Gene: LMNA (lamin A/C)  Homo sapiens Symbol: LMNA Name: lamin A/C Description: 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] Type: protein-coding RefSeq Status: REVIEWED Also known as: 70 kDa lamin; CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; lamin; lamin a; lamin A/C-like 1; lamin-A/C; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; OTTHUMP00000015843; OTTHUMP00000015845; OTTHUMP00000015846; OTTHUMP00000015847; OTTHUMP00000015848; OTTHUMP00000217835; prelamin-A/C; PRO1; renal carcinoma antigen NY-REN-32 Orthologs: Mus musculus : Lmna (lamin A)  MGI Rattus norvegicus : Lmna (lamin A/C) Latest Assembly: Human Genome Assembly GRCh37 Position: Map Chr Position Strand Source Human Alternate Assembly CHM1_1 1 162,553,280 - 162,610,767 + NCBI Human Genome Assembly HuRef 1 127,414,589 - 127,472,062 + NCBI Human Genome Assembly GRCh37 1 156,052,369 - 156,109,880 + NCBI Human Genome Assembly Build 36 1 154,351,085 - 154,376,502 + NCBI Human Cytogenetic Map 1 q22   NCBI Human Genome Assembly 1 152,897,570 - 152,922,944   NCBI Model Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19) Annotation    (Toggle Detail/Summary View) Disease Annotations Term Qualifier Evidence With Reference Notes Source Original Reference(s) Arrhythmias, Cardiac   ISS RGD:732791 2306092   RGD   Arteriosclerosis   ISS RGD:620456 2302364 protein:increased expression:aorta RGD   Cardiomyopathy, Dilated   IAGP   1580515   RGD   Cardiomyopathy, Dilated   IEA   7240710   OMIM   Cardiomyopathy, Dilated   IAGP   2306091 DNA:mutation RGD   Cardiomyopathy, Dilated   ISS RGD:732791 2306094 associated with Muscular Dystrophy, Emery-Dreifuss;DNA:missense mutation: :p.H222P (mouse) RGD   Cardiomyopathy, Dilated   ISS RGD:732791 2306092   RGD   Cerebrovascular Disorders   IAGP   2306095 associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :1908C>T RGD   Charcot-Marie-Tooth Disease   IAGP   1358482   RGD   Charcot-Marie-Tooth disease, Type 2B1   IEA   7240710   OMIM   Diabetes Mellitus, Lipoatrophic   IAGP   1580516   RGD   Diabetes Mellitus, Type 2 No_Association IAGP   1624984 DNA:SNPs RGD   Diabetes Mellitus, Type 2   IAGP   1624985 DNA:SNPs RGD   Diabetic Nephropathies   IAGP   2306095 associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :1908C>T RGD   Heart-hand syndrome, Slovenian type   IEA   7240710   OMIM   Hutchinson Gilford progeria syndrome   IEA   7240710   OMIM   Limb-girdle muscular dystrophy, type 1B   IEA   7240710   OMIM   Lipodystrophy   IAGP   2306123 DNA:missense mutation: :p.R482Q, p.R482W (human) RGD   LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2   IEA   7240710   OMIM   Mandibuloacral dysplasia with type A lipodystrophy   IEA   7240710   OMIM   Metabolic Syndrome X   IAGP   2306121 DNA:SNP: :c.138747C>T (human) RGD   Muscular Dystrophy, Congenital, Lmna-Related   IEA   7240710   OMIM   Muscular Dystrophy, Emery-Dreifuss   IAGP   1580516   RGD   Muscular Dystrophy, Emery-Dreifuss   IEA   7240710   OMIM   Progeria   ISS   737720   RGD   Progeria   IEA   7240710   OMIM   Progeria   IAGP   1580514   RGD   Tight skin contracture syndrome, lethal   IEA   7240710   OMIM   Gene-Chemical Interaction Annotations Term Qualifier Evidence With Reference Notes Source Original Reference(s) (3S,5R)-fluvastatin decreases farnesylation EXP   6480464 fluvastatin results in decreased farnesylation of LMNA protein CTD PMID:16996129 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane multiple interactions ISO RGD:620456 6480464 2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane affects the reaction [FSHB protein affects the expression of LMNA mRNA]; more ... CTD PMID:19414516 17alpha-ethynylestradiol affects expression ISO RGD:732791 6480464 Ethinyl Estradiol affects the expression of LMNA mRNA CTD PMID:17555576 17alpha-ethynylestradiol increases expression ISO RGD:732791 6480464 Ethinyl Estradiol results in increased expression of LMNA mRNA CTD PMID:17942748 PMID:16174780 17alpha-ethynylestradiol increases expression ISO RGD:620456 6480464 Ethinyl Estradiol results in increased expression of LMNA mRNA CTD PMID:16174780 17alpha-ethynylestradiol multiple interactions ISO RGD:732791 6480464 [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of LMNA mRNA CTD PMID:17942748 17alpha-ethynylestradiol increases expression ISO RGD:732791 6480464 Ethinyl Estradiol results in increased expression of LMNA mRNA CTD PMID:16174780 PMID:17942748 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one decreases expression EXP   6480464 Metribolone results in decreased expression of LMNA protein CTD PMID:17152098 2,3,7,8-tetrachlorodibenzodioxine multiple interactions EXP   6480464 LMNA protein promotes the reaction [Tetrachlorodibenzodioxin results in increased expression of CYP1A1 protein] CTD PMID:12761348 2,3,7,8-tetrachlorodibenzodioxine affects expression ISO RGD:732791 6480464 Tetrachlorodibenzodioxin affects the expression of LMNA mRNA CTD PMID:21570461 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:732791 6480464 Tetrachlorodibenzodioxin results in increased expression of LMNA mRNA CTD PMID:16960034 more ... 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:732791 6480464 Tetrachlorodibenzodioxin results in increased expression of LMNA mRNA CTD PMID:19770486 more ... 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:732791 6480464 Tetrachlorodibenzodioxin results in increased expression of LMNA mRNA CTD PMID:17942748 more ... 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:732791 6480464 Tetrachlorodibenzodioxin results in increased expression of LMNA mRNA CTD PMID:17942748 more ... 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:732791 6480464 Tetrachlorodibenzodioxin results in increased expression of LMNA mRNA CTD PMID:19770486 more ... 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:732791 6480464 Tetrachlorodibenzodioxin results in increased expression of LMNA mRNA CTD PMID:16960034 more ... 