Gene
flna
- ID
- ZDB-GENE-030131-2145
- Name
- filamin A, alpha (actin binding protein 280)
- Symbol
- flna Nomenclature History
- Previous Names
-
- fb98b06
- fd09g03
- wu:fb98b06
- wu:fd09g03
- wu:fd49a06
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity. Acts upstream of or within several processes, including determination of heart left/right asymmetry; intestinal motility; and peristalsis. Predicted to be located in intracellular membraneless organelle. Is expressed in brain; gut; head; and intestine. Human ortholog(s) of this gene implicated in X-linked chronic idiopathic intestinal pseudo-obstruction; bone development disease (multiple); heart valve disease (multiple); periventricular nodular heterotopia; and terminal osseous dysplasia. Orthologous to human FLNA (filamin A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| is16Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| re33 | Allele with one delins | Exon 1 | Unknown | TALEN | |
| sa17303 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa24296 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa24297 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa24298 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa32439 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43949 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43950 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa43951 | 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 |
|---|---|---|---|
| FG syndrome | Alliance | ?FG syndrome 2 | 300321 |
| frontometaphyseal dysplasia 1 | Alliance | Frontometaphyseal dysplasia 1 | 305620 |
| Melnick-Needles syndrome | Alliance | Melnick-Needles syndrome | 309350 |
| otopalatodigital syndrome type 1 | Alliance | Otopalatodigital syndrome, type I | 311300 |
| otopalatodigital syndrome type 2 | Alliance | Otopalatodigital syndrome, type II | 304120 |
| periventricular nodular heterotopia | Alliance | Heterotopia, periventricular, 1 | 300049 |
| terminal osseous dysplasia | Alliance | Terminal osseous dysplasia | 300244 |
| X-linked cardiac valvular dysplasia | Alliance | Cardiac valvular dysplasia, X-linked | 314400 |
| X-linked chronic idiopathic intestinal pseudo-obstruction | Alliance | Congenital short bowel syndrome | 300048 |
| X-linked chronic idiopathic intestinal pseudo-obstruction | Alliance | Intestinal pseudoobstruction, neuronal | 300048 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Additional Resources | Length |
|---|---|---|
| UniProtKB:A0A8M9PT53 | InterPro | 2552 |
| UniProtKB:A0A8M3AV82 | InterPro | 2544 |
| UniProtKB:A0A8M9PWT6 | InterPro | 2523 |
| UniProtKB:A0AB32TI17 | InterPro | 2487 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009296770 (1) | 8519 nt | ||
| Genomic | GenBank:CR352234 (1) | 198117 nt | ||
| Polypeptide | UniProtKB:A0A8M9PT53 (1) | 2552 aa |
- LaCoursiere, C.M., Ullmann, J.F.P., Koh, H.Y., Turner, L., Baker, C.M., Robens, B., Shao, W., Rotenberg, A., McGraw, C.M., Poduri, A.H. (2024) Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 27:110172110172
- Zada, A., Zhao, Y., Halim, D., Windster, J., van der Linde, H.C., Glodener, J., Overkleeft, S., de Graaf, B.M., Verdijk, R.M., Brooks, A.S., Shepherd, I., Gao, Y., Burns, A.J., Hofstra, R.M.W., Alves, M.M. (2022) The long Filamin-a isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction. Human molecular genetics. 32(1):151-160
- Liang, S., Shi, X., Yu, C., Shao, X., Zhou, H., Li, X., Chang, C., Lai, K.S., Ma, J., Zhang, R. (2020) Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencing. Biochimica et biophysica acta. Molecular basis of disease. 1866(12):165906
- Wierson, W.A., Welker, J.M., Almeida, M.P., Mann, C.M., Webster, D.A., Torrie, M.E., Weiss, T.J., Kambakam, S., Vollbrecht, M.K., Lan, M., McKeighan, K.C., Levey, J., Ming, Z., Wehmeier, A., Mikelson, C.S., Haltom, J.A., Kwan, K.M., Chien, C.B., Balciunas, D., Ekker, S.C., Clark, K.J., Webber, B.R., Moriarity, B.S., Solin, S.L., Carlson, D.F., Dobbs, D.L., McGrail, M., Essner, J. (2020) Efficient targeted integration directed by short homology in zebrafish and mammalian cells. eLIFE. 9:
- Healy, T.M., Schulte, P.M. (2019) Patterns of alternative splicing in response to cold acclimation in fish. The Journal of experimental biology. 222(Pt 5):
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Burguera, D., Marquez, Y., Racioppi, C., Permanyer, J., Torres-Méndez, A., Esposito, R., Albuixech-Crespo, B., Fanlo, L., D'Agostino, Y., Gohr, A., Navas-Perez, E., Riesgo, A., Cuomo, C., Benvenuto, G., Christiaen, L.A., Martí, E., D'Aniello, S., Spagnuolo, A., Ristoratore, F., Arnone, M.I., Garcia-Fernàndez, J., Irimia, M. (2017) Evolutionary recruitment of flexible Esrp-dependent splicing programs into diverse embryonic morphogenetic processes. Nature communications. 8:1799
- 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
- Kajita, M., Sugimura, K., Ohoka, A., Burden, J., Suganuma, H., Ikegawa, M., Shimada, T., Kitamura, T., Shindoh, M., Ishikawa, S., Yamamoto, S., Saitoh, S., Yako, Y., Takahashi, R., Okajima, T., Kikuta, J., Maijima, Y., Ishii, M., Tada, M., Fujita, Y. (2014) Filamin acts as a key regulator in epithelial defence against transformed cells. Nature communications. 5:4428
- Cuello, S., Ximénez-Embún, P., Ruppen, I., Schonthaler, H.B., Ashman, K., Madrid, Y., Luque-Garcia, J.L., and Cámara, C. (2012) Analysis of protein expression in developmental toxicity induced by MeHg in zebrafish. The Analyst. 137(22):5302-5311
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