Human Gene LMNA (uc009wrp.3) Description and Page Index
  Description: Homo sapiens lamin A/C (LMNA), transcript variant 5, non-coding RNA.
Transcript (Including UTRs)
   Position: hg19 chr1:156,104,904-156,107,058 Size: 2,155 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr1:156,104,985-156,106,231 Size: 1,247 Coding Exon Count: 3 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathways
Other NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:156,104,904-156,107,058)mRNA (may differ from genome)Protein (188 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneCardsH-INV
HGNCLynxMGIPubMedStanford SOURCETreefam
Wikipedia

-  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 -12.8081-0.158 Picture PostScript Text
3' UTR -339.10827-0.410 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.

-  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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  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.
CU677029 - Synthetic construct Homo sapiens gateway clone IMAGE:100023035 5' read LMNA mRNA.
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.
LF352097 - JP 2014500723-A/159600: Polycomb-Associated Non-Coding RNAs.
LF352096 - JP 2014500723-A/159599: 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.
MA587674 - JP 2018138019-A/159600: 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.
MA587672 - JP 2018138019-A/159598: 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: AK309539
UCSC ID: uc009wrp.3
RefSeq Accession: NR_047545

-  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: AK309539.1
exon count: 3CDS single in 3' UTR: no RNA size: 1475
ORF size: 567CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 1028.00frame shift in genome: no % Coverage: 100.00
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: 905# 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.