LMNA Gene
protein-coding GIFtS : 71
GCID: GC01 P156053
lamin A/C (Previous names: cardiomyopathy, dilated 1A (autosomal dominant), limb girdle... ) (Previous symbols: LMN1, CMD1A, LGMD1B, PRO1, LMNL1 )
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Aliasesfor LMNA gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Lamin A/C 1 2 70 KDa Lamin2 LMN11 2 3 5 CDCD12 CMD1A1 2 5 CDDC2 HGPS1 2 5 CMT2B12 LGMD1B1 2 5 FPL2 LMNL11 2 FPLD22 PRO11 2 IDC2 Lamin A/C-Like 11 2 LDP12 EMD22 5 LFP2 FPLD2 5 LMNC2 Cardiomyopathy, Dilated 1A (Autosomal Dominant)1 Lamin1 Limb Girdle Muscular Dystrophy 1B (Autosomal Dominant)1 Prelamin-A/C1 Progeria 1 (Hutchinson-Gilford Type)1 Renal Carcinoma Antigen NY-REN-322
Export aliases for LMNA gene to outside databases Previous GC identifers: GC01P153921 GC01P151817 GC01P152830 GC01P153301 GC01P152897 GC01P154318 GC01P127446
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Summariesfor LMNA gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for LMNA : 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) UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545 Function : Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclearmembrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics Function : Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damagein vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence Gene Wiki entry for LMNA
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Genomic Viewsfor LMNA gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000001.10 NC_018912.1 NT_004487.19 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the LMNA gene promoter: STAT1 STAT1beta STAT1alpha Other transcription factors Search SABiosciences Chromatin IP Primers for LMNA Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat LMNA
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 1q22 Ensembl cytogenetic band: 1q22 HGNC cytogenetic band: 1q22 LMNA Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01P156053: view genomic region
(about GC identifiers )
Start:
156,052,364 bp from pter
End:
156,109,880 bp from pter
Size:
57,517 bases
Orientation:
plus strand
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Proteinsfor LMNA gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545 (See
protein sequence )Recommended Name: Prelamin-A/C precursor Size : 664 amino acids; 74139 Da
Subunit : Homodimer of lamin A and lamin C. Interacts with lamin-associated polypeptides IA, IB and TMPO-alpha, RB1 andwith emerin. Interacts with SREBF1, SREBF2, SUN2 and TMEM43 (By similarity). Proteolytically processed isoform A interacts with NARF. Interacts with SUN1. Prelamin-A/C interacts with EMD. Interacts with MLIP; may regulate MLIP localization to the nucleus envelope. Interacts with DMPK; may regulate nuclear envelope stability
Subcellular location : Nucleus. Nucleus envelope. Note=Farnesylation of prelamin-A/C facilitates nuclear envelopetargeting and subsequent cleaveage by ZMPSTE24/FACE1 to remove the farnesyl group produces mature lamin-A/C, which can then be inserted into the nuclear lamina. EMD is required for proper localization of non-farnesylated prelamin-A/C
Miscellaneous : There are three types of lamins in human cells: A, B, and C
Miscellaneous : The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by thedisintegration and formation of the nuclear envelope in prophase and telophase, respectively
Sequence caution : Sequence=CAA27173.1; Type=Frameshift; Positions=582;
6/8 PDB 3D structures from and Proteopedia for LMNA (see all 8 ):1IFR (3D)
  1IVT (3D)
  1X8Y (3D)
  2XV5 (3D)
  3GEF (3D)
  3V4Q (3D)
 
Secondary accessions : B4DI32 D3DVB0 E7EUI9 P02546 Q5TCJ2 Q5TCJ3 Q969I8 Q96JA2Alternative splicing : 4 isoforms : P02545-1 P02545-2 P02545-3 P02545-4 (No experimental confirmation available. Ref.3 (BAG58344) sequence is in conflict in position: 556:G->R)Explore the universe of human proteins at neXtProt for LMNA: NX_P02545 Post-translational modifications:
Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations1
Proteolytic cleavage of the C-terminal of 18 residues of prelamin-A/C results in the production of lamin-A/C. The prelamin-A/C maturation pathway includes farnesylation of CAAX motif, ZMPSTE24/FACE1 mediated cleavage of the last three amino acids, methylation of the C-terminal cysteine and endoproteolytic removal of the last 15 C-terminal amino acids. Proteolytic cleavage requires prior farnesylation and methylation, and absence of these blocks cleavage1
Sumoylation is necessary for the localization to the nuclear envelope1
Farnesylation of prelamin-A/C facilitates nuclear envelope targeting1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P02545 LMNA Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (4 alternative transcripts):
