Gene
smarca2
- ID
- ZDB-GENE-030131-5964
- Name
- SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
- Symbol
- smarca2 Nomenclature History
- Previous Names
-
- wu:fa56c07
- wu:fi27f11
- zgc:66238
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable DNA binding activity; chromatin binding activity; and nucleosome array spacer activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of DNA-templated transcription. Predicted to be part of SWI/SNF complex. Predicted to be active in chromatin and nucleus. Is expressed in hematopoietic multipotent progenitor cell; liver; and pronephric duct. Human ortholog(s) of this gene implicated in Nicolaides-Baraitser syndrome and blepharophimosis-impaired intellectual development syndrome. Orthologous to human SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66238 (10 images)
- IMAGE:7157675 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Laue et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la015707Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| pu101 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| pu102 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| pu103 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| pu104 | Allele with multiple variants | Unknown | Unknown | CRISPR | |
| sa2224 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa20515 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa26560 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33690 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33691 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| blepharophimosis-impaired intellectual development syndrome | Alliance | Blepharophimosis-impaired intellectual development syndrome | 619293 |
| Nicolaides-Baraitser syndrome | Alliance | Nicolaides-Baraitser syndrome | 601358 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | BRK domain | BRK domain superfamily | Bromodomain | Bromodomain, conserved site | Bromodomain-like superfamily | Glutamine-Leucine-Glutamine, QLQ | Helicase, C-terminal domain-like | Helicase/SANT-associated domain | Helicase superfamily 1/2, ATP-binding domain | P-loop containing nucleoside triphosphate hydrolase | Snf2, ATP coupling domain | SNF2-like, N-terminal domain superfamily | SNF2, N-terminal | SNF2/RAD5-like, C-terminal helicase domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q1MTE3 | InterPro | 1568 | ||||||||||||||
| UniProtKB:A0A8M3ASL9 | InterPro | 1578 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smarca2-201
(1)
|
Ensembl | 6,051 nt | ||
| mRNA |
smarca2-202
(1)
|
Ensembl | 823 nt | ||
| mRNA |
smarca2-203
(1)
|
Ensembl | 663 nt | ||
| mRNA |
smarca2-204
(1)
|
Ensembl | 4,830 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 | CH211-130P8 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-31E5 | ZFIN Curated Data | |
| Encodes | EST | fa56c07 | ||
| Encodes | EST | fi27f11 | ||
| Encodes | EST | IMAGE:7157675 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:66238 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001044775 (1) | 6061 nt | ||
| Genomic | GenBank:CR391913 (1) | 190731 nt | ||
| Polypeptide | UniProtKB:A0A8M3ASL9 (1) | 1578 aa |
- Ma, J., Gu, Y., Liu, J., Song, J., Zhou, T., Jiang, M., Wen, Y., Guo, X., Zhou, Z., Sha, J., He, J., Hu, Z., Luo, L., Liu, M. (2022) Functional screening of congenital heart disease risk loci identifies 5 genes essential for heart development in zebrafish. Cellular and molecular life sciences : CMLS. 80:1919
- Casey, M.A., Hill, J.T., Hoshijima, K., Bryan, C.D., Gribble, S.L., Brown, J.T., Chien, C.B., Yost, H.J., Kwan, K.M. (2021) Shutdown corner, a large deletion mutant isolated from a haploid mutagenesis screen in zebrafish. G3 (Bethesda). 12(3):
- Ding, Y., Wang, W., Ma, D., Liang, G., Kang, Z., Xue, Y., Zhang, Y., Wang, L., Heng, J., Zhang, Y., Liu, F. (2020) Smarca5 mediated epigenetic programming facilitates fetal HSPC development in vertebrates. Blood. 137(2):190-202
- Kim, B.H., Zhang, G. (2020) Generating Stable Knockout Zebrafish Lines by Deleting Large Chromosomal Fragments Using Multiple gRNAs. G3 (Bethesda). 10(3):1029-1037
- Zhu, Z., Liu, Y., Xu, W., Liu, T., Xie, Y., Sham, K.W.Y., Sha, O., Cheng, C.H.K. (2020) Functional Characterization and Expression Analyses Show Differential Roles of Maternal and Zygotic Dgcr8 in Early Embryonic Development. Frontiers in genetics. 11:299
- Laue, K., Rajshekar, S., Courtney, A.J., Lewis, Z.A., Goll, M.G. (2019) The maternal to zygotic transition regulates genome-wide heterochromatin establishment in the zebrafish embryo. Nature communications. 10:1551
- Du, Z., Chen, X., Li, X., He, K., Ji, S., Shi, W., Hao, A. (2016) Protein palmitoylation activate zygotic gene expression during the maternal-to-zygotic transition. Biochemical and Biophysical Research Communications. 475(2):194-201
- Hensley, M.R., Cui, Z., Chua, R.F., Simpson, S., Shammas, N.L., Yang, J.Y., Leung, Y.F., Zhang, G. (2016) Evolutionary and developmental analysis reveals KANK genes were co-opted for vertebrate vascular development. Scientific Reports. 6:27816
- Moore, F.E., Garcia, E.G., Lobbardi, R., Jain, E., Tang, Q., Moore, J.C., Cortes, M., Molodtsov, A., Kasheta, M., Luo, C.C., Garcia, A.J., Mylvaganam, R., Yoder, J.A., Blackburn, J.S., Sadreyev, R.I., Ceol, C.J., North, T.E., Langenau, D.M. (2016) Single-cell transcriptional analysis of normal, aberrant, and malignant hematopoiesis in zebrafish. The Journal of experimental medicine. 213(6):979-92
- Chiavacci, E., D'Aurizio, R., Guzzolino, E., Russo, F., Baumgart, M., Groth, M., Mariani, L., D'Onofrio, M., Arisi, I., Pellegrini, M., Cellerino, A., Cremisi, F., Pitto, L. (2015) MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome. Scientific Reports. 5:18240
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