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:620456 6480464 Tetrachlorodibenzodioxin results in increased expression of LMNA mRNA CTD PMID:16960034 2,3,7,8-tetrachlorodibenzodioxine decreases expression ISO RGD:620456 6480464 Tetrachlorodibenzodioxin results in decreased expression of LMNA protein CTD PMID:19201780 2,3,7,8-tetrachlorodibenzodioxine decreases expression ISO RGD:620456 6480464 Tetrachlorodibenzodioxin results in decreased expression of LMNA mRNA CTD PMID:11752688 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:732791 6480464 Tetrachlorodibenzodioxin results in increased expression of LMNA mRNA CTD PMID:17942748 PMID:16960034 2,3,7,8-tetrachlorodibenzodioxine multiple interactions ISO RGD:732791 6480464 [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of LMNA mRNA CTD PMID:17942748 2,4,6-trinitrotoluene affects expression ISO RGD:620456 6480464 Trinitrotoluene affects the expression of LMNA mRNA CTD PMID:21346803 2,4-dinitrotoluene affects expression ISO RGD:620456 6480464 2,4-dinitrotoluene affects the expression of LMNA mRNA CTD PMID:21346803 2,6-dinitrotoluene affects expression ISO RGD:620456 6480464 2,6-dinitrotoluene affects the expression of LMNA mRNA CTD PMID:21346803 2-methylcholine affects expression EXP   6480464 beta-methylcholine affects the expression of LMNA mRNA CTD PMID:21179406 3',5'-cyclic AMP multiple interactions ISO RGD:620456 6480464 2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane affects the reaction [Cyclic AMP affects the expression of LMNA mRNA] CTD PMID:19414516 5-fluorouracil increases cleavage EXP   6480464 Fluorouracil results in increased cleavage of LMNA protein CTD PMID:18497562 7,12-dimethyltetraphene multiple interactions ISO RGD:620456 6480464 [9,10-Dimethyl-1,2-benzanthracene co-treated with Isoflavones] results in increased expression of LMNA protein CTD PMID:22248470 acetylsalicylic acid multiple interactions EXP   6480464 Aspirin inhibits the reaction [Deoxycholic Acid results in increased cleavage of LMNA protein] CTD PMID:17644113 aflatoxin B1 increases expression ISO RGD:732791 6480464 Aflatoxin B1 results in increased expression of LMNA mRNA CTD PMID:19770486 ammonium chloride affects expression ISO RGD:620456 6480464 Ammonium Chloride affects the expression of LMNA mRNA CTD PMID:16483693 benzo[a]pyrene decreases expression EXP   6480464 Benzo(a)pyrene results in decreased expression of LMNA protein CTD PMID:20097212 benzo[a]pyrene increases expression ISO RGD:732791 6480464 Benzo(a)pyrene results in increased expression of LMNA mRNA CTD PMID:19770486 more ... benzo[a]pyrene increases expression ISO RGD:732791 6480464 Benzo(a)pyrene results in increased expression of LMNA mRNA CTD PMID:19770486 PMID:22228805 benzo[a]pyrene increases expression ISO RGD:732791 6480464 Benzo(a)pyrene results in increased expression of LMNA mRNA CTD PMID:19770486 bis(2-chloroethyl) sulfide multiple interactions EXP   6480464 FADD protein affects the reaction [Mustard Gas promotes the reaction [CASP6 protein results in increased cleavage of LMNA protein]] CTD PMID:12482751 bis(2-chloroethyl) sulfide increases phosphorylation EXP   6480464 Mustard Gas results in increased phosphorylation of LMNA protein CTD PMID:19845377 bis(2-chloroethyl) sulfide increases cleavage EXP   6480464 Mustard Gas results in increased cleavage of LMNA protein CTD PMID:12482751 cisplatin affects expression ISO RGD:732791 6480464 Cisplatin affects the expression of LMNA mRNA CTD PMID:21151649 cisplatin decreases expression EXP   6480464 Cisplatin results in decreased expression of LMNA protein CTD PMID:20540955 cisplatin decreases expression ISO RGD:620456 6480464 Cisplatin results in decreased expression of LMNA protein CTD PMID:22023808 clofibrate multiple interactions ISO RGD:732791 6480464 [Clofibrate co-treated with Acetaminophen] affects the expression of LMNA mRNA; more ... CTD PMID:17585979 clofibrate decreases expression ISO RGD:732791 6480464 Clofibrate results in decreased expression of LMNA mRNA CTD PMID:17585979 cobalt dichloride increases expression EXP   6480464 cobaltous chloride results in increased expression of LMNA mRNA CTD PMID:19376846 cyclosporin A increases expression EXP   6480464 Cyclosporine results in increased expression of LMNA mRNA CTD PMID:21163907 deoxycholic acid increases cleavage EXP   6480464 Deoxycholic Acid results in increased cleavage of LMNA protein CTD PMID:17644113 deoxycholic acid multiple interactions EXP   6480464 Aspirin inhibits the reaction [Deoxycholic Acid results in increased cleavage of LMNA protein] CTD PMID:17644113 dibutyl phthalate increases expression ISO RGD:620456 6480464 Dibutyl Phthalate results in increased expression of LMNA mRNA CTD PMID:21266533 dibutyl phthalate increases expression ISO RGD:732791 6480464 Dibutyl Phthalate results in increased expression of LMNA mRNA CTD PMID:21266533 doxorubicin increases cleavage EXP   6480464 Doxorubicin results in increased cleavage of LMNA protein CTD PMID:18840609 elemental selenium increases expression EXP   6480464 Selenium results in increased expression of LMNA mRNA CTD PMID:19244175 fluoxetine decreases expression ISO RGD:620456 6480464 Fluoxetine results in decreased expression of LMNA mRNA CTD PMID:21852994 flutamide increases expression ISO RGD:620456 6480464 Flutamide results in increased expression of LMNA protein CTD PMID:17311803 fumonisin B1 increases expression ISO RGD:732791 6480464 fumonisin B1 results in increased expression of LMNA mRNA CTD PMID:16221962 genistein multiple interactions EXP   6480464 ESR1 promotes the reaction [Genistein results in decreased expression of LMNA protein]; more ... CTD PMID:20884965 genistein decreases expression EXP   6480464 Genistein results in decreased expression of LMNA protein CTD PMID:20884965 genistein increases expression EXP   6480464 Genistein results in increased expression of LMNA protein CTD PMID:20884965 hyaluronic acid multiple interactions ISO RGD:620456 6480464 Hyaluronic Acid analog inhibits the reaction [Hydrogen Peroxide results in decreased expression of LMNA protein] CTD PMID:23178681 hyaluronic acid increases expression ISO RGD:620456 