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Aliases for LMNA Gene

Aliases for LMNA Gene

  • Lamin A/C 2 3 5
  • Mandibuloacral Dysplasia Type A 2 3
  • Lamin A/C-Like 1 2 3
  • LMN1 3 4
  • Limb Girdle Muscular Dystrophy 1B (Autosomal Dominant) 2
  • Cardiomyopathy, Dilated 1A (Autosomal Dominant) 2
  • Progeria 1 (Hutchinson-Gilford Type) 2
  • Renal Carcinoma Antigen NY-REN-32 3
  • 70 KDa Lamin 3
  • Prelamin-A/C 3
  • CMT2B1 3
  • LGMD1B 3
  • LMNL1 3
  • CDCD1 3
  • FPLD2 3
  • Lamin 3
  • CMD1A 3
  • MADA 3
  • CDDC 3
  • EMD2 3
  • FPLD 3
  • HGPS 3
  • LDP1 3
  • LMNC 3
  • PRO1 3
  • FPL 3
  • IDC 3
  • LFP 3

External Ids for LMNA Gene

Previous HGNC Symbols for LMNA Gene

  • LMN1
  • CMD1A
  • LGMD1B
  • PRO1
  • LMNL1

Previous GeneCards Identifiers for LMNA Gene

  • GC01P153921
  • GC01P151817
  • GC01P152830
  • GC01P153301
  • GC01P152897
  • GC01P154318
  • GC01P156053
  • GC01P127446

Summaries for LMNA Gene

Entrez Gene Summary for LMNA Gene

  • 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]

GeneCards Summary for LMNA Gene

LMNA (Lamin A/C) is a Protein Coding gene. Diseases associated with LMNA include Hutchinson-Gilford Progeria Syndrome and Muscular Dystrophy, Congenital, Lmna-Related. Among its related pathways are Mitotic Prophase and Oncogenic MAPK signaling. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is LMNB1.

UniProtKB/Swiss-Prot for LMNA Gene

  • 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. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:22431096, PubMed:10814726, PubMed:11799477, PubMed:18551513). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:18611980, PubMed:23666920).

  • 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 Gene

Additional gene information for LMNA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMNA Gene

Genomics for LMNA Gene

GeneHancer (GH) Regulatory Elements for LMNA Gene

Promoters and enhancers for LMNA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I156111 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 593.7 +38.8 38843 19.4 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 LMNA GON4L CLK2 RRNAD1 KHDC4 LOC246784 MSTO1 MSTO2P PRCC ISG20L2
GH01I156079 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.2 1227 7.9 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 LMNA MEX3A CLK2 KHDC4 SYT11 RIT1 GC01M156123
GH01I155242 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 46.8 -838.3 -838304 2.9 FEZF1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GBA KHDC4 GON4L CLK2 ENSG00000271267 MSTO1 MSTO2P RUSC1-AS1 THBS3 SHC1
GH01I156099 Promoter/Enhancer 2.7 VISTA FANTOM5 Ensembl ENCODE dbSUPER 33 +21.6 21620 8.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 ZNF207 LMNA KHDC4 MEX3A ENSG00000271267 LAMTOR2 UBQLN4 BGLAP RXFP4 MSTO1 MSTO2P
GH01I156656 Enhancer 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 31.8 +581.7 581713 15.3 CLOCK MLX ZFP64 DMAP1 IRF4 ZNF213 E2F8 ZNF416 ZNF143 ZNF263 GON4L KHDC4 RRNAD1 LOC246784 PRCC MSTO2P LMNA ISG20L2 YY1AP1 CCT3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LMNA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LMNA gene promoter:

Genomic Locations for LMNA Gene

Genomic Locations for LMNA Gene
chr1:156,082,546-156,140,089
(GRCh38/hg38)
Size:
57,544 bases
Orientation:
Plus strand
chr1:156,052,364-156,109,880
(GRCh37/hg19)

Genomic View for LMNA Gene

Genes around LMNA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMNA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMNA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMNA Gene

Proteins for LMNA Gene

  • Protein details for LMNA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02545-LMNA_HUMAN
    Recommended name:
    Prelamin-A/C
    Protein Accession:
    P02545
    Secondary Accessions:
    • B4DI32
    • D3DVB0
    • D6RAQ3
    • E7EUI9
    • P02546
    • Q5I6Y4
    • Q5I6Y6
    • Q5TCJ2
    • Q5TCJ3
    • Q6UYC3
    • Q969I8
    • Q96JA2

