Official symbol | LMNA |
Gene id | 4000 |
Organism | Homo sapiens |
Official full symbol | lamin A/C |
Gene type | protein-coding |
Also known as | CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, MADA, PRO1 |
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. |
Genomic regions | Chromosome 1 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
LMNA-205 | ENST00000368300.9 | 3178 | 664aa | Protein coding | CCDS1129 | P02545-1 | NM_170707.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
LMNA-201 | ENST00000361308.9 | 2465 | 664aa | Protein coding | CCDS1129 | A0A384MQX1 Q3BDU5 | - | TSL:5, GENCODE basic, APPRIS P1, |
LMNA-206 | ENST00000368301.6 | 2461 | 572aa | Protein coding | CCDS1131 | P02545-2 | - | TSL:2, GENCODE basic, |
LMNA-232 | ENST00000675939.1 | 2401 | 664aa | Protein coding | CCDS1129 | A0A384MQX1 | - | GENCODE basic, APPRIS P1, |
LMNA-204 | ENST00000368299.7 | 2253 | 614aa | Protein coding | CCDS72941 | P02545-6 | - | TSL:1, GENCODE basic, |
LMNA-238 | ENST00000677389.1 | 2029 | 572aa | Protein coding | CCDS1131 | - | NM_005572.4 | GENCODE basic, MANE Plus Clinical v0.92, |
LMNA-207 | ENST00000448611.6 | 1943 | 574aa | Protein coding | CCDS58038 | P02545-4 | - | TSL:2, GENCODE basic, |
LMNA-202 | ENST00000368297.5 | 1679 | 491aa | Protein coding | CCDS72942 | Q5TCI8 | - | TSL:2, GENCODE basic, |
LMNA-229 | ENST00000675667.1 | 2826 | 729aa | Protein coding | - | - | - | GENCODE basic, |
LMNA-236 | ENST00000676385.2 | 2811 | 634aa | Protein coding | - | - | - | GENCODE basic, |
LMNA-212 | ENST00000473598.6 | 2015 | 565aa | Protein coding | - | P02545-5 | - | TSL:2, GENCODE basic, |
LMNA-219 | ENST00000504687.6 | 546 | 43aa | Protein coding | - | H0YAB0 | - | CDS 3' incomplete, TSL:4, |
LMNA-231 | ENST00000675881.1 | 3218 | 342aa | Nonsense mediated decay | - | - | - | - |
LMNA-237 | ENST00000676434.1 | 3212 | 342aa | Nonsense mediated decay | - | - | - | - |
LMNA-226 | ENST00000674720.1 | 3016 | 516aa | Nonsense mediated decay | - | - | - | - |
LMNA-225 | ENST00000674600.1 | 2576 | 126aa | Nonsense mediated decay | - | - | - | - |
LMNA-234 | ENST00000676208.1 | 2528 | 342aa | Nonsense mediated decay | - | - | - | - |
LMNA-224 | ENST00000674518.1 | 2391 | 214aa | Nonsense mediated decay | - | - | - | - |
LMNA-228 | ENST00000675455.1 | 2297 | 36aa | Nonsense mediated decay | - | - | - | - |
LMNA-230 | ENST00000675874.1 | 2239 | 123aa | Nonsense mediated decay | - | - | - | - |
LMNA-221 | ENST00000515459.5 | 757 | 38aa | Nonsense mediated decay | - | D6RB20 | - | TSL:5, |
LMNA-209 | ENST00000469565.6 | 591 | No protein | Processed transcript | - | - | - | TSL:4, |
LMNA-218 | ENST00000502751.5 | 570 | No protein | Processed transcript | - | - | - | TSL:4, |
LMNA-222 | ENST00000515711.1 | 569 | No protein | Processed transcript | - | - | - | TSL:5, |
LMNA-210 | ENST00000470199.2 | 551 | No protein | Processed transcript | - | - | - | TSL:4, |
LMNA-217 | ENST00000502357.5 | 537 | No protein | Processed transcript | - | - | - | TSL:4, |
LMNA-211 | ENST00000470835.1 | 472 | No protein | Processed transcript | - | - | - | TSL:3, |
LMNA-214 | ENST00000495341.5 | 394 | No protein | Processed transcript | - | - | - | TSL:5, |
LMNA-213 | ENST00000478063.2 | 285 | No protein | Processed transcript | - | - | - | TSL:5, |
LMNA-233 | ENST00000675989.1 | 3616 | No protein | Retained intron | - | - | - | - |
LMNA-235 | ENST00000676283.1 | 3342 | No protein | Retained intron | - | - | - | - |
LMNA-215 | ENST00000496738.6 | 2987 | No protein | Retained intron | - | - | - | TSL:2, |
LMNA-227 | ENST00000675431.1 | 1514 | No protein | Retained intron | - | - | - | - |
LMNA-203 | ENST00000368298.2 | 1475 | No protein | Retained intron | - | - | - | TSL:1, |
LMNA-216 | ENST00000498722.2 | 1348 | No protein | Retained intron | - | - | - | TSL:2, |
LMNA-208 | ENST00000459904.1 | 916 | No protein | Retained intron | - | - | - | TSL:2, |
LMNA-220 | ENST00000506981.1 | 576 | No protein | Retained intron | - | - | - | TSL:2, |
LMNA-223 | ENST00000515824.1 | 393 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | LMNA |
This KO Strategy | loading |
Red Cotton™ Notes | Gene LMNA had been KO in hela cell line. |
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