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 |
|---|---|---|---|---|---|
Namelamin A/C OMIM IDMIM:150330 Ensembl IDEnsembl:ENSG00000160789 HGNC IDHGNC:HGNC:6636 PHARMGKB IDPA231 Map Location1q22 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in LMNA
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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