Gene
rad21a
- ID
- ZDB-GENE-030131-994
- Name
- RAD21 cohesin complex component a
- Symbol
- rad21a Nomenclature History
- Previous Names
-
- rad21
- wu:fb55d02
- wu:fb93f04
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Enables sequence-specific DNA binding activity. Acts upstream of or within several processes, including chordate embryonic development; enteric nervous system development; and heart development. Predicted to be located in several cellular components, including chromosome, centromeric region; nuclear matrix; and spindle pole. Predicted to be part of cohesin complex. Is expressed in several structures, including brain; digestive system; head; optic cup; and ventricular zone. Used to study Cornelia de Lange syndrome; brain cancer; and congenital heart disease. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 4; endometrial cancer; hepatocellular carcinoma; and lung non-small cell carcinoma. Orthologous to human RAD21 (RAD21 cohesin complex component).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55325 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 34 figures from 11 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-rad21a | Avagyan et al., 2021 | |
| CRISPR2-rad21a | Shin et al., 2021 | |
| MO1-rad21a | N/A | Horsfield et al., 2007 |
| MO2-rad21a | N/A | (8) |
| MO3-rad21a | N/A | Horsfield et al., 2007 |
| MO4-rad21a | N/A | Bonora et al., 2015 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Cornelia de Lange syndrome 4 | Alliance | Cornelia de Lange syndrome 4 | 614701 |
| ?Mungan syndrome | 611376 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR006909 | Rad21/Rec8-like protein, C-terminal, eukaryotic |
| Domain | IPR006910 | Rad21/Rec8-like protein, N-terminal |
| Domain | IPR049589 | NXP-1, middle HEAT-repeat binding domain |
| Family | IPR039781 | Rad21/Rec8-like protein |
| Homologous_superfamily | IPR023093 | ScpA-like, C-terminal |
| Homologous_superfamily | IPR036390 | Winged helix DNA-binding domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | NXP-1, middle HEAT-repeat binding domain | Rad21/Rec8-like protein | Rad21/Rec8-like protein, C-terminal, eukaryotic | Rad21/Rec8-like protein, N-terminal | ScpA-like, C-terminal | Winged helix DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6TEL1 | InterPro | 643 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
rad21a-201
(1)
|
Ensembl | 2,622 nt | ||
| mRNA |
rad21a-203
(1)
|
Ensembl | 1,939 nt | ||
| ncRNA |
ottdart00000061991
(1)
|
Ensembl | 709 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-179G5 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-210P14 | ZFIN Curated Data | |
| Encodes | EST | fb55d02 | ||
| Encodes | EST | fb93f04 | ||
| Encodes | cDNA | MGC:55325 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191732 | ZFIN Curated Data | |
| Has Artifact | EST | fc73h09 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_199595 (1) | 2615 nt | ||
| Genomic | GenBank:BX005205 | 164219 nt | ||
| Polypeptide | UniProtKB:Q6TEL1 (1) | 643 aa |
- Labudina, A.A., Meier, M., Gimenez, G., Tatarakis, D., Ketharnathan, S., Mackie, B., Schilling, T.F., Antony, J., Horsfield, J.A. (2024) Cohesin composition and dosage independently affect early development in zebrafish. Development (Cambridge, England). 151(15):
- Avagyan, S., Henninger, J.E., Mannherz, W.P., Mistry, M., Yoon, J., Yang, S., Weber, M.C., Moore, J.L., Zon, L.I. (2021) Resistance to inflammation underlies enhanced fitness in clonal hematopoiesis. Science (New York, N.Y.). 374:768-772
- Shin, U., Nakhro, K., Oh, C.K., Carrington, B., Song, H., Varshney, G.K., Kim, Y., Song, H., Jeon, S., Robbins, G., Kim, S., Yoon, S., Choi, Y.J., Kim, Y.J., Burgess, S., Kang, S., Sood, R., Lee, Y., Myung, K. (2021) Large-scale generation and phenotypic characterization of zebrafish CRISPR mutants of DNA repair genes. DNA repair. 107:103173
- Chin, C.V., Antony, J., Ketharnathan, S., Labudina, A., Gimenez, G., Parsons, K.M., He, J., George, A.J., Pallota, M.M., Musio, A., Braithwaite, A.W., Guilford, P., Hannan, R.D., Horsfield, J.A. (2020) Cohesin mutations are synthetic lethal with stimulation of WNT signaling. eLIFE. 9:
- Idilli, A.I., Pazzi, C., Dal Pozzolo, F., Roccuzzo, M., Mione, M.C. (2020) Rad21 Haploinsufficiency Prevents ALT-Associated Phenotypes in Zebrafish Brain Tumors. Genes. 11(12):
- Mazzola, M., Pezzotta, A., Fazio, G., Rigamonti, A., Bresciani, E., Gaudenzi, G., Pelleri, M.C., Saitta, C., Ferrari, L., Parma, M., Fumagalli, M., Biondi, A., Cazzaniga, G., Marozzi, A., Pistocchi, A. (2020) Dysregulation of NIPBL leads to impaired RUNX1 expression and haematopoietic defects. Journal of Cellular and Molecular Medicine. 24(11):6272-6282
- Mazzola, M., Deflorian, G., Pezzotta, A., Ferrari, L., Fazio, G., Bresciani, E., Saitta, C., Ferrari, L., Fumagalli, M., Parma, M., Marasca, F., Bodega, B., Riva, P., Cotelli, F., Biondi, A., Marozzi, A., Cazzaniga, G., Pistocchi, A. (2019) NIPBL: a new player in myeloid cells differentiation. Haematologica. 104(7):1332-1341
- Meier, M., Grant, J., Dowdle, A., Thomas, A., Gerton, J., Collas, P., O'Sullivan, J.M., Horsfield, J.A. (2017) Cohesin facilitates zygotic genome activation in zebrafish. Development (Cambridge, England). 145(1)
- Bonora, E., Bianco, F., Cordeddu, L., Bamshad, M., Francescatto, L., Dowless, D., Stanghellini, V., Cogliandro, R.F., Lindberg, G., Mungan, Z., Cefle, K., Ozcelik, T., Palanduz, S., Ozturk, S., Gedikbasi, A., Gori, A., Pippucci, T., Graziano, C., Volta, U., Caio, G., Barbara, G., D'Amato, M., Seri, M., Katsanis, N., Romeo, G., De Giorgio, R. (2015) Mutations in RAD21 Disrupt Regulation of APOB in Patients with Chronic Intestinal Pseudo-obstruction. Gastroenterology. 148(4):771-782.e11
- 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
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