    Protein attributes for LMNA Gene

    Size:
    664 amino acids
    Molecular mass:
    74139 Da
    Quaternary structure:
    • 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. Interacts with TMEM201 (By similarity). Proteolytically processed isoform A interacts with NARF. Interacts with SUN1. Prelamin-A/C interacts with EMD. Interacts with MLIP. Interacts with DMPK; may regulate nuclear envelope stability. Interacts with SUV39H1; the interaction increases stability of SUV39H1. Interacts with SYNE2.
    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.
    • There are three types of lamins in human cells: A, B, and C.
    SequenceCaution:
    • Sequence=CAA27173.1; Type=Frameshift; Positions=582; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LMNA Gene

    Alternative splice isoforms for LMNA Gene

neXtProt entry for LMNA Gene

Post-translational modifications for LMNA Gene

  • Farnesylation of prelamin-A/C facilitates nuclear envelope targeting.
  • Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations.
  • 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 cleavage.
  • Sumoylation is necessary for the localization to the nuclear envelope.
  • Ubiquitination at posLast=7878, posLast=144144, isoforms=4, 5, 6, 3, 2171, posLast=181181, posLast=201201, posLast=208208, isoforms=4, 5, 6, 3, 2265, isoforms=4, 5, 6, 3, 2311, and posLast=486486
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for LMNA Gene

Domains & Families for LMNA Gene

Gene Families for LMNA Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P02545

UniProtKB/Swiss-Prot:

LMNA_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with LMNA: view

Function for LMNA Gene

Molecular function for LMNA Gene

GENATLAS Biochemistry:
lamin,types A and C,common gene,alternatively spliced isoforms
UniProtKB/Swiss-Prot 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. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:22431096, PubMed:10814726, PubMed:11799477, PubMed:18551513). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:18611980, PubMed:23666920).
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for LMNA Gene

Gene Ontology (GO) - Molecular Function for LMNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 10514485
genes like me logo Genes that share ontologies with LMNA: view
genes like me logo Genes that share phenotypes with LMNA: view

Human Phenotype Ontology for LMNA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LMNA Gene

MGI Knock Outs for LMNA:

Clone Products

  • Addgene plasmids for LMNA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LMNA Gene

Localization for LMNA Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMNA Gene

Nucleus. Nucleus envelope. Nucleus lamina. Nucleus, nucleoplasm. 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.
Isoform C: Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LMNA gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for LMNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 18809582
GO:0005635 nuclear envelope TAS --
GO:0005638 lamin filament IEA --
GO:0005652 nuclear lamina IEA --
GO:0005654 nucleoplasm IDA,TAS --
genes like me logo Genes that share ontologies with LMNA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LMNA Gene

Pathways & Interactions for LMNA Gene

genes like me logo Genes that share pathways with LMNA: view

SIGNOR curated interactions for LMNA Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for LMNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006997 nucleus organization IEA --
GO:0006998 nuclear envelope organization IEA --
GO:0007077 mitotic nuclear envelope disassembly TAS --
GO:0007084 mitotic nuclear envelope reassembly TAS --
GO:0008285 negative regulation of cell proliferation IMP 27534416
genes like me logo Genes that share ontologies with LMNA: view

Drugs & Compounds for LMNA Gene

(14) Drugs for LMNA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for LMNA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LMNA: view

Transcripts for LMNA Gene

Unigene Clusters for LMNA Gene

Lamin A/C:
Representative Sequences:

Clone Products

  • Addgene plasmids for LMNA

Alternative Splicing Database (ASD) splice patterns (SP) for LMNA Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c
SP1: - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for LMNA Gene

GeneLoc Exon Structure for
LMNA
ECgene alternative splicing isoforms for
LMNA

Expression for LMNA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LMNA Gene

Protein differential expression in normal tissues from HIPED for LMNA Gene

This gene is overexpressed in Bone marrow stromal cell (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LMNA Gene



Protein tissue co-expression partners for LMNA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LMNA Gene:

LMNA

SOURCE GeneReport for Unigene cluster for LMNA Gene:

Hs.594444

mRNA Expression by UniProt/SwissProt for LMNA Gene:

P02545-LMNA_HUMAN
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.