6480464 Hyaluronic Acid analog results in increased expression of LMNA protein CTD PMID:23178681 hydrogen peroxide decreases secretion ISO RGD:732791 6480464 Hydrogen Peroxide results in decreased secretion of LMNA mRNA CTD PMID:21179422 hydrogen peroxide decreases expression ISO RGD:620456 6480464 Hydrogen Peroxide results in decreased expression of LMNA protein CTD PMID:23178681 hydrogen peroxide multiple interactions ISO RGD:620456 6480464 Hyaluronic Acid analog inhibits the reaction [Hydrogen Peroxide results in decreased expression of LMNA protein] CTD PMID:23178681 hydroquinone affects expression EXP   6480464 hydroquinone affects the expression of LMNA protein CTD PMID:17181942 lithium atom increases expression ISO RGD:620456 6480464 Lithium results in increased expression of LMNA protein CTD PMID:18296634 mercury atom decreases expression EXP   6480464 Mercury results in decreased expression of LMNA mRNA CTD PMID:16823088 mercury(0) decreases expression EXP   6480464 Mercury results in decreased expression of LMNA mRNA CTD PMID:16823088 mitomycin C affects response to substance EXP   6480464 LMNA protein affects the susceptibility to Mitomycin CTD PMID:16217747 N-nitrosodiethylamine multiple interactions ISO RGD:620456 6480464 [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of LMNA mRNA CTD PMID:20360939 naphthalene multiple interactions ISO RGD:732791 6480464 [naphthalene co-treated with CFTR gene mutant form] results in decreased expression of LMNA protein CTD PMID:19438287 naphthalene decreases expression ISO RGD:732791 6480464 naphthalene results in decreased expression of LMNA protein CTD PMID:19438287 paracetamol multiple interactions ISO RGD:732791 6480464 [Clofibrate co-treated with Acetaminophen] affects the expression of LMNA mRNA; more ... CTD PMID:17585979 paracetamol affects expression ISO RGD:732791 6480464 Acetaminophen affects the expression of LMNA mRNA CTD PMID:17562736 phenobarbital multiple interactions ISO RGD:732791 6480464 NR1I3 protein affects the reaction [Phenobarbital results in increased expression of LMNA mRNA] CTD PMID:19482888 phenobarbital increases expression ISO RGD:732791 6480464 Phenobarbital results in increased expression of LMNA mRNA CTD PMID:19482888 pirinixic acid decreases expression ISO RGD:732791 6480464 pirinixic acid results in decreased expression of LMNA mRNA CTD PMID:17426115 pirinixic acid increases expression ISO RGD:620456 6480464 pirinixic acid results in increased expression of LMNA mRNA CTD PMID:19162173 pirinixic acid increases expression ISO RGD:732791 6480464 pirinixic acid results in increased expression of LMNA mRNA CTD PMID:16221962 pirinixic acid multiple interactions EXP   6480464 [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of LMNA mRNA CTD PMID:19710929 quercetin decreases expression EXP   6480464 Quercetin results in decreased expression of LMNA protein CTD PMID:15221776 quinoline decreases expression EXP   6480464 quinoline analog results in decreased expression of LMNA protein CTD PMID:18645022 quinoline increases expression EXP   6480464 quinoline analog results in increased expression of LMNA protein CTD PMID:18645022 rel-(3R,5S)-fluvastatin decreases farnesylation EXP   6480464 fluvastatin results in decreased farnesylation of LMNA protein CTD PMID:16996129 resveratrol decreases expression ISO RGD:732791 6480464 resveratrol results in decreased expression of LMNA mRNA CTD PMID:22610192 resveratrol increases cleavage EXP   6480464 resveratrol results in increased cleavage of LMNA protein CTD PMID:17007014 PMID:16518869 resveratrol increases cleavage EXP   6480464 resveratrol results in increased cleavage of LMNA protein CTD PMID:16518869 PMID:17007014 resveratrol multiple interactions EXP   6480464 resveratrol promotes the reaction [CASP6 protein results in increased cleavage of LMNA protein]; more ... CTD PMID:16518869 rosiglitazone affects expression EXP   6480464 rosiglitazone affects the expression of LMNA protein CTD PMID:19556978 selenium atom increases expression EXP   6480464 Selenium results in increased expression of LMNA mRNA CTD PMID:19244175 tamoxifen affects expression ISO RGD:732791 6480464 Tamoxifen affects the expression of LMNA mRNA CTD PMID:17555576 trans-resveratrol decreases expression ISO RGD:732791 6480464 resveratrol results in decreased expression of LMNA mRNA CTD PMID:22610192 trans-resveratrol increases cleavage EXP   6480464 resveratrol results in increased cleavage of LMNA protein CTD PMID:17007014 PMID:16518869 trans-resveratrol multiple interactions EXP   6480464 resveratrol promotes the reaction [CASP6 protein results in increased cleavage of LMNA protein]; more ... CTD PMID:16518869 trans-resveratrol increases cleavage EXP   6480464 resveratrol results in increased cleavage of LMNA protein CTD PMID:16518869 PMID:17007014 valproic acid affects expression ISO RGD:732791 6480464 Valproic Acid affects the expression of LMNA mRNA CTD PMID:17292431 valproic acid increases expression ISO RGD:732791 6480464 Valproic Acid results in increased expression of LMNA mRNA CTD PMID:19136453 vancomycin decreases expression ISO RGD:732791 6480464 Vancomycin results in decreased expression of LMNA mRNA CTD PMID:18930951 zoledronic acid decreases farnesylation EXP   6480464 zoledronic acid results in decreased farnesylation of LMNA protein CTD PMID:16996129 Gene Ontology Annotations Biological Process Term Qualifier Evidence With Reference Notes Source Original Reference(s) activation of signaling protein activity involved in unfolded protein response   TAS   2290271 Reactome:REACT_18368 Reactome Reactome:REACT_18368 apoptotic process   TAS   2290271 Reactome:REACT_578 Reactome Reactome:REACT_578 cellular component disassembly involved in execution phase of apoptosis   TAS   2290271 Reactome:REACT_995 Reactome Reactome:REACT_995 cellular protein metabolic process   TAS   2290271 Reactome:REACT_17015 Reactome Reactome:REACT_17015 cellular response to hypoxia   IEP   2290271 PMID:20810912 UniProtKB PMID:20810912 endoplasmic reticulum unfolded protein