito, M.R., Spano, D., De Falco, L., Heinrich, K., Joggerst, B., Rojewski, M.T., Perrotta, S., Denecke, J., Pannicke, U., Delaunay, J., Pepperkok, R., and Heimpel, H. (2009) Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nature Genetics. 41(8):936-940
- Lang, M.R., Lapierre, L.A., Frotscher, M., Goldenring, J.R., and Knapik, E.W. (2006) Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation. Nature Genetics. 38(10):1198-1203
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
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