Evidence on tissue expression from TISSUES for LMNA Gene

  • Kidney(5)
  • Lung(5)
  • Skin(5)
  • Nervous system(5)
  • Intestine(4.9)
  • Liver(4.9)
  • Pancreas(4.7)
  • Spleen(4.2)
  • Heart(4.1)
  • Muscle(3.8)
  • Lymph node(3.7)
  • Eye(3.6)
  • Bone(3.4)
  • Stomach(3.4)
  • Blood(3.2)
  • Adrenal gland(2.7)
  • Gall bladder(2.7)
  • Thyroid gland(2.7)
  • Bone marrow(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LMNA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • scalp
  • skull
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with LMNA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LMNA Gene

Orthologs for LMNA Gene

This gene was present in the common ancestor of animals.

Orthologs for LMNA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LMNA 33 34
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia LMNA 33 34
  • 92.67 (n)
cow
(Bos Taurus)
Mammalia LMNA 33 34
  • 92.55 (n)
oppossum
(Monodelphis domestica)
Mammalia LMNA 34
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LMNA 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lmna 33 16 34
  • 90.15 (n)
rat
(Rattus norvegicus)
Mammalia Lmna 33
  • 83.59 (n)
chicken
(Gallus gallus)
Aves -- 34
  • 47 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 67 (a)
OneToMany
-- 34
  • 57 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia lmna 33
  • 72.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia lmna-A 33
zebrafish
(Danio rerio)
Actinopterygii lmna 33 34
  • 66.72 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008015 33
  • 51.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta Lam 35 34
  • 37 (a)
LamC 35 34
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea lmn-1 35 34
  • 30 (a)
ifb-1 35
  • 29 (a)
ifa-2 35
  • 27 (a)
ifa-4 35
  • 27 (a)
ifb-2 35
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8283 34
  • 34 (a)
OneToMany
Species where no ortholog for LMNA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LMNA Gene

ENSEMBL:
Gene Tree for LMNA (if available)
TreeFam:
Gene Tree for LMNA (if available)

Paralogs for LMNA Gene

Paralogs for LMNA Gene

(5) SIMAP similar genes for LMNA Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with LMNA: view

Variants for LMNA Gene

Sequence variations from dbSNP and Humsavar for LMNA Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057515421 pathogenic, Dilated cardiomyopathy 1A 156,136,284(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1057516022 uncertain-significance, Hutchinson-Gilford syndrome, Mandibuloacral dysplasia, Limb-Girdle Muscular Dystrophy, Recessive, Lethal tight skin contracture syndrome, Charcot-Marie-Tooth, Type 2, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Familial partial lipodystrophy, Emery-Dreifuss muscular dystrophy, Dilated Cardiomyopathy, Dominant, Congenital muscular dystrophy, LMNA-related 156,137,867(+) C/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1057518971 likely-pathogenic, Congenital muscular dystrophy 156,115,048(+) G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1060502210 uncertain-significance, Charcot-Marie-Tooth disease, type 2 156,134,491(+) AGGAGGA/AGGA 5_prime_UTR_variant, coding_sequence_variant, inframe_deletion, non_coding_transcript_variant
rs1060502211 pathogenic, Charcot-Marie-Tooth disease, type 2 156,135,952(+) G/T coding_sequence_variant, non_coding_transcript_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for LMNA Gene

Variant ID Type Subtype PubMed ID
esv3428000 CNV duplication 20981092
nsv1078975 CNV deletion 25765185
nsv1142784 CNV deletion 24896259
nsv509513 CNV insertion 20534489
nsv824831 CNV gain 20364138

Variation tolerance for LMNA Gene

Residual Variation Intolerance Score: 11.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LMNA Gene

Human Gene Mutation Database (HGMD)
LMNA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LMNA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMNA Gene

Disorders for LMNA Gene

MalaCards: The human disease database

(76) MalaCards diseases for LMNA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

