Human Gene LMNA (uc009wro.2) Description and Page Index
  Description: Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.
RefSeq Summary (NM_005572): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:156,084,504-156,109,880 Size: 25,377 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr1:156,084,710-156,108,897 Size: 24,188 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:156,084,504-156,109,880)mRNA (may differ from genome)Protein (614 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
PubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: SubName: Full=Lamin A/C; SubName: Full=Prelamin-A/C; SubName: Full=Progerin;
SIMILARITY: Belongs to the intermediate filament family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): LMNA
CDC HuGE Published Literature: LMNA
Positive Disease Associations: adipocyte size, large subcutaneous abdominal , Body Weight|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance , cardiomyopathy , diabetes, type 2 , dyslipidemia and insulin resistance , insulin; obesity; leptin , nephropathy in other diseases; cerebrovascular disease
Related Studies:
  1. adipocyte size, large subcutaneous abdominal
    Weyer, C. et al. 2001, Subcutaneous Abdominal Adipocyte Size, a Predictor of Type 2 Diabetes, Is Linked to Chromosome 1q21-q23 and Is Associated with a Common Polymorphism in LMNA in Pima Indians, Molecular genetics and metabolism. 2001 Mar;72(3):231-8. [PubMed 11243729]
    These findings indicate that approximately half of the variance in mean s.c. abd. AS can be attributed to familial factors and that genetic variation in LMNA might not only underlie rare cases of FPLD, but may also contribute to variation in adipocyte size in the general population.
  2. Body Weight|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance
    Wegner L et al. 2010, LMNA rs4641 and the Muscle Lamin A and C Isoforms in Twins--Metabolic Implications and Transcriptional Regulation., The Journal of clinical endocrinology and metabolism 95(8) : 3884-92 2010. [PubMed 20501691]
    The LMNA rs4641 T-allele is associated with increased LBM and FM with more fat relative to muscle in elderly twins, which may impact risk of type 2 diabetes. Increased mRNA levels of lamins with age may counteract muscle wasting, and influence of insulin on lamin A-to-C ratio suggests a role in cytoskeletal muscle protein regulation.
  3. cardiomyopathy
    Hermida-Prieto, M. et al. 2004, Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations., The American journal of cardiology. 2004 Jul;94(1):50-4. [PubMed 15219508]
    Our data associated the R349L and R190W mutations in LMNA with severe forms of familial DC. LMNA mutations should be considered in the genetic screening of patients with familial DC without conduction system disease. Isolated left ventricular noncompaction may be part of the phenotypic spectrum of the laminopathies.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: LMNA
Diseases sorted by gene-association score: hutchinson-gilford progeria* (1726), mandibuloacral dysplasia* (1712), muscular dystrophy, limb-girdle, type 1b* (1679), charcot-marie-tooth disease, type 2b1* (1666), lipodystrophy, familial partial, type 2* (1650), malouf syndrome* (1650), muscular dystrophy, congenital* (1586), emery-dreifuss muscular dystrophy 2, ad* (1572), emery-dreifuss muscular dystrophy 3, ar* (1550), heart-hand syndrome, slovenian type* (1369), cardiomyopathy, dilated, 1a* (1248), restrictive dermopathy, lethal* (895), lmna-related dilated cardiomyopathy* (500), limb-girdle muscular dystrophy* (485), cardiomyopathy* (480), dilated cardiomyopathy* (470), atypical werner syndrome* (468), congenital muscular dystrophy due to lmna mutation* (417), autosomal semi-dominant severe lipodystrophic laminopathy* (350), lmna-related cardiocutaneous progeria syndrome* (350), progeria-associated arthropathy* (350), muscular dystrophy* (341), epidermolysis bullosa simplex with muscular dystrophy* (283), charcot-marie-tooth disease, axonal, type 2s* (233), lmna-related muscle diseases* (200), charcot-marie-tooth disease* (191), scn5a-associated dilated cardiomyopathy* (179), scn5a-related dilated cardiomyopathy* (179), emery-dreifuss muscular dystrophy* (177), cardiomyopathy, dilated, 1e* (163), myh7-related dilated cardiomyopathy* (163), atrial standstill, digenic* (151), familial isolated arrhythmogenic ventricular dysplasia, right dominant form* (143), familial isolated arrhythmogenic ventricular dysplasia, biventricular form* (143), familial isolated arrhythmogenic ventricular dysplasia, left dominant form* (143), roussy-levy syndrome* (133), charcot-marie-tooth disease, type 2e* (128), dilated cardiomyopathy with quadriceps myopathy* (100), lethal restrictive dermopathy, lmna-related* (100), progeroid laminopathies* (100), lmna-related emery-dreifuss muscular dystrophy, autosomal* (100), familial partial lipodystrophy (51), lipodystrophy (41), autosomal dominant limb-girdle muscular dystrophy (26), lipodystrophy, familial partial, type 1* (25), atrioventricular block (18), congenital generalized lipodystrophy (17), werner syndrome (15), ovarian cystadenoma (15), pelger-huet anomaly (14), calcinosis (14), left ventricular noncompaction* (13), reynolds syndrome (12), emerinopathy (12), hajdu-cheney syndrome (12), tooth disease (12), cardiomyopathy, dilated, 1h (11), ulnar nerve lesion (11), median neuropathy (11), arrhythmogenic right ventricular cardiomyopathy (9), acanthosis nigricans (9), proximal myopathy and ophthalmoplegia (8), glucose intolerance (8), muscular dystrophy, congenital merosin-deficient (7), axonal neuropathy (7), sick sinus syndrome (7), xeroderma pigmentosum, group a (6), leukodystrophy, adult-onset, autosomal dominant (6), second-degree atrioventricular block (6), hypertriglyceridemia (6), proximal spinal muscular atrophy (6), congenital fiber-type disproportion (6), hereditary neuropathies (6), intrinsic cardiomyopathy (5), myopathy (5), ullrich congenital muscular dystrophy 1 (5), ventricular tachycardia, catecholaminergic polymorphic, 1 (4), bethlem myopathy 1 (4), hallermann-streiff syndrome (4), muscular dystrophy, limb-girdle, type 2a (4), muscular dystrophy-dystroglycanopathy , type b, 5 (4), alopecia (3), heart disease (3), skin disease (2), autosomal genetic disease (1), muscle tissue disease (1), fanconi anemia, complementation group a (1), diabetes mellitus, noninsulin-dependent (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 124.86 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 2358.63 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -68.40206-0.332 Picture PostScript Text
3' UTR -421.16983-0.428 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016044 - F
IPR001664 - IF
IPR018039 - Intermediate_filament_CS
IPR001322 - Lamin_tail_dom

Pfam Domains:
PF00038 - Intermediate filament protein
PF00932 - Lamin Tail Domain

SCOP Domains:
74853 - Lamin A/C globular tail domain

ModBase Predicted Comparative 3D Structure on Q6UYC3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 Protein SequenceProtein Sequence   

-  Descriptions from all associated GenBank mRNAs
  AK056143 - Homo sapiens cDNA FLJ31581 fis, clone NT2RI2002091, highly similar to LAMIN C.
LF206164 - JP 2014500723-A/13667: Polycomb-Associated Non-Coding RNAs.
X03445 - Human mRNA for nuclear envelope protein lamin C precursor.
X03444 - Human mRNA for nuclear envelope protein lamin A precursor.
AK122732 - Homo sapiens cDNA FLJ16247 fis, clone HCHON2003659, highly similar to LAMIN A.
AK026584 - Homo sapiens cDNA: FLJ22931 fis, clone KAT07501, highly similar to HSLAMAR Human mRNA for nuclear envelope protein lamin A precursor.
AY357727 - Homo sapiens progerin mRNA, complete cds.
BC014507 - Homo sapiens lamin A/C, mRNA (cDNA clone MGC:23638 IMAGE:4863480), complete cds.
BC033088 - Homo sapiens lamin A/C, mRNA (cDNA clone MGC:45654 IMAGE:3623265), complete cds.
BC000511 - Homo sapiens lamin A/C, mRNA (cDNA clone MGC:8539 IMAGE:2822703), complete cds.
BC003162 - Homo sapiens lamin A/C, mRNA (cDNA clone MGC:4219 IMAGE:2958052), complete cds.
AK130179 - Homo sapiens cDNA FLJ26669 fis, clone MPG03096, highly similar to LAMIN A.
M13451 - Human lamin C mRNA, complete cds.
AY528714 - Homo sapiens rhabdomyosarcoma antigen MU-RMS-40.12 mRNA, complete cds, alternatively spliced.
AB527090 - Synthetic construct DNA, clone: pF1KB4020, Homo sapiens LMNA gene for lamin A/C, without stop codon, in Flexi system.
EU831836 - Synthetic construct Homo sapiens clone HAIB:100066865; DKFZo004B0222 lamin A/C protein (LMNA) gene, encodes complete protein.
EU831758 - Synthetic construct Homo sapiens clone HAIB:100066787; DKFZo008B0221 lamin A/C protein (LMNA) gene, encodes complete protein.
EU832261 - Synthetic construct Homo sapiens clone HAIB:100067290; DKFZo004G1026 lamin A/C protein (LMNA) gene, encodes complete protein.
EU832167 - Synthetic construct Homo sapiens clone HAIB:100067196; DKFZo008G1025 lamin A/C protein (LMNA) gene, encodes complete protein.
KJ891551 - Synthetic construct Homo sapiens clone ccsbBroadEn_00945 LMNA gene, encodes complete protein.
KR709897 - Synthetic construct Homo sapiens clone CCSBHm_00007214 LMNA (LMNA) mRNA, encodes complete protein.
KR709898 - Synthetic construct Homo sapiens clone CCSBHm_00007240 LMNA (LMNA) mRNA, encodes complete protein.
KR709899 - Synthetic construct Homo sapiens clone CCSBHm_00007292 LMNA (LMNA) mRNA, encodes complete protein.
KJ891552 - Synthetic construct Homo sapiens clone ccsbBroadEn_00946 LMNA gene, encodes complete protein.
AY847595 - Homo sapiens lamin A/C transcript variant 1 (LMNA) mRNA, complete cds, alternatively spliced.
AY847596 - Homo sapiens lamin A/C transcript variant 1 (LMNA) mRNA, complete cds, alternatively spliced.
AY847597 - Homo sapiens lamin A/C transcript variant 1 (LMNA) mRNA, complete cds, alternatively spliced.
GQ891309 - Homo sapiens clone HEL-S-32a epididymis secretory sperm binding protein mRNA, complete cds.
GQ891406 - Homo sapiens clone HEL-S-124 epididymis secretory sperm binding protein mRNA, complete cds.
GQ891408 - Homo sapiens clone HEL-S-126 epididymis secretory sperm binding protein mRNA, complete cds.
AK057997 - Homo sapiens cDNA FLJ25268 fis, clone STM05518, highly similar to LAMIN A.
AK295390 - Homo sapiens cDNA FLJ56081 complete cds, highly similar to Lamin-A/C.
AK097801 - Homo sapiens cDNA FLJ40482 fis, clone TESTI2043656, highly similar to LAMIN C.
AK056191 - Homo sapiens cDNA FLJ31629 fis, clone NT2RI2003360, highly similar to LAMIN A.
M13452 - Human lamin A mRNA, 3'end.
AK098128 - Homo sapiens cDNA FLJ40809 fis, clone TRACH2009661, highly similar to LAMIN A.
AK309539 - Homo sapiens cDNA, FLJ99580.
AK294217 - Homo sapiens cDNA FLJ55771 complete cds, highly similar to Lamin-A/C.
BC018863 - Homo sapiens lamin A/C, mRNA (cDNA clone IMAGE:3141665).
AF381029 - Homo sapiens lamin Adel10 mRNA, partial cds, alternatively spliced.
MA441741 - JP 2018138019-A/13667: Polycomb-Associated Non-Coding RNAs.
LF352110 - JP 2014500723-A/159613: Polycomb-Associated Non-Coding RNAs.
JD320837 - Sequence 301861 from Patent EP1572962.
JD139108 - Sequence 120132 from Patent EP1572962.
LF352109 - JP 2014500723-A/159612: Polycomb-Associated Non-Coding RNAs.
JD478019 - Sequence 459043 from Patent EP1572962.
CU678414 - Synthetic construct Homo sapiens gateway clone IMAGE:100020393 5' read LMNA mRNA.
CU677029 - Synthetic construct Homo sapiens gateway clone IMAGE:100023035 5' read LMNA mRNA.
LF352108 - JP 2014500723-A/159611: Polycomb-Associated Non-Coding RNAs.
LF352107 - JP 2014500723-A/159610: Polycomb-Associated Non-Coding RNAs.
LF352104 - JP 2014500723-A/159607: Polycomb-Associated Non-Coding RNAs.
LF352103 - JP 2014500723-A/159606: Polycomb-Associated Non-Coding RNAs.
DJ444898 - Combinatorial Methods and Compositions for Treatment of Melanoma.
CS027054 - Sequence 5 from Patent WO2005014837.
LF352102 - JP 2014500723-A/159605: Polycomb-Associated Non-Coding RNAs.
LF352101 - JP 2014500723-A/159604: Polycomb-Associated Non-Coding RNAs.
LF352100 - JP 2014500723-A/159603: Polycomb-Associated Non-Coding RNAs.
LF352099 - JP 2014500723-A/159602: Polycomb-Associated Non-Coding RNAs.
LF352098 - JP 2014500723-A/159601: Polycomb-Associated Non-Coding RNAs.
LF352096 - JP 2014500723-A/159599: Polycomb-Associated Non-Coding RNAs.
MA587687 - JP 2018138019-A/159613: Polycomb-Associated Non-Coding RNAs.
MA587686 - JP 2018138019-A/159612: Polycomb-Associated Non-Coding RNAs.
MA587685 - JP 2018138019-A/159611: Polycomb-Associated Non-Coding RNAs.
MA587684 - JP 2018138019-A/159610: Polycomb-Associated Non-Coding RNAs.