response   TAS   2290271 Reactome:REACT_18356 Reactome Reactome:REACT_18356 establishment or maintenance of microtubule cytoskeleton polarity   ISS UniProtKB:P48678 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 M phase of mitotic cell cycle   TAS   2290271 Reactome:REACT_910 Reactome Reactome:REACT_910 mitotic anaphase   TAS   2290271 Reactome:REACT_1275 Reactome Reactome:REACT_1275 mitotic cell cycle   TAS   2290271 Reactome:REACT_152 Reactome Reactome:REACT_152 mitotic nuclear envelope disassembly   TAS   2290271 Reactome:REACT_160255 Reactome Reactome:REACT_160255 mitotic nuclear envelope reassembly   TAS   2290271 Reactome:REACT_160113 Reactome Reactome:REACT_160113 mitotic prophase   TAS   2290271 Reactome:REACT_765 Reactome Reactome:REACT_765 muscle organ development   IMP   2290271 PMID:10080180 UniProtKB PMID:10080180 positive regulation of cell aging   IDA   2290271 PMID:20458013 UniProtKB PMID:20458013 protein localization to nucleus   ISS UniProtKB:P48678 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 regulation of apoptotic process   ISS UniProtKB:P48678 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 regulation of cell migration   ISS UniProtKB:P48678 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 sterol regulatory element binding protein import into nucleus   IEA Ensembl:ENSMUSP00000029699 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 ventricular cardiac muscle cell development   IEA Ensembl:ENSMUSP00000029699 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 Cellular Component Term Qualifier Evidence With Reference Notes Source Original Reference(s) cytoplasm   IDA   2290271 GO_REF:0000052 HPA GO_REF:0000052 cytosol   TAS   2290271 Reactome:REACT_160075 Reactome Reactome:REACT_160075 intermediate filament   TAS   2290271 PMID:8344919 UniProtKB PMID:8344919 intermediate filament   IEA UniProtKB-KW:KW-0403 2290271 GO_REF:0000038 UniProtKB GO_REF:0000038 lamin filament   TAS   2290271 PMID:10080180 UniProtKB PMID:10080180 lamin filament   IEA Ensembl:ENSMUSP00000029699 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 nuclear envelope   IDA   2290271 PMID:18606848 UniProtKB PMID:18606848 nuclear envelope   TAS   2290271 PMID:3453101 UniProtKB PMID:3453101 nuclear envelope   TAS   2290271 Reactome:REACT_13476 Reactome Reactome:REACT_13476 nuclear lamina   TAS   2290271 PMID:8344919 UniProtKB PMID:8344919 nucleoplasm   TAS   2290271 Reactome:REACT_116134 Reactome Reactome:REACT_116134 nucleoplasm   TAS   2290271 Reactome:REACT_160075 Reactome Reactome:REACT_160075 nucleoplasm   TAS   2290271 Reactome:REACT_160221 Reactome Reactome:REACT_160221 nucleoplasm   TAS   2290271 Reactome:REACT_13476 Reactome Reactome:REACT_13476 nucleus   IDA   2290271 PMID:18809582 MGI PMID:18809582 nucleus   IDA   2290271 GO_REF:0000052 HPA GO_REF:0000052 nucleus   IDA   2290271 PMID:20810912 UniProtKB PMID:20810912 perinuclear region of cytoplasm   IDA   2290271 PMID:10080180 UniProtKB PMID:10080180 Molecular Function Term Qualifier Evidence With Reference Notes Source Original Reference(s) protein binding   IPI UniProtKB:Q9UHQ1 2290271 PMID:10514485 HGNC PMID:10514485 protein binding   IPI UniProtKB:O60238 2290271 PMID:10381623 UniProtKB PMID:10381623 protein binding   IPI UniProtKB:P03247 2290271 PMID:10381623 UniProtKB PMID:10381623 protein binding   IPI UniProtKB:Q09013 2290271 PMID:21949239 UniProtKB PMID:21949239 protein binding   IPI UniProtKB:Q9UH99 2290271 PMID:19933576 UniProtKB PMID:19933576 protein binding   IPI UniProtKB:Q9D666 2290271 PMID:19933576 UniProtKB PMID:19933576 protein binding   IPI UniProtKB:P50402 2290271 PMID:19323649 UniProtKB PMID:19323649 protein binding   IPI UniProtKB:Q8WXH0 2290271 PMID:15671068 UniProtKB PMID:15671068 protein binding   IPI UniProtKB:Q8NF91 2290271 PMID:11801724 UniProtKB PMID:11801724 protein binding   IPI UniProtKB:P18054 2290271 PMID:10727209 IntAct PMID:10727209 structural molecule activity   IEA InterPro:IPR001664 2290271 GO_REF:0000002 InterPro GO_REF:0000002 structural molecule activity   TAS   2290271 PMID:8344919 UniProtKB PMID:8344919 structural molecule activity   TAS   2290271 PMID:3453101 UniProtKB PMID:3453101 Molecular Pathway Annotations Term Qualifier Evidence With Reference Notes Source Original Reference(s) arrhythmogenic right ventricular cardiomyopathy pathway   IEA RGD:732790 6907045   KEGG hsa:05412 atherosclerosis pathway   TAS   1580530   RGD   dilated cardiomyopathy pathway   IEA RGD:732790 6907045   KEGG hsa:05414 hypertrophic cardimyopathy pathway   IEA RGD:732790 6907045   KEGG hsa:05410 External Database Links KEGG Pathway Arrhythmogenic right ventricular cardiomyopathy (ARVC) Dilated cardiomyopathy Hypertrophic cardiomyopathy (HCM) Pathway Interaction Database Caspase cascade in apoptosis (PID:200173) Phenotype Annotations Term Qualifier Evidence With Reference Notes Source Original Reference(s) demyelination   IED   1358482   RGD   dilated cardiomyopathy   IAGP   1580515   RGD   premature aging   TAS   1580514   RGD   premature death   TAS   1580514   RGD   Disease Annotations Arrhythmias, Cardiac  (ISS) Arteriosclerosis  (ISS) Cardiomyopathy, Dilated  (IAGP,IEA,ISS) Cerebrovascular Disorders  (IAGP) Charcot-Marie-Tooth Disease  (IAGP) Charcot-Marie-Tooth disease, Type 2B1  (IEA) Diabetes Mellitus, Lipoatrophic  (IAGP) Diabetes Mellitus, Type 2  (IAGP) Diabetic Nephropathies  (IAGP) Heart-hand syndrome, Slovenian type  (IEA) Hutchinson Gilford progeria syndrome  (IEA) Limb-girdle muscular dystrophy, type 1B  (IEA) Lipodystrophy  (IAGP) LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2  (IEA) Mandibuloacral dysplasia with type A lipodystrophy  (IEA) Metabolic Syndrome X  (IAGP) Muscular Dystrophy, Congenital, Lmna-Related  (IEA) Muscular Dystrophy, Emery-Dreifuss  (IAGP,IEA) Progeria  (IAGP,IEA,ISS) Tight skin contracture syndrome, lethal  (IEA) Gene-Chemical Interaction Annotations (3S,5R)-fluvastatin  (EXP) 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO) 17alpha-ethynylestradiol  (ISO) 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP) 