LMNA
lamin A/C | HGPS, MADA, CMD1A, LGMD1B, LMN1, LMNL1, PRO1

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]

Member of: DE-4 DE-4.2
Biological processes 61 terms
DNA double-strand break attachment to nuclear envelope (GO:1990683)cellular response to hypoxia (GO:0071456)cellular senescence (GO:0090398)cytosol (GO:0005829)double-strand break repair via nonhomologous end joining (GO:0006303)establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)heterochromatin formation (GO:0031507)identical protein binding (GO:0042802)intermediate filament (GO:0005882)intracellular protein localization (GO:0008104)lamin filament (GO:0005638)lamin filament (GO:0005638)muscle organ development (GO:0007517)negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)negative regulation of cell population proliferation (GO:0008285)nuclear envelope (GO:0005635)nuclear envelope (GO:0005635)nuclear envelope (GO:0005635)nuclear envelope (GO:0005635)nuclear envelope organization (GO:0006998)nuclear envelope organization (GO:0006998)nuclear envelope organization (GO:0006998)nuclear envelope organization (GO:0006998)nuclear lamina (GO:0005652)nuclear lamina (GO:0005652)nuclear lamina (GO:0005652)nuclear lamina (GO:0005652)nuclear lamina (GO:0005652)nuclear lumen (GO:0031981)nuclear matrix (GO:0016363)nuclear matrix (GO:0016363)nuclear membrane (GO:0031965)nuclear membrane (GO:0031965)nuclear membrane (GO:0031965)nuclear migration (GO:0007097)nuclear pore localization (GO:0051664)nuclear speck (GO:0016607)nuclear speck (GO:0016607)nucleoplasm (GO:0005654)nucleoplasm (GO:0005654)nucleoplasm (GO:0005654)nucleus (GO:0005634)nucleus (GO:0005634)nucleus (GO:0005634)perinuclear region of cytoplasm (GO:0048471)protein binding (GO:0005515)protein localization to nuclear envelope (GO:0090435)protein localization to nucleus (GO:0034504)protein localization to nucleus (GO:0034504)regulation of cell migration (GO:0030334)regulation of cell migration (GO:0030334)regulation of telomere maintenance (GO:0032204)site of double-strand break (GO:0035861)structural constituent of cytoskeleton (GO:0005200)structural constituent of cytoskeleton (GO:0005200)structural constituent of cytoskeleton (GO:0005200)structural constituent of nuclear lamina (GO:0160123)structural constituent of nuclear lamina (GO:0160123)structural molecule activity (GO:0005198)
Expression (TPM)
LMNA — as a Regulated Gene

TFs regulating LMNA 0 TFs

Transcription factors with Perturb-seq knockdown data for LMNA. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = LMNA upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to LMNA

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of LMNA, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr1:155,806,537–155,807,073 307.9 kb Distal (>10kb) Multiome 15
chr1:155,856,932–155,857,529 257.5 kb Distal (>10kb) Multiome 639
chr1:155,859,095–155,860,745 255.3 kb Distal (>10kb) Multiome 632
chr1:155,910,686–155,911,579 203.3 kb Distal (>10kb) Multiome 691
chr1:155,934,107–155,934,787 180.2 kb Distal (>10kb) Multiome 872
chr1:155,976,727–155,977,187 137.8 kb Distal (>10kb) Multiome 316
chr1:155,977,296–155,979,264 136.0 kb Distal (>10kb) Multiome 698
chr1:156,020,469–156,021,128 93.8 kb Distal (>10kb) Multiome 558
chr1:156,052,923–156,055,358 59.8 kb Distal (>10kb) Multiome 1053
chr1:156,060,806–156,061,738 53.5 kb Distal (>10kb) Multiome 318
chr1:156,063,507–156,064,184 50.9 kb Distal (>10kb) Multiome 199
chr1:156,073,800–156,074,094 8.8 kb Proximal (<10kb) 76
chr1:156,076,488–156,077,355 37.7 kb Distal (>10kb) Multiome 246
chr1:156,081,942–156,083,586 32.1 kb Distal (>10kb) Multiome 670
chr1:156,090,597–156,091,028 7.7 kb Proximal (<10kb) 334
chr1:156,105,123–156,105,479 9.2 kb Proximal (<10kb) 177
chr1:156,105,879–156,107,316 8.1 kb Proximal (<10kb) Multiome 663
chr1:156,114,184–156,115,669 22 bp At TSS Multiome 824
chr1:156,123,520–156,124,091 9.1 kb Proximal (<10kb) Multiome 679
chr1:156,129,945–156,130,610 15.7 kb Distal (>10kb) Multiome 733
chr1:156,146,058–156,146,760 31.6 kb Distal (>10kb) Multiome 429
chr1:156,149,593–156,150,242 35.3 kb Distal (>10kb) Multiome 194
chr1:156,160,602–156,161,218 46.4 kb Distal (>10kb) Multiome 218
chr1:156,181,487–156,182,119 67.1 kb Distal (>10kb) Multiome 145
chr1:156,184,002–156,185,155 69.7 kb Distal (>10kb) Multiome 216
chr1:156,193,531–156,194,375 79.2 kb Distal (>10kb) Multiome 751
chr1:156,212,611–156,213,686 98.4 kb Distal (>10kb) Multiome 893
chr1:156,245,413–156,246,269 131.1 kb Distal (>10kb) Multiome 380
chr1:156,282,165–156,283,323 168.1 kb Distal (>10kb) Multiome 973
chr1:156,291,233–156,291,857 176.8 kb Distal (>10kb) Multiome 518
chr1:156,337,825–156,339,056 223.8 kb Distal (>10kb) Multiome 836
chr1:156,356,873–156,357,393 242.4 kb Distal (>10kb) Multiome 506
chr1:156,368,893–156,369,552 254.5 kb Distal (>10kb) Multiome 529

Genome Browser

Genomic view of the LMNA locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr1:155,796,537 – 156,379,552
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq