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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LMNA Gene

protein-coding GIFtS: 71
GCID: GC01P156053

lamin A/C

(Previous names: cardiomyopathy, dilated 1A (autosomal dominant), limb girdle...)
(Previous symbols: LMN1, CMD1A, LGMD1B, PRO1, LMNL1)

Explore 126 diseases affiliated with
LMNA via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Lamin A/C¹ 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

External Ids:	HGNC: 6636¹	Entrez Gene: 4000²	Ensembl: ENSG00000160789⁷	OMIM: 150330⁵	UniProtKB: P02545³

Export aliases for LMNA gene to outside databases

Previous GC identifers: GC01P153921 GC01P151817 GC01P152830 GC01P153301 GC01P152897 GC01P154318 GC01P127446

(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 nuclear

membrane, 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 damage

in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence

Gene Wiki entry for LMNA

(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

SwitchGear Promoter luciferase reporter plasmid: LMNA promoter sequence

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)
LMNA gene location

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

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, 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 and

with 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 envelope

targeting 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 the

disintegration 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 Q96JA2

Alternative 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 PhosphoSitePlus²

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:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins (see all 2): LMNA OriGene Protein Over-expression Lysate (see all 2): LMNA OriGene Custom Protein Services for LMNA
	GenScript Custom Purified and Recombinant Proteins Services for LMNA
	Novus Biologicals LMNA Protein Novus Biologicals LMNA Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for LMNA
	Uscn Proteins for LMNA

Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005626	insoluble fraction	--	--
GO:0005634	nucleus	IDA	--
GO:0005635	nuclear envelope	TAS	--
GO:0005638	lamin filament	TAS	10080180
GO:0005652	nuclear lamina	TAS	8344919

LMNA for ontologies About GeneDecksing

LMNA Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of LMNA
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for LMNA (lamin A/C)
	OriGene Antibodies (see all 5): LMNA OriGene Custom Antibody Services for LMNA
	GenScript Superior Antibodies for LMNA
	Novus Biologicals LMNA Antibodies
	Abcam antibodies for LMNA
	Uscn Antibodies for LMNA
	ThermoFisher Antibody for LMNA

Assay Products for LMNA:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for LMNA
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for LMNA

(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:

IPR018039 Intermediate_filament_CS

IPR001664 IF

IPR016044 F

IPR001322 Lamin_tail_dom

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, 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 nuclear

membrane, 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 damage

in 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

miRNA Products:		OriGene 3'-UTR Clone (see all 3): LMNA Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LMNA
		15 QIAGEN miScript miRNA Assays for microRNAs that regulate LMNA (see first 8):
		hsa-miR-3163 hsa-miR-548d-3p hsa-miR-222* hsa-miR-767-5p hsa-miR-16-1* hsa-miR-548aa hsa-miR-221* hsa-miR-942
		hsa-miR-9 hsa-miR-593* hsa-miR-129-5p hsa-miR-1183 hsa-miR-497* hsa-miR-223* hsa-miR-3714
		SwitchGear 3'UTR luciferase reporter plasmid: LMNA 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LMNA (see all 7) OriGene shRNA RFP: LMNA OriGene siRNA: LMNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LMNA

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for LMNA

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

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for LMNA
		Search LifeMap BioReagents cell lines for 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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005198	structural molecule activity	TAS	8344919
GO:0005515	protein binding	IPI	10727209

LMNA for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for LMNA:

Increased S DNA content

Increased gamma-H2AX phosphory

Upregulation of Wnt/beta-caten

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):

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial
digestive/alimentary	endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system
homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system

LMNA for phenotypes About GeneDecksing

(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 ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, 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

Apoptosis and survival_Caspase cascade

Apoptosis and survival_Caspase cascade	1.00	Apoptosis and survival FAS signaling cascades	0.44
Apoptosis and survival Caspase cascade	1.00	Caspase cascade in apoptosis	0.42
Apoptosis and survival_FAS signaling cascades	0.44	FAS pathway and Stress induction of HSP regulation	0.33

Clearance of Nuclear Envelope Membranes from Chromatin

Clearance of Nuclear Envelope Membranes from Chromatin	1.00	Nuclear Envelope Breakdown	0.56
Initiation of Nuclear Envelope Reformation	0.69	Mitotic Prophase	0.26
Nuclear Envelope Reassembly	0.69

M Phase

	M Phase	1.00			Mitotic Metaphase and Anaphase	0.85
	Mitotic M-M/G1 phases	0.88			Mitotic Anaphase	0.85

Meiotic Synapsis

	Meiotic Synapsis	1.00			Meiosis	0.70
	Telomere clustering at the nuclear membrane	0.82			Chromosome Maintenance	0.56