2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO) 2,4,6-trinitrotoluene  (ISO) 2,4-dinitrotoluene  (ISO) 2,6-dinitrotoluene  (ISO) 2-methylcholine  (EXP) 3',5'-cyclic AMP  (ISO) 5-fluorouracil  (EXP) 7,12-dimethyltetraphene  (ISO) acetylsalicylic acid  (EXP) aflatoxin B1  (ISO) ammonium chloride  (ISO) benzo[a]pyrene  (EXP,ISO) bis(2-chloroethyl) sulfide  (EXP) cisplatin  (EXP,ISO) clofibrate  (ISO) cobalt dichloride  (EXP) cyclosporin A  (EXP) deoxycholic acid  (EXP) dibutyl phthalate  (ISO) doxorubicin  (EXP) elemental selenium  (EXP) fluoxetine  (ISO) flutamide  (ISO) fumonisin B1  (ISO) genistein  (EXP) hyaluronic acid  (ISO) hydrogen peroxide  (ISO) hydroquinone  (EXP) lithium atom  (ISO) mercury atom  (EXP) mercury(0)  (EXP) mitomycin C  (EXP) N-nitrosodiethylamine  (ISO) naphthalene  (ISO) paracetamol  (ISO) phenobarbital  (ISO) pirinixic acid  (EXP,ISO) quercetin  (EXP) quinoline  (EXP) rel-(3R,5S)-fluvastatin  (EXP) resveratrol  (EXP,ISO) rosiglitazone  (EXP) selenium atom  (EXP) tamoxifen  (ISO) trans-resveratrol  (EXP,ISO) valproic acid  (ISO) vancomycin  (ISO) zoledronic acid  (EXP) Gene Ontology Annotations Biological Process activation of signaling protein activity involved in unfolded protein response  (TAS) apoptotic process  (TAS) cellular component disassembly involved in execution phase of apoptosis  (TAS) cellular protein metabolic process  (TAS) cellular response to hypoxia  (IEP) endoplasmic reticulum unfolded protein response  (TAS) establishment or maintenance of microtubule cytoskeleton polarity  (ISS) M phase of mitotic cell cycle  (TAS) mitotic anaphase  (TAS) mitotic cell cycle  (TAS) mitotic nuclear envelope disassembly  (TAS) mitotic nuclear envelope reassembly  (TAS) mitotic prophase  (TAS) muscle organ development  (IMP) positive regulation of cell aging  (IDA) protein localization to nucleus  (ISS) regulation of apoptotic process  (ISS) regulation of cell migration  (ISS) sterol regulatory element binding protein import into nucleus  (IEA) ventricular cardiac muscle cell development  (IEA) Cellular Component cytoplasm  (IDA) cytosol  (TAS) intermediate filament  (IEA,TAS) lamin filament  (IEA,TAS) nuclear envelope  (IDA,TAS) nuclear lamina  (TAS) nucleoplasm  (TAS) nucleus  (IDA) perinuclear region of cytoplasm  (IDA) Molecular Function protein binding  (IPI) structural molecule activity  (IEA,TAS) Molecular Pathway Annotations arrhythmogenic right ventricular cardiomyopathy pathway  (IEA) atherosclerosis pathway  (TAS) dilated cardiomyopathy pathway  (IEA) hypertrophic cardimyopathy pathway  (IEA) External Database Links KEGG Pathway Arrhythmogenic right ventricular cardiomyopathy (ARVC) Dilated cardiomyopathy Hypertrophic cardiomyopathy (HCM) Pathway Interaction Database Caspase cascade in apoptosis (PID:200173) Phenotype Annotations demyelination  (IED) dilated cardiomyopathy  (IAGP) premature aging  (TAS) premature death  (TAS) References - curated 1. Al-Shali KZ and Hegele RA, Arterioscler Thromb Vasc Biol. 2004 Sep;24(9):1591-5. Epub 2004 Jun 17. 2. Almofti MR, etal., Clin Exp Pharmacol Physiol. 2006 Apr;33(4):305-9. 3. Cao H and Hegele RA, Hum Mol Genet. 2000 Jan 1;9(1):109-12. 4. Hegele RA, etal., Arterioscler Thromb Vasc Biol. 2003 Jan 1;23(1):111-6. 5. Liang H, etal., Clin Endocrinol (Oxf). 2005 Sep;63(3):317-22. 6. McClintock D, etal., Proc Natl Acad Sci U S A. 2006 Feb 14;103(7):2154-9. Epub 2006 Feb 6. 7. Mesa JL, etal., Diabetes. 2007 Mar;56(3):884-9. 8. Mounkes LC, etal., Nature 2003 May 15;423(6937):298-301. 9. Muchir A, etal., J Clin Invest. 2007 May;117(5):1282-93. Epub 2007 Apr 19. 10. Pasotti M, etal., J Am Coll Cardiol. 2008 Oct 7;52(15):1250-60. 11. Pipeline to import KEGG annotations from KEGG into RGD Pathway Ontology 12. RGD automated import pipeline for gene-chemical interactions 13. RGD Automated Pipelines 14. Steinle NI, etal., Arterioscler Thromb Vasc Biol. 2004 Sep;24(9):1708-13. Epub 2004 Jun 17. 15. Taylor MR, etal., J Am Coll Cardiol. 2003 Mar 5;41(5):771-80. 16. Tazir M, etal., Brain 2004 Jan;127(Pt 1):154-63. Epub 2003 Nov 7. 17. van der Kooi AJ, etal., Neurology. 2002 Aug 27;59(4):620-3. 18. Wegner L, etal., Diabetes. 2007 Mar;56(3):694-8. 19. Wolf CM, etal., J Mol Cell Cardiol. 2008 Feb;44(2):293-303. Epub 2007 Dec 3. 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15302935   15317753   15342704   15355978   15372542   15476822   15489334   15527767   15551023   15622532   15635413   15636422   15639119   15668447   15671068   15748902   15793835   15798706   15919811   15961312   15982412   1599464   15998779   16009940   1602151   16061563   16083285   16084085   16126733   16129833   16159877   16169070   16179429   16212417   16218190   16236267   16239243   16246140   16248985   16262891   16266469   16288872   16289535   16344005   16344560   16357800   16371512   16410549   16452503   16481476   16518869   16565220   16645051   1667585   16697197   16738054   16772334   16779558   16823856   16825283   16916647   16964243   16981056   17069459   17081983   17090536   17097067   17117676   17136397   17150192   17227891   17291448   17301031   17306257   17314511   17327460   17334235   17342744   17352743   17360326   17360355   17428859   17454124   17459035   17469202   17536044   17550303   17573780   17605093   17612587   17620012   17683050   17701980   17711925   17718387   17760566   17848622   17870066   17881656   17893350   17935239   17987279   17994215   18029348   18031308   18035086   18041775   18077842   18093584   18308323   18311132   18337098   18339564   18348272   18364375   18396274   18442054   18442998   18478590   18497734   18497856   18502446   18524819   18538321   18549403   18551513   18564364   18585512   18604166   18606848   18611980   18612243   18643848   18646565   18654987   18667561   18691775   18714339   18714801   18767923   18795223   18805829   18809582   18816602   18830724   18836436   18843043   18848371   18923140   18946024   18950579   18959190   18982914   19015316   19022376   19084400   