Gene
lmna
- ID
- ZDB-GENE-020424-3
- Name
- lamin A
- Symbol
- lmna Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to be a structural constituent of cytoskeleton. Acts upstream of or within several processes, including heart contraction; regulation of cellular senescence; and skeletal muscle tissue development. Predicted to be located in intermediate filament and nucleus. Predicted to be active in nuclear lamina. Is expressed in several structures, including fin; head; mesoderm; musculature system; and pleuroperitoneal region. Used to study muscle tissue disease. Human ortholog(s) of this gene implicated in several diseases, including Charcot-Marie-Tooth disease type 2B1; intrinsic cardiomyopathy (multiple); lipodystrophy (multiple); muscular dystrophy (multiple); and type 2 diabetes mellitus (multiple). Orthologous to human LMNA (lamin A/C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb948 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- 15 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| bw25 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| hsi9 | Allele with multiple variants | Unknown | Unknown | CRISPR | |
| la027723Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| ot300 | Allele with one deletion | Exon 2 | Premature Stop | CRISPR | |
| sa10537 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13189 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22872 | Allele with one point mutation | Unknown | Splice Site | ENU |
1 - 7 of 7
Show
1 - 10 of 13
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant Emery-Dreifuss muscular dystrophy 2 | Alliance | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 181350 |
| autosomal recessive Emery-Dreifuss muscular dystrophy 3 | Alliance | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 616516 |
| Charcot-Marie-Tooth disease type 2B1 | Alliance | Charcot-Marie-Tooth disease, type 2B1 | 605588 |
| congenital muscular dystrophy due to LMNA mutation | Alliance | Muscular dystrophy, congenital | 613205 |
| dilated cardiomyopathy 1A | Alliance | Cardiomyopathy, dilated, 1A | 115200 |
1 - 5 of 11 Show all
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| muscle tissue disease | lmnaot300/ot300 | standard conditions | Nicolas et al., 2021 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Intermediate filament protein, conserved site | Intermediate filament, rod domain | Lamin tail domain | Lamin tail domain superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:Q90XD7 | InterPro | 659 | ||||
| UniProtKB:B3DKC5 | InterPro | 659 |
1 - 2 of 2
Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(-1.67lmna:EGFP) |
|
| 2 | Verma et al., 2015 | |
| Tg1(CMV:EGFP-lmna) |
|
| 1 | (3) | |
| Tg(-2.99lmna:EGFP) |
|
| 2 | (2) | |
| Tg2(CMV:EGFP-lmna) |
|
| 1 | (3) | |
| Tg3(CMV:EGFP-lmna) |
|
| 1 | (3) | |
| Tg(5xQUAS:ZsGreen-2A-lmna,cryaa:EGFP) |
| 1 | Hong et al., 2021 | ||
| Tg(hsp70l:lmna-mKate2) |
|
| 1 | Amini et al., 2022 | |
| Tg(myl7:lmna,myl7:GFP) |
|
| 1 | Zhang et al., 2021 | |
| Tg(myl7:lmna_R332W,myl7:GFP) |
|
| 1 | Zhang et al., 2021 | |
| Tg(tnnt2a:EGFP-lmna) |
|
| 1 | Verma et al., 2017 |
1 - 10 of 12
Show
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-181C1 | ZFIN Curated Data | |
| Encodes | EST | cb948 | Thisse et al., 2001 | |
| Encodes | EST | fk66d12 | ZFIN Curated Data | |
| Encodes | EST | wz10 | ||
| Encodes | cDNA | MGC:195196 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:195205 | ZFIN Curated Data |
1 - 6 of 6
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_152971 (1) | 2078 nt | ||
| Genomic | GenBank:CR848742 (2) | 177769 nt | ||
| Polypeptide | UniProtKB:B3DKC5 (1) | 659 aa |
- Xu, S., Hong, J., Dongye, M., Lin, J., Xue, R., Huang, Z., Xu, J., Zhang, Y., Leung, A.Y., Shen, J., Zhang, W., Liu, W. (2025) The synergistic effect of c-Myb hyperactivation and Pu.1 deficiency induces Pelger-Huët anomaly and promotes sAML. Proceedings of the National Academy of Sciences of the United States of America. 122:e2416121122e2416121122
- Pan, S.W., Wang, H.D., Hsiao, H.Y., Hsu, P.J., Tseng, Y.C., Liang, W.C., Jong, Y.J., Yuh, C.H. (2024) Creatine and L-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish. Scientific Reports. 14:1282612826
- Zhao, S., Mo, G., Wang, Q., Xu, J., Yu, S., Huang, Z., Liu, W., Zhang, W. (2024) Role of RB1 in neurodegenerative diseases: inhibition of post-mitotic neuronal apoptosis via Kmt5b. Cell death discovery. 10:182182
- Amini, R., Bhatnagar, A., Schlüßler, R., Möllmert, S., Guck, J., Norden, C. (2022) Amoeboid-like migration ensures correct horizontal cell layer formation in the developing vertebrate retina. eLIFE. 11:
- Elfatih, A., Da'as, S.I., Abdelrahman, D., Mbarek, H., Mohammed, I., Hasan, W., Fakhro, K.A., Estivill, X., Mifsud, B., Qatar Genome Program Research Consortium (2022) Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP. Human molecular genetics. 31(16):2796-2809
- Fang, C., Wang, P., Yu, D., Zhang, X., Gou, D., Liang, L., Bai, X., Xie, W., Li, H., Pu, J., Yao, Y., Wang, B., Ren, X., Ke, T., Tu, X., Xu, C., Wang, Q.K. (2022) Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and Cardiac Rhythm Maintenance. Circulation. Genomic and precision medicine. 15(5):e003603
- Ho, M., Thompson, B., Fisk, J.N., Nebert, D.W., Bruford, E.A., Vasiliou, V., Bunick, C.G. (2022) Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders. Human genomics. 16:1
- Nicolas, H.A., Hua, K., Quigley, H., Ivare, J., Tesson, F., Akimenko, M.A. (2022) A CRISPR/Cas9 zebrafish lamin A/C mutant model of muscular laminopathy. Developmental Dynamics : an official publication of the American Association of Anatomists. 251(4):645-661
- Hong, J., Lee, J.G., Sohn, K.C., Lee, K., Lee, S., Lee, J., Hong, J., Choi, D., Hong, Y., Jin, H.S., Choi, D.K., Lee, S.U., Kee, Y., Jung, J., Bae, Y.K., Hwang, R.H., Hur, G.M., Lee, J.S., Ro, H. (2021) IQ-Switch is a QF-based innocuous, silencing-free, and inducible gene switch system in zebrafish. Communications biology. 4:1405
- Takashima, S., Takemoto, S., Toyoshi, K., Ohba, A., Shimozawa, N. (2021) Zebrafish model of human Zellweger syndrome reveals organ-specific accumulation of distinct fatty acid species and widespread gene expression changes. Molecular genetics and metabolism. 133(3):307-323
1 - 10 of 37
Show