Activation of Chaperone Genes by XBP1(S)

	Activation of Chaperone Genes by XBP1(S)	1.00			Unfolded Protein Response	0.71
	Activation of Chaperones by IRE1alpha	0.94

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for LMNA

	Apoptosis and survival Caspase cascade
	Apoptosis and survival FAS signaling cascades

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LMNA

	Caspase Cascade
	Granzyme Pathway
	Fas Signaling

3 Cell Signaling Technology (CST) Pathways for LMNA

	Apoptosis and Autophagy
	Cell Cycle / Checkpoint Control
	Cytoskeletal Signaling

2 GeneGo (Thomson Reuters) Pathways for LMNA

	Apoptosis and survival Caspase cascade
	Apoptosis and survival FAS signaling cascades

4 BioSystems Pathways for LMNA

	FAS pathway and Stress induction of HSP regulation
	Adipogenesis
	Arrhythmogenic right ventricular cardiomyopathy
	Caspase cascade in apoptosis

5/24 Reactome Pathways for LMNA (see all 24)

	Initiation of Nuclear Envelope Reformation
	Clearance of Nuclear Envelope Membranes from Chromatin
	Cell Cycle
	M Phase
	Apoptosis

1 PharmGKB Pathway for LMNA

Antiarrhythmic Pathway, Pharmacodynamics

3 Kegg Pathways (Kegg details for LMNA):

	Hypertrophic cardiomyopathy (HCM)
	Arrhythmogenic right ventricular cardiomyopathy (ARVC)
	Dilated cardiomyopathy

LMNA for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM 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} ENSP00000357283⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 921)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST2H3A	Q71DI3²^,³, ENSP00000385479⁴	MINT-7893990 MINT-7893924 MINT-7894005 MINT-7894023 MINT-7893941 MINT-7894038 I2D: score=1 STRING: ENSP00000385479
HIST2H3C	Q71DI3²^,³	MINT-7893990 MINT-7893924 MINT-7894005 MINT-7894023 MINT-7893941 MINT-7894038 I2D: score=1
HIST2H3D	Q71DI3²^,³	MINT-7893990 MINT-7893924 MINT-7894005 MINT-7894023 MINT-7893941 MINT-7894038 I2D: score=1
ACTB	P60709²^,³, ENSP00000349960⁴	MINT-7945693 MINT-7899812 MINT-7947479 I2D: score=2 STRING: ENSP00000349960
H2AFX	P16104²^,³, ENSP00000364310⁴	MINT-8361862 MINT-7899812 I2D: score=2 STRING: ENSP00000364310

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

(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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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

(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)

miRNA Products:		OriGene 3'-UTR Clone (see all 3): LMNA Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LMNA
		8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate LMNA (see all 15):
		hsa-miR-3163 hsa-miR-548d-3p hsa-miR-222* hsa-miR-767-5p hsa-miR-16-1* hsa-miR-548aa hsa-miR-221* hsa-miR-942

		SwitchGear 3'UTR luciferase reporter plasmid: LMNA 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LMNA (see all 7) OriGene shRNA RFP: LMNA OriGene siRNA: LMNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LMNA

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

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LMNA Browse 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

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

24/1597 AceView cDNA sequences (see all 1597):

BG260177 CA395830 CA423881 CB528890 CB138659 BE408991 W23629 BU542321

AU139796 BE336696 CA406353 CA841908 BU174781 CB130594 AI219557 BQ686823

BE902429 BM795146 BE885040 BE273844 BQ431561 CB152958 CD367718 BQ933009

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

(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 imageBioGPS
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

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Node

Atrioventricular Node Cells

Myocardium

Ovary

Primary Follicle

Primary Oocyte

Female Gametocytes, Germ Cells

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Secondary follicles (Primary Cell)

Ovary, Reproductive System

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 is

prevalent 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:

TNF Ligands & Receptors in human mouse rat

Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Adipogenesis in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNA

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl 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 ↔ many 1 ↔ 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)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for LMNA gene

LMNB1² SYNM² VIM² INA² NES² PRPH² DES² NEFM²

LMNB2² NEFH² GFAP²

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

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, 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