NP_001244303.1 NP_005563.1 NP_733821.1 NP_733822.1 ENSEMBL proteins: ENSP00000357284 ENSP00000357283 ENSP00000357282 ENSP00000395597 ENSP00000424518 ENSP00000357280 ENSP00000426535 ENSP00000421821 ENSP00000424977 ENSP00000292304 ENSP00000355292 ENSP00000376164 Reactome Protein details: P02545 Human Recombinant Protein Products: Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10 ): About this table
LMNA for ontologies About GeneDecksing LMNA Antibody Products: Assay Products for LMNA:
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Protein
Domains / Familiesfor LMNA gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
LMNA for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P02545 ProtoNet protein and cluster: P02545
2 Blocks protein families : IPB001322 Intermediate filament IPB001664 Intermediate filament protein UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545 Similarity : Belongs to the intermediate filament family
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Functionfor LMNA gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545 Function : Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclearmembrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics Function : Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damagein vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence
Genatlas biochemistry entry for LMNA : lamin,types A and C,common gene,alternatively spliced isoforms Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for LMNA (see all 7 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for LMNA (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): LMNA (NM_170707 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for LMNA Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat LMNA
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNA
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view) : About this table
LMNA for ontologies About GeneDecksing 3 GenomeRNAi human phenotypes for LMNA :Animal Models: Mouse knock-outs for LMNA: Lmna tm6Lgf Lmna tm1Stw Lmna tm4Lgf Lmna tm5Lgf Lmna tm1Lgf Lmna tm2Lgf 15/25 MGI mutant phenotypes (inferred from 16 alleles ) (MGI details for Lmna) (see all 25 ):
LMNA for phenotypes About GeneDecksing
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Pathways & Interactionsfor LMNA gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/20 super-pathways (see all 20 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Apoptosis and survival_Caspase cascade 2 Clearance of Nuclear Envelope Membranes from Chromatin 3 M Phase 4 Meiotic Synapsis 5 Activation of Chaperone Genes by XBP1(S)
Pathway sources See GeneCards unified pathways Show all pathways 2 EMD Millipore Pathways for LMNA 3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LMNA 3
Cell Signaling Technology (CST) Pathways for LMNA 2 GeneGo (Thomson Reuters) Pathways for LMNA 4 BioSystems Pathways for LMNA 5/24
Reactome Pathways for LMNA (see all 24 )1 PharmGKB Pathway for LMNA 3
Kegg Pathways (Kegg details for LMNA) :
LMNA for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LMNA STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/921 Interacting proteins for LMNA (P02545 1 , 2 , 3 ENSP00000357283 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 921 )About this table Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0006915 apoptotic process
TAS -- GO:0006921 cellular component disassembly involved in execution phase of apoptosis
TAS -- GO:0006987 activation of signaling protein activity involved in unfolded protein response
TAS -- GO:0006997 nucleus organization
-- -- GO:0006998 nuclear envelope organization
IEA --
LMNA for ontologies About GeneDecksing
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Drugs & Compoundsfor LMNA gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
LMNA for compounds About GeneDecksing Browse Tocris compounds for LMNA 10/18 Novoseek chemical compound relationships for LMNA gene (see all 18 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
nelfinavir
23.7
2
14600514 (1), 18344876 (1)
rosiglitazone
18
2
14510863 (2)
indinavir
17.1
4
14600514 (1), 16184025 (1), 12844477 (1)
zinc
14.2
12
16278265 (1), 19494770 (1), 19323649 (1), 15998779 (1) (see all 7 )
retinoic acid
12.4
18
15219855 (3), 10694499 (3), 12844477 (2), 11478838 (1) (see all 8 )
deoxyribonucleic acid
6.22
1
12015247 (1)
calcium
0.975
2
1467310 (1), 19144047 (1)
cholesterol
0
4
11136544 (1), 12524233 (1), 17994215 (1), 15205219 (1)
atp
0
6
1965140 (2), 15892163 (1), 2004657 (1)
lipid
0
3
20130076 (2), 16181372 (1)
Search CenterWatch for drugs/clinical trials and news about LMNA