19124654   19126678   19141474   19144202   19172989   19201734   19204888   19220582   19247430   19270485   19283854   19318026   19323649   19328042   19351612   19384091   19401371   19424285   19427440   19442658   19446900   19471022   19490114   19524666   19574635   19578796   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21498514   21535365   21596650   21599722   21621406   21627864   21628590   21632249   21655223   21670151   21670498   21689390   21693764   21724554   21800051   21818408   21846512   21853274   21875900   21890473   21903150   21906983   21915271   21941106   21945321   21963094   21980471   21982404   21987572   21988832   21993218   22029807   22057372   22065502   22071332   2209722   22178446   22186027   22199124   22224630   22231515   22266370   22281253   22301279   22326558   22340368   22413764   22431096   22505724   22533413   22549407   22555846   22560296   22586326   22623428   22700598   22751105   22773734   22806367   22840390   22863883   22893709   22939629   23000965   23048029   23049808   23062543   23197810   23329710   23383273   2344612   2406262   2544227   3403563   3453101   3462705   7628545   7925482   7951328   8058329   8278403   8324822   8344919   8477740   8511676   8621584   8838815   8889548   8978814   9030603   9106535   9243284   9274531   9367621   9436978   9563518 RGD Disease Portals LMNA has been annotated in the following RGD Disease Portals. Biological Process Cancer Pathways Biological Process Cardiovascular Diseases Cardiovascular Pathways Cardiovascular Phenotypes Diabetes Diseases Diabetes Pathways Neurological Diseases Neurological Pathways Neurological Phenotypes Obesity Diseases Respiratory Pathways Genomics Candidate Gene Status LMNA is a candidate Gene for BW299_H LMNA is a candidate Gene for GLUCO149_H LMNA is a candidate Gene for GLUCO177_H Comparative Map Data LMNA   (Homo sapiens) Map Chr Position Strand Source Human Alternate Assembly CHM1_1 1 162,553,280 - 162,610,767 + NCBI Human Genome Assembly HuRef 1 127,414,589 - 127,472,062 + NCBI Human Genome Assembly GRCh37 1 156,052,369 - 156,109,880 + NCBI Human Genome Assembly Build 36 1 154,351,085 - 154,376,502 + NCBI Human Cytogenetic Map 1 q22   NCBI Human Genome Assembly 1 152,897,570 - 152,922,944   NCBI Lmna   (Mus musculus) Map Chr Position Strand Source Mouse Genome Assembly GRCm38 3 88,481,149 - 88,503,332 - NCBI Mouse cM Map 3 38.84   NCBI Mouse Celera Assembly 3 88,521,102 - 88,543,289 - NCBI Mouse Genome Assembly Build 37 3 88,285,071 - 88,307,254 - NCBI Mouse Genome Assembly Build 36.1 3 88,285,071 - 88,307,229 - NCBI Mouse Cytogenetic Map 3 F1   NCBI Lmna   (Rattus norvegicus) Map Chr Position Strand Source Rat Cytogenetic Map 2 q31-q34   NCBI RGSC Genome Assembly v5.0 2 207,245,239 - 207,265,869 - NCBI RGSC Genome Assembly v3.4 2 180,595,724 - 180,616,354 - NCBI Rat Celera Assembly 2 167,884,344 - 167,904,974 - NCBI Genome Assembly 3.1 2 180,545,829 - 180,566,460 - NCBI Position Markers G15913   Map Chr Position Strand Source Human Genome Assembly HuRef 1 127,471,372 - 127,471,633   UniSTS Human Genome Assembly GRCh37 1 156,109,190 - 156,109,451   UniSTS Human Celera Assembly 1 129,182,182 - 129,182,443   RGD Human Genome Assembly Build 36 1 154,375,814 - 154,376,075   RGD Human Cytogenetic Map 1 q22   UniSTS PMC169171P1   Map Chr Position Strand Source Human Genome Assembly HuRef 1 127,446,748 - 127,447,096   UniSTS Human Genome Assembly GRCh37 1 156,084,537 - 156,084,885   UniSTS Human Celera Assembly 1 129,157,529 - 129,157,877   RGD Human Genome Assembly Build 36 1 154,351,161 - 154,351,509   RGD Human Cytogenetic Map 1 q22   UniSTS PMC169171P2   Map Chr Position Strand Source Human Genome Assembly HuRef 1 127,446,990 - 127,447,096   UniSTS Human Genome Assembly GRCh37 1 156,084,779 - 156,084,885   UniSTS Human Celera Assembly 1 129,157,771 - 129,157,877   RGD Human Genome Assembly Build 36 1 154,351,403 - 154,351,509   RGD Human Cytogenetic Map 1 q22   UniSTS PMC169171P3   Map Chr Position Strand Source Human Genome Assembly HuRef 1 127,446,990 - 127,447,321   UniSTS Human Genome Assembly GRCh37 1 156,084,779 - 156,085,110   UniSTS Human Celera Assembly 1 129,157,771 - 129,158,102   RGD Human Genome Assembly Build 36 1 154,351,403 - 154,351,734   RGD Human Cytogenetic Map 1 q22   UniSTS PMC169171P4   Map Chr Position Strand Source Human Genome Assembly HuRef 1 127,466,332 - 127,466,561   UniSTS Human Genome Assembly GRCh37 1 156,104,150 - 156,104,379   UniSTS Human Celera Assembly 1 129,177,142 - 129,177,371   RGD Human Genome Assembly Build 36 1 154,370,774 - 154,371,003   RGD Human Cytogenetic Map 1 q22   UniSTS PMC169171P5   Map Chr Position Strand Source Human Genome Assembly HuRef 1 127,467,812 - 127,468,171   UniSTS Human Genome Assembly GRCh37 1 156,105,630 - 156,105,989   UniSTS Human Celera Assembly 1 129,178,622 - 129,178,981   RGD Human Genome Assembly Build 36 1 154,372,254 - 154,372,613   RGD Human Cytogenetic Map 1 q22   UniSTS PMC169171P6   Map Chr Position Strand Source Human Genome Assembly HuRef 1 127,469,432 - 127,469,935   UniSTS Human Genome Assembly GRCh37 1 156,107,250 - 156,107,753   UniSTS Human Celera Assembly 1 129,180,242 - 129,180,745   RGD Human Genome Assembly Build 36 1 154,373,874 - 154,374,377   RGD Human Cytogenetic Map 1 q22   UniSTS LMNA_902   Map Chr Position Strand Source Human Genome Assembly HuRef 1 127,471,404 - 127,472,276   UniSTS Human Genome Assembly GRCh37 1 156,109,222 - 156,110,080   UniSTS Human Celera Assembly 1 129,182,214 - 129,183,072   RGD Human Genome Assembly Build 36 1 154,375,846 - 154,376,704   RGD RH69068   Map Chr Position Strand Source Human GeneMap99-GB4 RH Map 1 562.37   UniSTS Human Genome Assembly HuRef 1 127,471,342 - 127,471,485   UniSTS Human Genome Assembly GRCh37 1 156,109,160 - 156,109,303   UniSTS Human Celera Assembly 1 129,182,152 - 129,182,295   RGD Human Genome Assembly Build 36 1 154,375,784 - 154,375,927   RGD Human Cytogenetic Map 1 q22   UniSTS D20S1027   Map Chr Position Strand Source Human Whitehead-RH