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11549669^1,2	C	non-pathogenic	156084714(+)	`CATGGA/GGACCC`	7	E G	mis¹ ese³		0	--	--	--	--
rs11549668^1,2	C,F,	non-pathogenic	156084760(+)	`GCCAGC/TTCCAC`	7	S	syn¹		5		NA NS EU	2677
rs41313880^1,2	C,F,	non-pathogenic	156100408(+)	`TTTAGC/TAATAC`	10	C R	syn¹		2		NA EU	5759
rs80356805^1,2	C,F,	non-pathogenic	156100489(+)	`GAGGCC/TGCACT`	10	A	syn¹		3		CSA NA	4524
rs12117552^1,2	C,F,H,	non-pathogenic	156104292(+)	`GAACTG/AGACTT`	10	/L	nc-transcript-variantsyn¹		12		NS EA NA EU	7141
rs11264442^1,2	C,F,	non-pathogenic	156104375(+)	`CTTGGA/G/TCTGGG`	6	--	int¹		7		NA WA EA EU	1608
rs11264443^1,2	C,	non-pathogenic	156104392(+)	`NNNNCC/TAGCTG`	6	--	int¹		5		NA WA EA	362
rs80356807^1,2	C	non-pathogenic	156104586(+)	`CTCCAA/C/GCCCTT`	6	--	int¹		0	--	--	--	--
rs11549666^1,2	C,H	non-pathogenic	156104647(+)	`TTGACA/CATGGG`	10	N H	mis¹ ese³		4		NS EA	406
rs58235810^1,2	C	non-pathogenic	156104679(+)	`CGGCTA/GGCGGA`	10	L	nc-transcript-variantsyn¹		0	--	--	--	--

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

DNA2.0 Custom Variant and Variant Library Synthesis for LMNA

(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

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4000	HGNC: 6636	AceView: LMNA	Ensembl:ENSG00000160789	euGenes: HUgn4000
ECgene: LMNA	Kegg: 4000	H-InvDB: LMNA

(According to HUGE)
About This Section

(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

Intellectual Property for LMNA gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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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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LMNA (Gene Symbol)
Lamin A/C
LMN1
CMD1A
HGPS
LGMD1B
LMNL1
PRO1
Lamin A/C-Like 1
EMD2
FPLD
Cardiomyopathy, Dilated 1A (Autosomal Dominant)
Limb Girdle Muscular Dystrophy 1B (Autosomal Dominant)
Progeria 1 (Hutchinson-Gilford Type)
70 KDa Lamin
CDCD1
CDDC
CMT2B1
FPL
FPLD2
IDC
LDP1
LFP
LMNC
Lamin
Prelamin-A/C
Renal Carcinoma Antigen NY-REN-32

Limb girdle
Retinoblastoma
Hyperinsulinemia
hereditary neuropathy
Death Sudden Cardiac
LGMD1B
dysplasia
Glucose Intolerance
COLON CARCINOMA
Teratocarcinoma
Atherosclerosis
Metaplasia
Breast Cancer
cellular pathology
Neuromuscular Diseases
Charcot-Marie-Tooth Neuropathy Type 2
Cancer
LIPODYSTROPHY, FAMILIAL PARTIAL
Tachycardia Ventricular
Cardiomyopathy
Heart Defects Congenital
Dyslipidemia
Shock
Death Sudden
Atrioventricular Block
MANDIBULOACRAL DYSPLASIA
Arrhythmia
Hypertrophy
Muscular Dystrophy Limb-Girdle
Tumors
Pelger-Huet Anomaly
metabolic disorder
Hyperandrogenism
Coronary Heart Disease
Developmental Disabilities
Muscular Dystrophies
LMNA-Related Dilated Cardiomyopathy
PARTIAL LIPODYSTROPHY
VENTRICULAR ARRHYTHMIA
Atrial Fibrillation
Carcinoma
acroosteolysis
DEFECT CONDUCTION
Werner Syndrome
Calcinosis
Diabetes Mellitus
Ventricular Dysfunction Left
Muscular Dystrophy Emery-Dreifuss
Charcot-Marie-Tooth Disease
Contracture
congenital malformation
Calcification
Myopathy
Acanthosis Nigricans
Cancer Lung
rare disease
HEART FAILURE
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
Coronary Artery Disease
Hypoplasia
Hutchinson-Gilford Progeria
Heart Diseases
Insulin Resistance
LGMD2A
OBESITY
Lipodystrophy
Progeria
Polycystic Ovary Syndrome
Atrophy
Carcinoma Embryonal
LIPODYSTROPHY, CONGENITAL GENERALIZED
Emery-Dreifuss Muscular Dystrophy
NIDDM
Muscular Atrophy Spinal
genetic disorder
Growth retardation
Dilated Cardiomyopathy

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LMNA Gene

lamin A/C

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for LMNA gene

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for LMNA gene

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for LMNA gene

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for LMNA gene

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Families
for LMNA gene

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for LMNA gene

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for LMNA gene

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for LMNA gene

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for LMNA gene

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for LMNA gene

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for LMNA gene

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for LMNA gene