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Transcriptsfor LMNA gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for LMNA gene (4 alternative transcripts): NM_001257374.1 NM_005572.3 NM_170707.3 NM_170708.3 Unigene Cluster for LMNA:
Lamin A/C Hs.594444 [show with all ESTs ] Unigene Representative Sequence: NM_170707 18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26 ): ENST00000502751 ENST00000368301 (uc001fnf.1 ) ENST00000495341 ENST00000470835 ENST00000515711 ENST00000368300 (uc001fng.2 uc001fni.2 uc009wro.1 uc001fnk.2 )ENST00000470199 ENST00000478063 ENST00000469565 ENST00000368299 ENST00000502357 ENST00000448611 (uc010pgz.1 ) ENST00000515459 ENST00000368297 ENST00000504687 ENST00000473598 ENST00000515824 ENST00000496738 (uc001fnj.2 uc010pha.1 )Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for LMNA (see all 7 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for LMNA (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): LMNA (NM_170707 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for LMNA Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat LMNA
Additional cDNA sequence: AF381029.1 AK026584.1 AK056143.1 AK056191.1 AK057997.1 AK097801.1 AK098128.1 AK122732.1 AK130179.1 AK294217.1 AK295390.1 AK309539.1 AY357727.1 AY528714.1 AY847595.1 AY847596.1 AY847597.1 BC000511.2 BC003162.1 BC014507.1 BC018863.2 BC033088.1 M13451.1 M13452.1 NR_047544.1 NR_047545.1 X03444.1 X03445.1
24/79 DOTS entries (see all 79 ): DT.100891747 DT.91871177
DT.92469899 DT.95246279 DT.100891714 DT.95294580 DT.100891710 DT.121347135 DT.100891740 DT.92469913 DT.100891733 DT.92057489 DT.101986435 DT.121347131 DT.121347084 DT.100891726 DT.95322263 DT.99987681 DT.121347143 DT.121347120 DT.100891698 DT.100039687 DT.100891751 DT.320389 1597 AceView cDNA sequences (see top 24 ):
BG260177 CA395830 CA423881 CB528890 CB138659 BE408991 W23629 BU542321 AU139796 BE336696 CA406353 CA841908 BU174781 CB130594 AI219557 BQ686823 BE902429 BM795146 BE885040 BE273844 BQ431561 CB152958 CD367718 BQ933009 AW081821 BG829463 BM471750 BQ881616 BE384308 BQ672706 BQ684037 AF381029 CR598617 AL701184 BU195500 BQ958754 BU838224 AW262857 CA420950 BI964222 CB216124 CR622626 BM786322 BM837113 CR600170 BU543235 BU163354 BU194876 BM560647 CF132166 AA526188 BM759463 CA488198 BQ686442 BF984822 CA436010 BM913668 BQ962417 BQ949807 BQ879747 BE385948 BM824153 BM992900 BM991542 AY357727 BE277289 BQ189121 BM998141 BE277255 AI203290 CR619146 AI184300 BG330158 BE271717 BM791141 BQ878386 AI129393 BQ943551 BU194709 AL527048 BE731167 BG831209 AI654262 BM908250 CB108774 BI861477 BQ892281 CB126469 BM724447 AI417383 CB124212 BQ233872 BQ929963 BU956429 CF131339 BM796577 NM_005572 CA454200 BU177195 CF132672 BQ949985 BM560522 BQ948016 BE394808 BM838020 AW273189 BM763030 CB132173 BQ962961 CD674183 BM694915 BM698878 CR604156 BM829434 BU628579 BG753420 BQ689110 BQ920800 CR626536 BQ670150 BM855193 AK130179 AI834323 CF132284 BU184734 BU845157 BC003162 BQ681589 BM836602 BQ927101 CA405830 BM467971 BU616462 AL534588 AL515889 T27614 AA569105 AI679597 CR605674 BQ933420 BE385996 NM_170708 BM725276 BI770050 BU528164 BQ650325 BM988801 BF725411 BM907256 BQ428464 BU857695 BX387276 BX406132 BC000511 BC018863 BQ887524 BM781806 BQ899088 BM836839 BE745889 BU952662 BU150107 CB140636 AU120748 BU190818 BQ433650 BF970433 BU624065 BE394840 BM828159 BM829550 CA397702 BQ233157 BQ927391 CD672793 BM826021 CD515351 BM760150 CA488152 BQ428078 CB135269 AK122732 BG255527 BQ934954 CB130289 BE732919 BI908577 BE748144 BQ440799 BQ932930 BQ683291 AU134139 BQ688714 BQ219808 BM828139 BQ945294 CF125977 BI963905 CR623720 BQ688734 BU528574 CB123672 R54621 CR620993 BU190315 BE550222 R74022 BE563498 BU624859 H02237 BM795614 BG753260 BG749019 BQ933560 BM837263 BM785968 BM830530 BX445332 BU541082 BU180391 BE891004 BQ934324 NM_170707 BM563534 BQ954261 BU158062 BE388000 BQ689334 AI446447 BI822606 BG774265 BQ777189 BQ952116 BG323982 AK097801 BQ068654 AK056191 CR619166 BE739890 CB136735 AL543932 CF132636 CD364753 BM763673 CB124011 BQ933372 CA389373 BM836892 CA396080 CA432112 F29440 BU626255 BQ683095 AK098128 CD368143 BU166920 CB150408 BQ935634 BQ689912 BE311540 CB152954 AI889491 CB124946 CD172220 BU751814 BE613729 CR603908 BM819880 BQ898109 BI835620 CD516607 BM980869 BQ925263 CB128404 CA407855 AA374074 BQ711771 BQ933470 BQ674247 BM710596 AU134860 BQ932553 BG059624 BU155880 BM786338 BQ215790 BQ883374 BU149036 BU528517 CA422162 BQ881063 BE742154 BU855257 BI908804 BQ686108 BU178121 CK000151 AL549782 AL602697 BE741126 BQ212079 BQ576269 T75500 BP871073 AL552639 BQ689357 AI087023 AI084018 BQ647460 BU943871 CA843032 BQ677957 BM759568 BM795382 BU527728 CD674047 BQ653662 BM551760 BQ878384 BQ940951 BE262618 BQ225298 CD674046 AW245428 AI674212 BU527683 CB114427 AI440199 BQ225951 