LMNA (lamin A/C)

2007-02-01  

Identity

HGNC
LMNA
LOCATION
1q22
LOCUSID
4000
ALIAS
CDCD1,CDDC,CMD1A,CMT2B1,EMD2,FPL,FPLD,FPLD2,HGPS,IDC,LDP1,LFP,LGMD1B,LMN1,LMNC,LMNL1,MADA,PRO1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4000
MIM: 150330
HGNC: 6636
Ensembl: ENSG00000160789

Variants:

dbSNP: 4000
ClinVar: 4000
TCGA: ENSG00000160789
COSMIC: LMNA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160789ENST00000347559P02545
ENSG00000160789ENST00000361308Q3BDU5
ENSG00000160789ENST00000368297Q5TCI8
ENSG00000160789ENST00000368299P02545
ENSG00000160789ENST00000368300P02545
ENSG00000160789ENST00000368300A0A384MQX1
ENSG00000160789ENST00000368301P02545
ENSG00000160789ENST00000448611P02545
ENSG00000160789ENST00000473598P02545
ENSG00000160789ENST00000504687H0YAB0
ENSG00000160789ENST00000508500A0A0C4DGC5
ENSG00000160789ENST00000515459D6RB20

Expression (GTEx)

0
50
100
150
200
250
300
350
400
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
ApoptosisKEGGko04210
ApoptosisKEGGhsa04210
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Metabolism of proteinsREACTOMER-HSA-392499
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic ProphaseREACTOMER-HSA-68875
Nuclear Envelope BreakdownREACTOMER-HSA-2980766
Depolymerisation of the Nuclear LaminaREACTOMER-HSA-4419969
Mitotic Metaphase and AnaphaseREACTOMER-HSA-2555396
Mitotic AnaphaseREACTOMER-HSA-68882
Nuclear Envelope ReassemblyREACTOMER-HSA-2995410
Initiation of Nuclear Envelope ReformationREACTOMER-HSA-2995383
MeiosisREACTOMER-HSA-1500620
Meiotic synapsisREACTOMER-HSA-1221632
Programmed Cell DeathREACTOMER-HSA-5357801
ApoptosisREACTOMER-HSA-109581
Apoptotic execution phaseREACTOMER-HSA-75153
Apoptotic cleavage of cellular proteinsREACTOMER-HSA-111465
Breakdown of the nuclear laminaREACTOMER-HSA-352238
Oncogenic MAPK signalingREACTOMER-HSA-6802957
Signaling by BRAF and RAF fusionsREACTOMER-HSA-6802952
Neurodegenerative DiseasesREACTOMER-HSA-8863678
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease modelsREACTOMER-HSA-8862803

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162375571ACTC1GeneDataAnnotationassociated
PA28707GLAGeneDataAnnotationassociated
PA31351MYBPC3GeneDataAnnotationassociated
PA31374MYH7GeneDataAnnotationassociated
PA31380MYL2GeneDataAnnotationassociated
PA31381MYL3GeneDataAnnotationassociated
PA33752PRKAG2GeneDataAnnotationassociated
PA36636TNNI3GeneDataAnnotationassociated
PA36638TNNT2GeneDataAnnotationassociated
PA36690TPM1GeneDataAnnotationassociated
PA443632Cardiomyopathy, DilatedDiseaseDataAnnotationassociated
PA443633Cardiomyopathy, HypertrophicDiseaseDataAnnotationassociated

References

Pubmed IDYearTitleCitations
372465082024Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.0
378433972024Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.2
382550012024Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome.0
385546962024Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells.0
386131942024Acquired NF2 mutation confers resistance to TRK inhibition in an ex vivo LMNA::NTRK1-rearranged soft-tissue sarcoma cell model.0
387395242024Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases.0
388920252024Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.0
372465082024Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.0
378433972024Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.2
382550012024Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome.0
385546962024Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells.0
386131942024Acquired NF2 mutation confers resistance to TRK inhibition in an ex vivo LMNA::NTRK1-rearranged soft-tissue sarcoma cell model.0
387395242024Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases.0
388920252024Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.0
355140532023A novel deletion mutation accompanied by a point mutation in Lamin A/C gene: Screened from a dilated cardiomyopathy family.0

Citation

Dessen P

LMNA (lamin A/C)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43997/lmna-(lamin-a-c)