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Ask your administrator if you think this is wrong. ======= LMNA ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: LMNA * **<color #00a2e8>Official Name</color>**: lamin A/C * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4000|4000]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P02545|P02545]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=LMNA&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20LMNA|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/150330|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]. * **<color #00a2e8>UniProt Summary</color>**: N/A <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |IF tail| |Filament| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |establishment or maintenance of microtubule cytoskeleton polarity| |positive regulation of histone H3-K9 trimethylation| |lamin filament| |negative regulation of cardiac muscle adaptation| |negative regulation of cardiac muscle hypertrophy in response to stress| |negative regulation of mesenchymal cell proliferation| |regulation of cardiac muscle adaptation| |regulation of cardiac muscle hypertrophy in response to stress| |mitotic nuclear envelope reassembly| |ventricular cardiac muscle cell development| |regulation of histone H3-K9 trimethylation| |negative regulation of muscle adaptation| |positive regulation of histone H3-K9 methylation| |positive regulation of cell aging| |ventricular cardiac muscle cell differentiation| |establishment or maintenance of cytoskeleton polarity| |nuclear envelope reassembly| |negative regulation of release of cytochrome c from mitochondria| |regulation of histone H3-K9 methylation| |negative regulation of cardiac muscle hypertrophy| |negative regulation of muscle hypertrophy| |regulation of mesenchymal cell proliferation| |positive regulation of histone methylation| |regulation of release of cytochrome c from mitochondria| |regulation of cell aging| |negative regulation of mitochondrion organization| |nuclear envelope organization| |IRE1-mediated unfolded protein response| |regulation of cardiac muscle hypertrophy| |regulation of muscle hypertrophy| |cardiac muscle cell development| |cardiac cell development| |regulation of histone methylation| |regulation of muscle adaptation| |cardiac muscle cell differentiation| |positive regulation of histone modification| |protein import into nucleus| |negative regulation of extrinsic apoptotic signaling pathway| |positive regulation of chromatin organization| |endoplasmic reticulum unfolded protein response| |import into nucleus| |cardiocyte differentiation| |regulation of protein localization to nucleus| |cellular response to unfolded protein| |nucleus organization| |striated muscle cell development| |protein import| |regulation of histone modification| |muscle cell development| |cellular response to topologically incorrect protein| |regulation of extrinsic apoptotic signaling pathway| |cardiac muscle tissue development| |protein localization to nucleus| |response to unfolded protein| |positive regulation of chromosome organization| |nuclear envelope| |regulation of mitochondrion organization| |response to topologically incorrect protein| |cellular response to hypoxia| |regulation of chromatin organization| |establishment or maintenance of cell polarity| |cellular response to decreased oxygen levels| |striated muscle cell differentiation| |cellular response to oxygen levels| |negative regulation of apoptotic signaling pathway| |regulation of muscle system process| |nuclear membrane| |muscle cell differentiation| |response to endoplasmic reticulum stress| |nucleocytoplasmic transport| |nuclear transport| |striated muscle tissue development| |regulation of protein stability| |muscle tissue development| |response to hypoxia| |regulation of chromosome organization| |response to decreased oxygen levels| |negative regulation of organelle organization| |response to oxygen levels| |regulation of apoptotic signaling pathway| |nuclear speck| |endomembrane system organization| |establishment of protein localization to organelle| |muscle structure development| |microtubule cytoskeleton organization| |heart development| |regulation of cellular protein localization| |regulation of system process| |mitotic cell cycle process| |positive regulation of organelle organization| |microtubule-based process| |negative regulation of cell population proliferation| |mitotic cell cycle| |negative regulation of cellular component organization| |protein localization to organelle| |regulation of cell migration| |membrane organization| |circulatory system development| |negative regulation of apoptotic process| |negative regulation of programmed cell death| |regulation of cell motility| |regulation of cellular localization| |regulation of locomotion| |negative regulation of cell death| |intracellular protein transport| |regulation of cellular component movement| |cell cycle process| |regulation of protein localization| |cytoskeleton organization| |response to abiotic stimulus| |negative regulation of multicellular organismal process| |positive regulation of cellular component organization| |positive regulation of protein modification process| |negative regulation of signal transduction| |regulation of organelle organization| |cell cycle| |negative regulation of cell communication| |negative regulation of signaling| |positive regulation of developmental process| |regulation of response to stress| |protein transport| |intracellular transport| |peptide transport| |regulation of apoptotic process| |regulation of programmed cell death| |amide transport| |cellular protein localization| |cellular macromolecule localization| |positive regulation of cellular protein metabolic process| |establishment of protein localization| |regulation of cell population proliferation| |negative regulation of response to stimulus| |cell development| |regulation of cell death| |cellular response to stress| |positive regulation of protein metabolic process| |tissue development| |establishment of localization in cell| |regulation of protein modification process| |nitrogen compound transport| |positive regulation of gene expression| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp18|Doxycycline 10μM R00 exp18]]|-1.79| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 5/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|1/26| |breast|0/33| |central nervous system|1/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|1/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|1/24| |soft tissue|0/9| |thyroid|1/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 4859 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.37 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='LMNA Expression in NALM6 Cells: 1.37'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1