CA439573 H13874 BM726202 BC014507 BQ948097 AI497918 AA400974 BQ689214 BQ651845 BE383355 AI678682 BU734409 D52428 BQ219558 BQ575529 BF220083 AI660822 AU130227 BM837075 CA312066 BX446735 BM738523 AL547147 BF344015 BE878245 BI258282 BE258158 BI161336 BM790954 BG751672 BQ883824 BQ691671 CO249777 CD243124 BE747241 AL121004 BM044996 R23628 BM549207 BF195650 BQ672651 CN480537 BE884805 AI160452 BM673415 BQ574327 AL552807 BQ956330 BM828731 BG471885 BU752027 BM751510 BI762355 BE875245 BG983190 CD109869 BG179703 R70195 BG326104 BF026990 AK057997 CB529720 BG419672 AW009778 BE894830 AL578163 BE208049 BU527956 M13452 BM045699 CB160302 CD364969 BU535419 BU190484 BG475711 CF131722 BF971675 BX431718 AL542279 BI523733 BG254166 BQ945712 BG332511 BG422905 AW261861 BG697410 BQ957104 BE293149 BQ774420 C02919 BU168573 BF684815 BG327047 BQ957768 BQ674014 CD110032 BE378649 AL523901 CA405735 CB147125 BM049294 BQ016572 BG769289 CB991626 BG324908 BG752668 BQ722541 BG421218 CD620845 BQ922458 BE389011 AU135513 BI196746 BM826422 BU161741 BG747163 BM925876 BX363096 BG761401 AL518509 BG747681 CF132488 BG760871 BE563602 BG437494 BG028989 AL572643 BG490935 BU856149 BF971926 BE873717 CF132413 BG285874 BQ380651 BQ690342 BG675574 BG326189 BF315448 BM011159 CD367371 BU628745 BQ883991 BG761416 BM837840 BE409161 BF109764 BE615177 BI757824 CB068026 BF182890 BI860099 BG574083 AA923529 AA284719 AI621195 CA435633 BQ686473 CB178046 BG831124 CA775841 BX438733 BG420321 CB139571 BE869491 AI701956 BM787271 BG824058 CB149700 AW337161 BQ073422 AI911853 BQ939435 CA439106 BQ717327 BQ948165 BE904182 BU686339 BG485706 BG437389 BG338007 BQ691083 BG824642 BM708709 BQ684741 BQ644045 BG762032 BE906251 BG291103 BG121589 BG829459 BM969918 BQ677941 BU553733 AL545550 BU501368 BM757284 BG420208 BG831768 CA843788 BM827929 BQ927100 AI365669 BQ681591 BG740834 BQ446060 BE735784 BE879196 AA295223 BG331020 BX417896 BG769923 BG423813 BU848633 BG830718 BQ677261 BU687230 BU685425 BG829872 BI869499 BM834841 AW732517 BM830579 BU527692 X03445 BI518325 BG121757 BI335070 BI084425 BF313290 CA443891 BG771075 BQ890187 BG766180 BQ220110 CD251075 CB991781 BQ923760 CB125633 BU186042 AI660248 BF315977 C06377 BU168440 BQ653894 CD365197 BI561605 BG331089 BG760704 BM042986 BG331943 BG478720 BQ685949 BU741700 BQ685002 BQ644427 BE727131 BU732343 AL544580 AL573845 BQ679672 BE741601 BG769301 AA295817 CF594258 BM979204 BE910646 AL531078 AW613798 BM797110 BE302861 BM739063 BG036147 BG831153 CO247666 AW002334 CB528799 BI011278 BQ686202 AU155238 AL570318 BU541965 CN484185 BG281238 AL046826 BF570218 CF131250 BE741154 BG283068 BE393013 BG762902 AA369645 AK056143 CB113555 AL556469 BQ651611 AU141882 X03444 BF346269 BM794449 BI117461 BE313539 BG701671 BI457328 M13451 BF032323 CD620856 AA378253 AU133803 BE743136 BI517605 AI080023 BE895174 BM839587 BQ015921 BG747466 BG679159 BU543896 BG822592 BE544170 BQ955869 AI273432 BM980305 BU500850 T81571 BQ677887 BG769043 BM677718 BQ005576 BM914475 BQ691807 CB125711 CA426153 BE735390 BQ644297 BM046745 BQ019800 BQ688359 BM836898 BG778930 BE408471 BC033088 CB960729 BU527169 BU687241 BI160530 AW069622 CD620852 BG330864 BG476664 BG118830 BM836975 BG033408 BM715431 AI803823 CA421611 CB124219 BI561331 AA128688 BQ688263 BQ019712 BF686540 BM830050 AL554772 BU500137 BG325266 AA594368 BQ939969 BM083787 BG765359 BG469842 BM794989 BI199297 CB124660 BG768469 BE732517 BG753208 BP381495 CB993013 BE514928 BE206167 N20553 BG830928 BU167392 BQ688085 CN480332 BX324460 BQ101136 BG030924 BI837827 BI196114 BQ020354 BE746752 BG252839 BU180120 BQ691870 BG478639 BG420234 BG763391 BE313578 BF237579 CA436127 BG763878 BQ644692 BI333937 BG765753 CB137384 AU134390 BQ644678 BG339769 BU682915 BI195851 BM836974 AI628530 BM552469 BQ648990 AI127934 BG576355 BU174269 CB242469 AA149923 CB988470 BG032016 BQ669204 BE384082 BG385672 AA977422 CB044372 AI141801 BG339166 BI257379 AU076972 AA587475 BE869002 BG424394 CA406573 BU543021 BE901291 BQ959607 BQ004604 AI351076 BG709343 BI256920 BE382597 BE880395 BM468449 BG762386 BM796899 CB959646 BQ954730 CB529541 BX483921 AL551236 AI811966 BQ719211 BG823726 BG489943 CB140341 BU196343 BG764701 BX439157 BF685734 BG114602 BU743029 BF195056 AA777180 BQ654047 CF132303 BG775502 BF569243 BU168886 BM983786 BG821153 CB132076 CD620848 BE741891 BQ877795 BG679422 AL571219 BF035195 BF684740 BQ929642 BQ690743 AA316324 BG822844 BX339588 BQ901151 BQ923306 CA394278 BG763795 AW178695 BG421115 BE748559 AL602320 BV183364 BM849796 BG753234 BF340092 BQ424735 AI610595 AI128506 BQ683129 AA371687 AL547846 AA813351 BG770718 BQ230223 BG119733 BI091194 BF339124 BQ678303 BQ575684 AL555723 AW276349 BG386274 BF312035 BU553893 AI803888 BQ938571 BI836090 BQ689345 BU542826 BQ685344 BG330751 BG248222 BG718639 BI160620 BG767841 BU159070 