MA587681 - JP 2018138019-A/159607: Polycomb-Associated Non-Coding RNAs.
MA587680 - JP 2018138019-A/159606: Polycomb-Associated Non-Coding RNAs.
MA587679 - JP 2018138019-A/159605: Polycomb-Associated Non-Coding RNAs.
MA587678 - JP 2018138019-A/159604: Polycomb-Associated Non-Coding RNAs.
MA587677 - JP 2018138019-A/159603: Polycomb-Associated Non-Coding RNAs.
MA587676 - JP 2018138019-A/159602: Polycomb-Associated Non-Coding RNAs.
MA587675 - JP 2018138019-A/159601: Polycomb-Associated Non-Coding RNAs.
MA587673 - JP 2018138019-A/159599: Polycomb-Associated Non-Coding RNAs.
LF352095 - JP 2014500723-A/159598: Polycomb-Associated Non-Coding RNAs.
LF352094 - JP 2014500723-A/159597: Polycomb-Associated Non-Coding RNAs.
JD074993 - Sequence 56017 from Patent EP1572962.
LF352093 - JP 2014500723-A/159596: Polycomb-Associated Non-Coding RNAs.
JD481784 - Sequence 462808 from Patent EP1572962.
JD289541 - Sequence 270565 from Patent EP1572962.
JD411041 - Sequence 392065 from Patent EP1572962.
JD202775 - Sequence 183799 from Patent EP1572962.
JD053445 - Sequence 34469 from Patent EP1572962.
JD258627 - Sequence 239651 from Patent EP1572962.
JD341491 - Sequence 322515 from Patent EP1572962.
JD546412 - Sequence 527436 from Patent EP1572962.
JD398558 - Sequence 379582 from Patent EP1572962.
JD142086 - Sequence 123110 from Patent EP1572962.
JD475115 - Sequence 456139 from Patent EP1572962.
JD213406 - Sequence 194430 from Patent EP1572962.
JD229189 - Sequence 210213 from Patent EP1572962.
LF352092 - JP 2014500723-A/159595: Polycomb-Associated Non-Coding RNAs.
JD333132 - Sequence 314156 from Patent EP1572962.
JD498342 - Sequence 479366 from Patent EP1572962.
JD436019 - Sequence 417043 from Patent EP1572962.
JD042440 - Sequence 23464 from Patent EP1572962.
JD167931 - Sequence 148955 from Patent EP1572962.
LF352091 - JP 2014500723-A/159594: Polycomb-Associated Non-Coding RNAs.
JD247614 - Sequence 228638 from Patent EP1572962.
JD222395 - Sequence 203419 from Patent EP1572962.
JD481016 - Sequence 462040 from Patent EP1572962.
JD471485 - Sequence 452509 from Patent EP1572962.
JD320708 - Sequence 301732 from Patent EP1572962.
JD116150 - Sequence 97174 from Patent EP1572962.
JD099290 - Sequence 80314 from Patent EP1572962.
JD473221 - Sequence 454245 from Patent EP1572962.
JD155690 - Sequence 136714 from Patent EP1572962.
MA587672 - JP 2018138019-A/159598: Polycomb-Associated Non-Coding RNAs.
MA587671 - JP 2018138019-A/159597: Polycomb-Associated Non-Coding RNAs.
MA587670 - JP 2018138019-A/159596: Polycomb-Associated Non-Coding RNAs.
MA587669 - JP 2018138019-A/159595: Polycomb-Associated Non-Coding RNAs.
MA587668 - JP 2018138019-A/159594: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05412 - Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414 - Dilated cardiomyopathy

BioCarta from NCI Cancer Genome Anatomy Project
h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF
h_fasPathway - FAS signaling pathway ( CD95 )
h_caspasePathway - Caspase Cascade in Apoptosis
h_deathPathway - Induction of apoptosis through DR3 and DR4/5 Death Receptors
h_tnfr1Pathway - TNFR1 Signaling Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: AY357727, NM_005572, NP_005563, Q6UYC3, Q6UYC3_HUMAN, RP11-54H19.1-004, uc009wro.1
UCSC ID: uc009wro.2
RefSeq Accession: NM_005572
Protein: Q6UYC3

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene LMNA:
cmt (Charcot-Marie-Tooth Hereditary Neuropathy Overview)
dcm-lmna (LMNA-Related Dilated Cardiomyopathy)
dcm-ov (Dilated Cardiomyopathy Overview)
edmd (Emery-Dreifuss Muscular Dystrophy)
hgps (Hutchinson-Gilford Progeria Syndrome)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: AY357727.1
exon count: 12CDS single in 3' UTR: no RNA size: 2257
ORF size: 1845CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3887.00frame shift in genome: no % Coverage: 99.29
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 987# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.