LMNA
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| lamin A/C | MIM:150330 | Ensembl:ENSG00000160789 | HGNC:HGNC:6636 | PA231 | 1q22 |
Gene Categories:
DRUGGABLE GENOMEGO terms in LMNA
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | HDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005635 | nuclear envelope |
| CC | IMP | GO:0005635 | nuclear envelope |
| CC | TAS | GO:0005635 | nuclear envelope |
| CC | IEA | GO:0005638 | lamin filament |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0016607 | nuclear speck |
| CC | HDA | GO:0031965 | nuclear membrane |
| BP | IEA | GO:0006606 | protein import into nucleus |
| BP | TAS | GO:0007084 | mitotic nuclear envelope reassembly |
| BP | IMP | GO:0008285 | negative regulation of cell proliferation |
| BP | IEA | GO:0010628 | positive regulation of gene expression |
| BP | ISS | GO:0030334 | regulation of cell migration |
| BP | ISS | GO:0030951 | establishment or maintenance of microtubule cytoskeleton polarity |
| BP | ISS | GO:0034504 | protein localization to nucleus |
| BP | TAS | GO:0036498 | IRE1-mediated unfolded protein response |
| BP | IEA | GO:0055015 | ventricular cardiac muscle cell development |
| BP | IEP | GO:0071456 | cellular response to hypoxia |
| BP | IEA | GO:0072201 | negative regulation of mesenchymal cell proliferation |
| BP | IEA | GO:0090201 | negative regulation of release of cytochrome c from mitochondria |
| BP | IDA | GO:0090343 | positive regulation of cell aging |
| BP | IEA | GO:1900180 | regulation of protein localization to nucleus |
| BP | ISS | GO:1903243 | negative regulation of cardiac muscle hypertrophy in response to stress |
| BP | IEA | GO:2001237 | negative regulation of extrinsic apoptotic signaling pathway |
| MF | IEA | GO:0005198 | structural molecule activity |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: LMNA
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in LMNA
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2118 | Arrhythmogenic Right Ventricular Cardiomyopathy |
| wikipathways | WP236 | Adipogenesis |
| wikipathways | WP314 | Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation |
| wikipathways | WP3472 | XBP1(S) activates chaperone genes |
| pid | caspase_pathway | Caspase Cascade in Apoptosis |
| pharmgkb | PA2033 | Antiarrhythmic Pathway, Pharmacodynamics |
| kegg | hsa04210 | Apoptosis - Homo sapiens (human) |
| kegg | hsa05410 | Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human) |
| kegg | hsa05412 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) - Homo sapiens (human) |
| kegg | hsa05414 | Dilated cardiomyopathy (DCM) - Homo sapiens (human) |
| biocarta | caspasepathway | caspase cascade in apoptosis |
| biocarta | deathpathway | induction of apoptosis through dr3 and dr4/5 death receptors |
| biocarta | hivnefpathway | hiv-1 nef: negative effector of fas and tnf |
| biocarta | tnfr1pathway | tnfr1 signaling pathway |
| reactome | R-HSA-109581 | Apoptosis |
| reactome | R-HSA-111465 | Apoptotic cleavage of cellular proteins |
| reactome | R-HSA-1221632 | Meiotic synapsis |
| reactome | R-HSA-1474165 | Reproduction |
| reactome | R-HSA-1500620 | Meiosis |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-2555396 | Mitotic Metaphase and Anaphase |
| reactome | R-HSA-2980766 | Nuclear Envelope Breakdown |
| reactome | R-HSA-2993913 | Clearance of Nuclear Envelope Membranes from Chromatin |
| reactome | R-HSA-2995383 | Initiation of Nuclear Envelope Reformation |
| reactome | R-HSA-2995410 | Nuclear Envelope Reassembly |
| reactome | R-HSA-352238 | Breakdown of the nuclear lamina |
| reactome | R-HSA-381038 | XBP1(S) activates chaperone genes |
| reactome | R-HSA-381070 | IRE1alpha activates chaperones |
| reactome | R-HSA-381119 | Unfolded Protein Response (UPR) |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-4419969 | Depolymerisation of the Nuclear Lamina |
| reactome | R-HSA-5357801 | Programmed Cell Death |
| reactome | R-HSA-5663202 | Diseases of signal transduction |
| reactome | R-HSA-6802952 | Signaling by BRAF and RAF fusions |
| reactome | R-HSA-6802957 | Oncogenic MAPK signaling |
| reactome | R-HSA-68875 | Mitotic Prophase |
| reactome | R-HSA-68882 | Mitotic Anaphase |
| reactome | R-HSA-68886 | M Phase |
| reactome | R-HSA-69278 | Cell Cycle, Mitotic |
| reactome | R-HSA-75153 | Apoptotic execution phase |
| reactome | R-HSA-8862803 | Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models |
| reactome | R-HSA-8863678 | Neurodegenerative Diseases |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD137 | Indisulam | 2 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD427 | ABT737 | 3 |
| iGMDRD318 | PAC-1 | 1 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD74 | Idarubicin | 2 |
| iGMDRD399 | Selumetinib | 4 |
| iGMDRD100 | Zebularine | 3 |
| iGMDRD562 | Navitoclax | 3 |
| iGMDRD398 | Sepantronium | 4 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD297 | Austocystin D | 3 |
| iGMDRD154 | NSC23766 | 3 |
| iGMDRD356 | PNU-74654 | 2 |
| iGMDRD353 | PD0325901 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in LMNA
CLASSFICATION
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