BU168871 AL526129 AL522201 BQ928695 BQ654338 AI911694 BG768657 AI149988 BQ100835 BE563153 CB989750 BE279371 BE326686 BG765110 BG770312 AI608872 AW238797 BM790409 AL524230 BE272747 BE747280 BM809201 BQ957405 BE379165 BX374150 BU191356 BE743559 BU541228 BU839194 BE391086 BG327955 BQ671126 BI836040 BE875339 BM046936 BG325464 BQ643825 BX324458 BU162545 BM903701 BG325782 CB148668 BG821602 AW192659 BG058732 AI139122 BI488568 BG775098 BE278241 BG765761 BM714386 BQ962919 BM979501 CB142415 CB110972 BU150249 BE745967 AI570879 BG325483 BU177151 BG715914 BG749818 AL563933 BM452159 BU151484 BI828827 BI670148 BG482493 BM046205 CB266803 AI887656 CA307468 BM045634 BM837520 AI283337 BQ668508 BM811334 CB269177 BE613565 AL578718 CA424001 BG822820 BU160013 BQ926244 AV706952 AK026584 BG423931 BF684539 AA534337 AI972489 BM916889 AL523449 BE877967 AL549051 BQ778291 CB126191 BM752487 BM756617 BE747580 CB044373 BI093632 BE543659 D55092 BQ948014 BE392380 AA360945 BE301840 BM836695 AA308619 AW080595 BI457568 BI764681 BG766968 BM786304 CB854404 AA158615 AL044139 BG336698 BM982364 AU155680 BM838040 BM794411 AI002109 BI258988 BE907248 BG422962 BU166286 BI858736 BG715859 BM453529 BU624914 BF338396 BG748282 BE279601 BU189649 AL516552 BF125344 CA395877 CA426216 CN481523 BG167665 BU191229 BU628628 BM854120 BG761146 AA961132 AI143136 BM051110 BU168332 BG751005 BF568266 BG480676 BX402657 BG059842 BE315456 BM042309 BI005413 BG821491 H28203 BQ690734 CB992188 BU541062 BG769111 BF688357 AA063576 BG721158 BQ073404 BM313273 BI914614 BG762113 BU072027 BF125608 AI962000 BM044320 AI920930 BI254492 AI367579 BI195287 T48331 BX332013 BU539493 CB126194 BM152459 BG395233 CA406131 BM047823 AA604635 BG681083 T54841 BE221253 AA165697 AI768259 W47417 BE728293 AL522200 AA476846 AU147255 AI002393 BI548804 H26367 CD620851 BQ007896 AW008070 AI569069 BG473943 AU280539 BQ687599 BG422657 BQ888614 CD172519 N93385 BM828722 BG425291 BE271380 AA558592 BQ940222 AA961563 AA622917 BE311748 AL529583 H75789 BQ424221 AI689407 AU156089 BE378614 AU144613 R54732 AI752735 AI742283 N92467 BE391554 BG681960 BG770479 BM969323 BM790469 BM091017 BX324457 AI383099 BE615359 AA009972 CB243655 AI752311 BE391130 BG722919 BM751262 AV727946 BX445331 AI750943 R70345 AA314170 BE622171 BU731721 BG831948 BE391595 AL562619 AI932904 AA375663 BG722926 BX472851 AI752112 BF688836 BX358628 AI983927 BF126034 BG339598 AI865851 AL562800 BE728316 AA897393 BE731391 CB988601 CF141899 BF934896 AU127276 BX324459 AW068718 BU145839 AA149990 AL562283 AW768658 AI799623 CD620846 BQ888598 BF027607 BE385883 AA552369 AU155563 BE272594 BI834953 BQ231547 BU539276 AI859525 BM797867 BQ942305 AA330127 BP432197 AI078093 AW195724 BX457581 BX339306 AA160013 AA132691 BG775698 AI874369 N34785 AI620814 BF718703 BG764524 BQ673779 AV706605 BF026811 AA157840 BX353228 AL547111 BE616110 BM042425 BE278685 BE794372 AA113797 AA662074 AA506148 AL522880 CA943166 H13831 BI192854 BM017883 BF933395 H67894 BQ936597 BG335605 AL516551 BM685365 N69363 AI689049 BF569754 AW001321 BG761813 BE563156 N24964 AW732434 AW025435 AL522881 BG474370 BI161044 BG334791 AW274619 R79543 BF343415 AA878443 CB148906 AI302749 CB149165 AA553831 AW513792 AI686713 BM718590 BG252662 AU154997 CA417412 T81986 CA435612 BG339062 W92262 AA042919 BM669664 BG760884 BG280950 CD620858 BF344104 CA776056 AA862024 BG829954 BM819595 BG399090 BE247446 AL577420 BG281670 BQ677709 BQ927617 BQ878187 BG724241 CB149358 BU731900 BM821790 BG118970 BI012272 BU166961 BI457571 AA496997 BE563350 BG058668 BG911567 CB137628 H44572 BG280875 BE736864 BE388403 BI195349 AI968643 BE886307 AI570910 AI445377 BG761832 AW732435 BE910562 AA076386 AI914733 AA828222 BF760521 BE788623 R47924 BM048195 BQ073767 AW082754 BU177828 BG250864 BI818292 BE410725 BM923095 BE388429 BE390415 BU540666 R70346 H27754 CD620840 W35219 AW245786 AW339207 CA868207 AA009971 AI239414 BG489801 BQ232906 AA853575 AI814696 BI911119 D11851 AL575869 AW630015 BU529070 BM091322 BQ015908 AA156574 AI834329 AU154857 BI561802 BE614959 AI872233 AI813616 AA160300 AA011039 AA971500 H94408 AA284896 BE301243 AA554695 BI005411 BI010447 AI587237 BM050583 AL523448 AA011106 BM910093 AA052896 AA617648 AA977289 BG682614 AI039427 BM755705 BU620289 BG118358 AU146056 BE615331 AA662108 BG118250 AL515888 AA709266 AU158825 AL530808 BG339490 CA487725 BG569951 AA158307 AA599490 BF921574 AA633170 AU155092 D55055 BM854442 BM013736 BE272774 BX363438 BU950894 BM836936 T80894 AA630395 H27813 BM836955 T86435 BQ721175 BI042520 AU159099 BE300536 AU144430 BG475449 AA578831 H94316 BE278077 R70196 BU157091 BG437951 BG331255 AA079780 BM791818 BG622189 BE868068 BM837740 BE262912 BG423592 BI160790 AA633173 BQ962207 AI023845 CB132124 AA042907 W73498 BX351462 BE387523 BP873526 AA158419 BI906271 AW188455 BG938688 AA158024 BM755516 BX344864 BQ678076 CB125684 W47612 BM809185 AA079752 AW950189 BI869975 AI635790 BF132595 BF476008 BX336354 AU148271 R69429 R70356 BI524593 AA157108 AU144386 AU147517 AW197992 BE736552 AI254230 F34553 AI189413 AA535854 AI200474 AW303859 AL529582 AA057544 AA160236 AL530807 R55455 BG119605 AA160361 AA158420 AU159433 AA595926 R79542 AI802580 AI972393 AA523096 AU148092 R50544 T68743 AA158616 H22218 N29265 BF350417 H28249 AI627213 CD365536 BG762812 AA632393 R70355 AL574874 T80823 BX360887 T75547 AI126259 AA160091 BG822443 BE271599 AA076538 BI159839 BQ675976 BE388037 AA397856 BU188357 T29540 AU158982 AI498237 BG315015 H44571 CD245072 AL562322 BU732422 AL047709 AI683440 BX494181 BE868447 BX360403 BQ929000 CF131321 BQ940453 AA837841 AU145732 BU553618 AL542278 AA838130 AA059450 AA035706 AI571606 BQ892729 BX342399 BE878227 AA729809 BE734979 AA114114 AW304365 AU147605 AA329547 AA128502 AA489582 CA842206 BG123007 AU147366 T55218 BE391922 AU147867 BI457534 R74021 CD620838 AA307416 AI814093 AA158524 BE296200 AI962044 AW450106 BU173578 AA968781 AI972217 BG682593 R54884 AA771920 BG747558 BI868896 AA605150 BE149587 R48032 BG326581 AI191123 BQ952634 BF679852 R88141 BF884684 BF887070 AI869188 CB995432 R62804 AL518508 AU146648 BQ359465 BI045975 AI090900 W16593 AU145481 BQ957612 BQ878436 AI934224 AI352377 BF848800 BQ682860 AI192456 AA157897 T68810 BG681973 H75788 AA158412 AA578820 AL570656 BI005405 BG326598 BM313214 AL573392 BU185718 T48330 AA852297 BU185349 AA565233 CO245329 H67939 BQ327212 AU152381 H22169 BF435939 CD620843 BF835771 BE966291 AI951206 BM046285 AI699001 AA132784 AA723126 R50641 AL575981 AA662257 N91391 BG489887 BU509576 BM790471 BG151520 BI085034 T86524 BU509599 BF343098 BE967003 AL565579 BG775784 R62854 CA868441 BF570477 BQ073505 BG436809 AA401138 AA150322 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for LMNA About this scheme ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c SP1 :               -             -             SP2 :               -             -     -         SP3 :               -                         SP4 :                                      
ECgene alternative splicing isoforms for LMNA
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Expression for LMNA gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section LMNA expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GGAGGGGGCT
About this image LMNA expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See LMNA Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for LMNA SOURCE GeneReport for Unigene cluster: Hs.594444 UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545 Tissue specificity : In the arteries, prelamin-A/C accumulation is not observed in young healthy vessels but isprevalent in medial vascular smooth muscle cells (VSMCs) from aged individuals and in atherosclerotic lesions, where it often colocalizes with senescent and degenerate VSMCs. Prelamin-A/C expression increases with age and disease. In normal aging, the accumulation of prelamin-A/C is caused in part by the down-regulation of ZMPSTE24/FACE1 in response to oxidative stress SABiosciences Expression via Pathway-Focused PCR Arrays including LMNA : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for LMNABrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat LMNA QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat LMNA QIAGEN QuantiFast Probe-based Assays in human , mouse , rat LMNA In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNA
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Orthologsfor LMNA gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for LMNA gene from 4/19 species (see all 19 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
lizard (Anolis carolinensis)
Reptilia
----
--
73(a) 55(a)
1 ↔ many1 ↔ many
GL344336.1(8415-20568) 2(41214999-41216574)
African clawed frog (Xenopus laevis)
Amphibia
lmna-A2
lamin A/C
76.67(n)
 
X06345.1
zebrafish (Danio rerio)
Actinopterygii
lmna2
lamin A
76.11(n)
 
195815 AF397016.1
fruit fly (Drosophila melanogaster)
Insecta
LamC3
nuclear envelope reassembly
37(a) (best of 2)
 
51B1 --
ENSEMBL Gene Tree for LMNA (if available)TreeFam Gene Tree for LMNA (if available)
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Paralogsfor LMNA gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for LMNA gene LMNB1 2 SYNM 2 VIM 2 INA 2 NES 2 PRPH 2 DES 2 NEFM 2 LMNB2 2 NEFH 2 GFAP 2 5 SIMAP similar genes for LMNA using alignment to 9 protein entries: LMNA_HUMAN (see all proteins ):LMNB1 LMNB2 VIM KRT5 keratin
LMNA for paralogs About GeneDecksing
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Genomic Variantsfor LMNA gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 1 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for LMNA (156052364 - 156109880 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for LMNA: -- Human Gene Mutation Database (HGMD) : LMNA Locus Specific Mutation Databases (LSDB): LMNA SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing LMNA
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Disorders
/ Diseasesfor LMNA gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
LMNA for disorders About GeneDecksing OMIM gene information: 150330 OMIM disorders : 181350 115200 151660 605588 159001 248370 176670 275210 610140 UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545
Defects in LMNA are the cause of Emery-Dreifuss muscular dystrophy type 2, autosomal dominant (EDMD2) [MIM:181350]. A degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects Defects in LMNA are the cause of Emery-Dreifuss muscular dystrophy type 3, autosomal recessive (EDMD3) [MIM:181350] Defects in LMNA are the cause of cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death Defects in LMNA are the cause of familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]; also known as familial partial lipodystrophy Dunnigan type. A disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol Defects in LMNA are the cause of limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001]. LGMD1B is an autosomal dominant degenerative myopathy with age-related atrioventricular cardiac conduction disturbances, dilated cardiomyopathy, and the absence of early contractures. LGMD1B is characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes Defects in LMNA are the cause of Charcot-Marie-Tooth disease type 2B1 (CMT2B1) [MIM:605588]. CMT2B1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2B1 inheritance is autosomal recessive Defects in LMNA are the cause of Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]. HGPS is a rare genetic disorder characterized by features reminiscent of marked premature aging. Note=HGPS is caused by the toxic accumulation of a mutant form of lamin-A/C. This mutant protein, called progerin, acts to deregulate mitosis and DNA damage signaling, leading to premature cell death and senescence. Progerin lacks the conserved ZMPSTE24/FACE1 cleavage site and therefore remains permanently farnesylated. Thus, although it can enter the nucleus and associate with the nuclear envelope, it cannot incorporate normally into the nuclear lamina Defects in LMNA are the cause of cardiomyopathy dilated with hypergonadotropic hypogonadism (CMDHH) [MIM:212112]. A disorder characterized by the association of genital anomalies, hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients can present other variable clinical manifestations including mental retardation, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia Defects in LMNA are the cause of mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]. A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroide appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased Defects in LMNA are a cause of lethal tight skin contracture syndrome (LTSCS) [MIM:275210]; also known as restrictive dermopathy (RD). Lethal tight skin contracture syndrome is a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance Defects in LMNA are the cause of heart-hand syndrome Slovenian type (HHS-Slovenian) [MIM:610140]. Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations Defects in LMNA are the cause of muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]. It is a form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures 20/126 diseases for LMNA (see all 126 ): About MalaCards limb-girdle muscular dystrophy emery-dreifuss muscular dystrophy charcot-marie-tooth disease muscular dystrophy progeria charcot-marie-tooth disease type 2b1 charcot-marie-tooth disease type 2 emery-dreifuss muscular dystrophy, ar emery-dreifuss muscular dystrophy, ad pelger-huet anomaly cardiomyopathy familial partial lipodystrophy dilated cardiomyopathy charcot-marie-tooth neuropathy heart-hand syndrome, slovenian type proximal spinal muscular atrophy lipodystrophy tooth disease charcot-marie-tooth neuropathy type 2 restrictive dermopathy 9 diseases from the University of Copenhagen DISEASES database for LMNA :Progeria Lipodystrophy Dilated cardiomyopathy Myopathy Neuropathy Congenital heart block Werner syndrome Acanthosis nigricans Genetic disorder 10/73 Novoseek disease relationships for LMNA gene (see all 73 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
lipodystrophy, familial partial
97.8
88
12015247 (3), 11397881 (2), 18364375 (2), 19622949 (2) (see all 63 )
progeria
97
77
15479179 (2), 17076270 (2), 16671095 (2), 17469202 (2) (see all 59 )
muscular dystrophy emery-dreifuss
