Harmonizome 3.0

lamin A/C

The protein encoded by this gene is part of the nuclear lamina, 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, May 2022]

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term lmna in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for LMNA from the Pathway Commons Protein-Protein Interactions dataset.

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the LMNA gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.

From CORUM Protein Complexes

proteins in the CTCF-nucleophosmin-PARP-HIS-KPNA-LMNA-TOP complex protein complex from the CORUM Protein Complexes dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Lmna-Related from the curated CTD Gene-Disease Associations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Muscular LMNA-interacting protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Lmna-Related Cardiocutaneous Progeria Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From WikiPathways Pathways 2024

proteins participating in the Overlap between signal transduction pathways contributing to LMNA laminopathies pathway from the WikiPathways Pathways 2024 dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Congenital muscular dystrophy due to LMNA mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Congenital muscular dystrophy due to LMNA mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to LMNA mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.