Map 1 692.0   UniSTS Human GeneMap99-GB4 RH Map 1 562.19   UniSTS Human Genome Assembly HuRef 1 127,471,788 - 127,471,904   UniSTS Human Genome Assembly HuRef 10 73,994,669 - 73,994,785   UniSTS Human Genome Assembly GRCh37 10 79,999,682 - 79,999,798   UniSTS Human Genome Assembly GRCh37 1 156,109,606 - 156,109,722   UniSTS Human Celera Assembly 10 73,286,298 - 73,286,414   UniSTS Human Celera Assembly 1 129,182,598 - 129,182,714   RGD Human Genome Assembly Build 36 1 154,376,230 - 154,376,346   RGD Human Cytogenetic Map 1 q22   UniSTS QTLs in Region (Human Genome Assembly GRCh37) The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer RGD ID Symbol Name LOD P Value Trait Sub Trait Chr Start Stop Species 1581540 BP60_H Blood pressure QTL 60 (human) Blood pressure hypertension susceptibility 1 19957148 198620398 Human 1331645 COPD18_H Chronic obstructive pulmonary disease QTL 18 (human) 1.92 Chronic airflow obstruction FEV1/FVC ratio 1 74229391 157932881 Human 1357381 BW57_H Body weight QTL 57 (human) 1 .0001 Body weight fat free mass after exercise training 1 91558770 166956374 Human 2289241 SLIPL21_H Serum lipid level QTL 21 (human) 3.39 .014402 Lipid level lipoprotein level 1 119678264 162362069 Human 2316338 GLUCO223_H Glucose level QTL 223 (human) 3.09 .00008 Glucose level 1 139437503 165437503 Human 2293485 PRSTS288_H Prostate tumor susceptibility QTL 288 (human) .031 Prostate tumor susceptibility 1 144932827 170932827 Human 2316705 GLUCO265_H Glucose level QTL 265 (human) 2.5 .00066 Glucose level 1 147767637 173767637 Human 2314801 GLUCO120_H Glucose level QTL 120 (human) Glucose level non-insulin dependent 1 148192596 174192596 Human 1298491 BP5_H Blood pressure QTL 5 (human) 2.96 Blood pressure diastolic 1 149361992 175361992 Human 1643514 BW260_H Body weight QTL 260 (human) 1.6 .00328 Body weight body mass index 1 149361992 175361992 Human 2301804 PRSTS430_H Prostate tumor susceptibility QTL 430 (human) 2.93 .0002 Prostate tumor susceptibility 1 150559802 176559802 Human 2289201 BW345_H Body weight QTL 345 (human) .0148 Body fat amount percent fat 1 150559802 176559802 Human 2293474 PRSTS289_H Prostate tumor susceptibility QTL 289 (human) .003 Prostate tumor susceptibility 1 150559802 176559802 Human 1643072 BW150_H Body weight QTL 150 (human) .0297 Body fat amount percent body fat 1 152437380 178437380 Human 2314796 GLUCO121_H Glucose level QTL 121 (human) Glucose level non-insulin dependent 1 153596141 179596141 Human Sequence Nucleotide Sequences Nucleotide RefSeqs NG_008692 (Get FASTA) Search GEO for Microarray Profiles   NM_001257374 (Get FASTA) Search GEO for Microarray Profiles   NM_005572 (Get FASTA) Search GEO for Microarray Profiles   NM_170707 (Get FASTA) Search GEO for Microarray Profiles   NM_170708 (Get FASTA) Search GEO for Microarray Profiles   NR_047544 (Get FASTA) Search GEO for Microarray Profiles   NR_047545 (Get FASTA) Search GEO for Microarray Profiles GenBank Nucleotide AA558657 (Get FASTA) Search GEO for Microarray Profiles   ABBA01016670 (Get FASTA) Search GEO for Microarray Profiles   ABBA01016671 (Get FASTA) Search GEO for Microarray Profiles   AF381029 (Get FASTA) Search GEO for Microarray Profiles   AI872233 (Get FASTA) Search GEO for Microarray Profiles   AK026584 (Get FASTA) Search GEO for Microarray Profiles   AK056143 (Get FASTA) Search GEO for Microarray Profiles   AK056191 (Get FASTA) Search GEO for Microarray Profiles   AK057997 (Get FASTA) Search GEO for Microarray Profiles   AK097801 (Get FASTA) Search GEO for Microarray Profiles   AK098128 (Get FASTA) Search GEO for Microarray Profiles   AK122732 (Get FASTA) Search GEO for Microarray Profiles   AK130179 (Get FASTA) Search GEO for Microarray Profiles   AK294217 (Get FASTA) Search GEO for Microarray Profiles   AK295390 (Get FASTA) Search GEO for Microarray Profiles   AK309539 (Get FASTA) Search GEO for Microarray Profiles   AL135927 (Get FASTA) Search GEO for Microarray Profiles   AL355388 (Get FASTA) Search GEO for Microarray Profiles   AL356734 (Get FASTA) Search GEO for Microarray Profiles   AMYH01001435 (Get FASTA) Search GEO for Microarray Profiles   AY357727 (Get FASTA) Search GEO for Microarray Profiles   AY528714 (Get FASTA) Search GEO for Microarray Profiles   AY847595 (Get FASTA) Search GEO for Microarray Profiles   AY847596 (Get FASTA) Search GEO for Microarray Profiles   AY847597 (Get FASTA) Search GEO for Microarray Profiles   BC000511 (Get FASTA) Search GEO for Microarray Profiles   BC003162 (Get FASTA) Search GEO for Microarray Profiles   BC014507 (Get FASTA) Search GEO for Microarray Profiles   BC018863 (Get FASTA) Search GEO for Microarray Profiles   BC033088 (Get FASTA) Search GEO for Microarray Profiles   BG822820 (Get FASTA) Search GEO for Microarray Profiles   BU732343 (Get FASTA) Search GEO for Microarray Profiles   CB854404 (Get FASTA) Search GEO for Microarray Profiles   CH471121 (Get FASTA) Search GEO for Microarray Profiles   DA421696 (Get FASTA) Search GEO for Microarray Profiles   DC400775 (Get FASTA) Search GEO for Microarray Profiles   L12399 (Get FASTA) Search GEO for Microarray Profiles   M13451 (Get FASTA) Search GEO for Microarray Profiles   M13452 (Get FASTA) Search GEO for Microarray Profiles   X03444 (Get FASTA) Search GEO for Microarray Profiles   X03445 (Get FASTA) Search GEO for Microarray Profiles Reference Sequences RefSeq Acc Id: NM_170707 RefSeq Status: REVIEWED Type: CODING Protein Acc Id: NP_733821 Peptide Label: isoform A Position: Map Chr Position Strand Source Human Alternate Assembly CHM1_1 1 162,553,280 - 162,610,767 + NCBI Human Genome Assembly HuRef 1 127,414,589 - 127,472,062 + NCBI Human Genome Assembly GRCh37 1 156,052,369 - 156,109,880 + NCBI Human Genome Assembly Build 36 1 154,351,085 - 154,376,502 + NCBI Archive RefSeq Acc Id: NM_170708 RefSeq Status: REVIEWED Type: CODING Protein Acc Id: NP_733822 Peptide Label: isoform A delta10 Position: Map Chr Position Strand Source Human Alternate Assembly CHM1_1 1 162,553,280 - 162,610,767 + NCBI Human Genome Assembly HuRef 1 127,414,589 - 127,472,062 + NCBI Human Genome Assembly GRCh37 1 156,052,369 - 156,109,880 + NCBI Human Genome Assembly Build 36 1 154,351,085 - 154,376,502 + NCBI Archive RefSeq Acc Id: NM_005572 RefSeq Status: REVIEWED Type: CODING Protein Acc Id: NP_005563 Peptide Label: isoform C Position: Map Chr Position Strand Source Human Alternate Assembly CHM1_1 1 162,553,280 - 162,610,767 + NCBI Human Genome Assembly HuRef 1 127,414,589 - 127,472,062 + NCBI Human Genome Assembly HuRef 1 127,414,589 - 127,472,062 + NCBI Human Genome Assembly GRCh37 1 156,052,369 - 156,109,880 + NCBI Human Genome Assembly GRCh37 1 156,052,369 - 156,109,880 + NCBI Human Genome Assembly Build 36 1 154,351,085 - 154,374,281 + NCBI Archive RefSeq Acc Id: NR_047544 RefSeq Status: REVIEWED Type: NON-CODING Position: Map Chr Position Strand Source Human Alternate Assembly CHM1_1 1 162,553,280 - 162,610,767 + NCBI RefSeq Acc Id: NM_001257374 RefSeq Status: REVIEWED Type: CODING Protein Acc Id: NP_001244303 Peptide Label: isoform D Position: Map Chr Position Strand Source Human Alternate Assembly CHM1_1 1 162,553,280 - 162,610,767 + NCBI Human Genome Assembly HuRef 1 127,414,589 - 127,472,062 + NCBI Human Genome Assembly GRCh37 1 156,052,369 - 156,109,880 + NCBI RefSeq Acc Id: NR_047545 RefSeq Status: REVIEWED Type: NON-CODING Position: Map Chr Position Strand Source Human Alternate Assembly CHM1_1 1 162,553,280 - 162,610,767 + NCBI Human Genome Assembly HuRef 1 127,414,589 - 127,472,062 + NCBI Human Genome Assembly GRCh37 1 156,052,369 - 156,109,880 + NCBI Protein Sequences Protein RefSeqs NP_001244303 (Get FASTA)   NP_005563 (Get FASTA)   NP_733821 (Get FASTA)   NP_733822 (Get FASTA) GenBank Protein AAA36160 (Get FASTA)   AAA36164 (Get FASTA)   AAH00511 (Get FASTA)   AAH03162 (Get FASTA)   AAH14507 (Get FASTA)   AAH33088 (Get FASTA)   AAK59326 (Get FASTA)   AAR29466 (Get FASTA)   AAW32538 (Get FASTA)   AAW32539 (Get FASTA)   AAW32540 (Get FASTA)   ABB04050 (Get FASTA)   ACE86595 (Get FASTA)   ACE86831 (Get FASTA)   ACE87276 (Get FASTA)   ACE87517 (Get FASTA)   BAG57524 (Get FASTA)   BAG58344 (Get FASTA)   CAA27173 (Get FASTA)   CAA27174 (Get FASTA)   EAW52996 (Get FASTA)   EAW52997 (Get FASTA)   EAW52998 (Get FASTA)   EAW52999 (Get FASTA)   EAW53000 (Get FASTA)   P02545 (Get FASTA) Promoters RGD ID: 6809613 Promoter ID: HG_ACW:4277 Type: CpG-Island SO ACC ID: SO:0000170 Source: MPROMDB Tissues & Cell Lines: CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid Transcripts: LMNA.QAPR07,   LMNA.VAAPR07 Position: Map Chr Position Strand Source Human Genome Assembly Build 36 1 154,342,641 - 154,343,141 + MPROMDB RGD ID: 6785939 Promoter ID: HG_KWN:5477 Type: CpG-Island SO ACC ID: SO:0000170 Source: MPROMDB Tissues & Cell Lines: CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4 Transcripts: ENST00000292302,   ENST00000368298,   ENST00000392355,   NM_170708,   OTTHUMT00000039200,   OTTHUMT00000039201,   UC001FNG.2,   UC009WRO.1 Position: Map Chr Position Strand Source Human Genome Assembly Build 36 1 154,350,781 - 154,351,672 + MPROMDB RGD ID: 6785940 Promoter ID: HG_KWN:5479 Type: Non-CpG SO ACC ID: SO:0000170 Source: MPROMDB Tissues & Cell Lines: CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4 Transcripts: ENST00000392353,   OTTHUMT00000039198,   UC001FNJ.1,   UC001FNK.2 Position: Map Chr Position Strand Source Human Genome Assembly Build 36 1 154,361,606 - 154,363,282 + MPROMDB RGD ID: 6785934 Promoter ID: HG_KWN:5480 Type: Non-CpG SO ACC ID: SO:0000170 Source: MPROMDB Tissues & Cell Lines: HeLa_S3,   Lymphoblastoid Transcripts: OTTHUMT00000039197,   OTTHUMT00000039445,   UC009WRP.1 Position: Map Chr Position Strand Source Human Genome Assembly Build 36 1 154,370,731 - 154,371,382 + MPROMDB RGD ID: 6785936 Promoter ID: HG_KWN:5481 Type: CpG-Island SO ACC ID: SO:0000170 Source: MPROMDB Tissues & Cell Lines: HeLa_S3,   K562 Transcripts: OTTHUMT00000039446 Position: Map Chr Position Strand Source Human Genome Assembly Build 36 1 154,372,031 - 154,373,382 + MPROMDB Additional Information External Database Links Database Acc Id Source(s) COSMIC LMNA COSMIC Ensembl Genes ENSG00000160789 ENTREZGENE Ensembl Protein ENSP00000292304 ENTREZGENE   ENSP00000355292 ENTREZGENE   ENSP00000357283 ENTREZGENE   ENSP00000395597 ENTREZGENE Ensembl Transcript ENST00000347559 ENTREZGENE   ENST00000361308 ENTREZGENE   ENST00000368300 ENTREZGENE   ENST00000448611 ENTREZGENE Entrez Gene 4000 ENTREZGENE Germonline ENSG00000160789 HGNC ID 6636 ENTREZGENE HomoloGene Group ID 41321 ENTREZGENE HPRD ID 01035 ENTREZGENE InterPro IF_tail_C UniProtKB/Swiss-Prot   Intermediate_filament_CS UniProtKB/Swiss-Prot   IPR001664 UniProtKB/Swiss-Prot   IPR016044 UniProtKB/Swiss-Prot IPI IPI00021405 UniProtKB/Swiss-Prot   IPI00216952 UniProtKB/Swiss-Prot   IPI00216953 UniProtKB/Swiss-Prot   IPI00514320 UniProtKB/TrEMBL   IPI00514817 UniProtKB/TrEMBL   IPI00644087 UniProtKB/TrEMBL   IPI00910241 UniProtKB/Swiss-Prot   IPI00966098 UniProtKB/TrEMBL KEGG Report hsa:4000 ENTREZGENE, UniProtKB/Swiss-Prot OMIM 115200 OMIM   150330 OMIM   151660 OMIM   159001 OMIM   176670 OMIM   181350 OMIM   212112 OMIM   248370 OMIM   275210 OMIM   605588 OMIM   610140 OMIM   613205 OMIM PANTHER PTHR23239 UniProtKB/Swiss-Prot Pfam Filament UniProtKB/Swiss-Prot   IF_tail UniProtKB/Swiss-Prot PharmGKB LMNA RGD, PharmGKB PROSITE PS00226 UniProtKB/Swiss-Prot UniGene Hs.594444 ENTREZGENE UniProt D6RAQ3_HUMAN UniProtKB/TrEMBL   D6RB20_HUMAN UniProtKB/TrEMBL   H0YAB0_HUMAN UniProtKB/TrEMBL   LMNA_HUMAN UniProtKB/Swiss-Prot   Q5TCI8_HUMAN UniProtKB/TrEMBL   Q6UYC3_HUMAN UniProtKB/TrEMBL Nomenclature History Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status 2012-04-10 LMNA  lamin A/C  LMNA  lamin A/C  Symbol and/or name change 39860 APPROVED 2011-08-16 LMNA  lamin A/C  LMNA  lamin A/C  Symbol and/or name change 39860 APPROVED

More on LMNA Entrez Gene Ensembl Gene Genome Browser: (hg18) (hg19) HGNC Report NCBI Map Viewer Vista Vista + UCSC RGD Object Information RGD ID: 732790 Created: 2004-01-12 Species: Homo sapiens Last Modified: 2013-05-14 Status: ACTIVE