96.5
48
19589462 (2), 16697197 (2), 12685553 (1), 20225280 (1) (see all 41 )
emery-dreifuss muscular dystrophy, autosomal dominant
96.4
21
11532159 (1), 10587585 (1), 11102973 (1), 15639119 (1) (see all 19 )
lgmd1b
95.4
28
10814726 (4), 15678000 (3), 19070492 (2), 15668447 (1) (see all 15 )
mandibuloacral dysplasia
95.3
25
16278265 (2), 16046620 (1), 16364671 (1), 15843404 (1) (see all 16 )
partial lipodystrophy
93.2
32
15817509 (1), 11102973 (1), 12524233 (1), 15773753 (1) (see all 26 )
lipodystrophy
90
59
18077842 (3), 11078466 (2), 12788894 (2), 12844477 (2) (see all 37 )
acroosteolysis
86.4
4
16278265 (1), 17848409 (1), 18554282 (1)
lipodystrophy, congenital generalized
85.4
4
19169477 (1), 19494770 (1), 14516935 (1)
GeneTests: LMNA Charcot-Marie-Tooth Neuropathy Type 2 Emery-Dreifuss Muscular Dystrophy LMNA-Related Dilated Cardiomyopathy Hutchinson-Gilford Progeria Dilated Cardiomyopathy Genetic Association Database (GAD): LMNA Human Genome Epidemiology (HuGE) Navigator: LMNA (37 documents) Export disorders for LMNA gene to outside databases
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Publicationsfor LMNA gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for LMNA gene, integrated from 9 sources (see all 763 ): (articles sorted by number of sources associating them with LMNA) Utopia : connect your pdf to the dynamic world of online information
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. (PubMed id 12920062) 1 , 2 , 4, 9 Sebillon P.... Komajda M. (2003) Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. (PubMed id 15219508) 1 , 2 , 4, 9 Hermida-Prieto M....Crespo-Leiro M. (2004) LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). (PubMed id 12768443) 1 , 2 , 9 Cao H. and Hegele R.A. (2003) Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. (PubMed id 11897440) 1 , 2 , 9 Arbustini E....Tavazzi L. (2002) Variation in the lamin A/C gene: associations with metabolic syndrome. (PubMed id 15205219) 1 , 4, 9 Steinle N.I....Shuldiner A.R. (2004) LMNA mutations in atypical Werner's syndrome. (PubMed id 12927431) 1 , 2 , 9 Chen L.... Oshima J. (2003) Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. (PubMed id 12628721) 1 , 2 , 9 Taylor M.R.G.... Mestroni L. (2003) Novel and recurrent mutations in lamin A/C in patients with Emery- Dreifuss muscular dystrophy. (PubMed id 11503164) 1 , 2 , 9 Brown C.A.... Spence J.E. (2001) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. (PubMed id 10655060) 1 , 2 , 9 Shackleton S.... Trembath R.C. (2000) Collagen expression in fibroblasts with a novel LMNA mutation. (PubMed id 17150192) 1 , 2 , 9 Nguyen D....Oshima J. (2007)
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(According to
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Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Specialized Databases showing LMNA gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for LMNA Pharmacogenomics, SNPs, Pathways LEIDEN Muscular Dystrophy page for LMNA Scientfic Information about Duchenne and Duchenne-like muscular dystrophies . Human Intermediate Filament Mutation Database http://www.interfil.org GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LMNA
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About This Section Patent Information for LMNA gene: Search GeneIP for patents involving LMNA GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor LMNA gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for LMNA OriGene shRNA RFP for LMNA OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for LMNA OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for LMNA OriGene Protein Over-expression Lysate for LMNA Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for LMNA OriGene 3'-UTR Clone for LMNA OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for LMNA OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for LMNA Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for LMNA OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for LMNA OriGene Custom Protein Services for LMNA OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat LMNA QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing LMNA QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat LMNA QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat LMNA QIAGEN QuantiFast Probe-based Assays in human , mouse , rat LMNA QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat LMNA
Antibodies & Assays for LMNA   (lamin A/C)
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LMNA Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNA
ThermoFisher Antibody for LMNA
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat LMNA
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