LMNA_HUMAN
  • Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:10580070, ECO:0000269 PubMed:11561226, ECO:0000269 PubMed:11792809, ECO:0000269 PubMed:11897440, ECO:0000269 PubMed:12486434, ECO:0000269 PubMed:12628721, ECO:0000269 PubMed:12920062, ECO:0000269 PubMed:14684700, ECO:0000269 PubMed:15140538, ECO:0000269 PubMed:15219508, ECO:0000269 PubMed:16061563, ECO:0000269 PubMed:18606848, ECO:0000269 PubMed:20160190, ECO:0000269 PubMed:21846512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:12927431, ECO:0000269 PubMed:17150192, ECO:0000269 PubMed:19283854}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2B1 (CMT2B1) [MIM:605588]: A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:11799477}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]: A form of Emery-Dreifuss muscular dystrophy, 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. {ECO:0000269 PubMed:10080180, ECO:0000269 PubMed:10739764, ECO:0000269 PubMed:10908904, ECO:0000269 PubMed:10939567, ECO:0000269 PubMed:11503164, ECO:0000269 PubMed:11792809, ECO:0000269 PubMed:12032588, ECO:0000269 PubMed:12467752, ECO:0000269 PubMed:12649505, ECO:0000269 PubMed:14684700, ECO:0000269 PubMed:14985400, ECO:0000269 PubMed:15744034, ECO:0000269 PubMed:19933576, ECO:0000269 PubMed:20848652}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:616516]: A form of Emery-Dreifuss muscular dystrophy, 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. {ECO:0000269 PubMed:22431096, ECO:0000269 PubMed:27234031}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:18611980}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]: Rare genetic disorder characterized by features reminiscent of marked premature aging. {ECO:0000269 PubMed:12714972, ECO:0000269 PubMed:12768443, ECO:0000269 PubMed:12927431, ECO:0000269 PubMed:15060110, ECO:0000269 PubMed:15286156, ECO:0000269 PubMed:15622532, ECO:0000269 PubMed:19933576, ECO:0000269 PubMed:21791255, ECO:0000269 PubMed:22355414, ECO:0000269 PubMed:23666920}. Note=The disease is caused by mutations affecting the gene represented in this entry. HGPS is caused by the toxic accumulation of a truncated form of lamin-A/C. This mutant protein, called progerin (isoform 6), acts to deregulate mitosis and DNA damage signaling, leading to premature cell death and senescence. The mutant form is mainly generated by a silent or missense mutation at codon 608 of prelamin A that causes activation of a cryptic splice donor site, resulting in production of isoform 6 with a deletion of 50 amino acids near the C terminus. 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 (PubMed:12714972). {ECO:0000269 PubMed:12714972}.
  • Lethal tight skin contracture syndrome (LTSCS) [MIM:275210]: 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. {ECO:0000269 PubMed:15317753}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Limb-girdle muscular dystrophy 1B (LGMD1B) [MIM:159001]: An autosomal dominant degenerative myopathy with age-related atrioventricular cardiac conduction disturbances, dilated cardiomyopathy, and the absence of early contractures. Characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes. {ECO:0000269 PubMed:10814726, ECO:0000269 PubMed:11525883, ECO:0000269 PubMed:12032588, ECO:0000269 PubMed:12673789, ECO:0000269 PubMed:15744034, ECO:0000269 PubMed:17136397, ECO:0000269 PubMed:27234031}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]: 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. {ECO:0000269 PubMed:10587585, ECO:0000269 PubMed:10655060, ECO:0000269 PubMed:10739751, ECO:0000269 PubMed:11792809, ECO:0000269 PubMed:12015247, ECO:0000269 PubMed:12196663, ECO:0000269 PubMed:12629077, ECO:0000269 PubMed:17250669, ECO:0000269 PubMed:19220582, ECO:0000269 PubMed:24485160}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]: A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid 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. {ECO:0000269 PubMed:12075506, ECO:0000269 PubMed:15998779, ECO:0000269 PubMed:16278265}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]: 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. {ECO:0000269 PubMed:18551513}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in LMNA may cause a late-onset cardiocutaneous progeria syndrome characterized by cutaneous manifestations of aging appearing in the third decade of life, cardiac valve calcification and dysfunction, prominent atherosclerosis, and cardiomyopathy, leading to death on average in the fourth decade. {ECO:0000269 PubMed:23666920}.

Additional Disease Information for LMNA

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