LMNA (lamin A/C)

2007-02-01  

Identity

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

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

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

PharmGKB

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

References

Pubmed IDYearTitleCitations
127149722003Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.635
239905652013Nuclear lamin-A scales with tissue stiffness and enhances matrix-directed differentiation.510
166450512006Lamin A-dependent nuclear defects in human aging.411
127028092003Lamin a truncation in Hutchinson-Gilford progeria.408
167380542006Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging.273
243154432013Human iPSC-based modeling of late-onset disease via progerin-induced aging.240
183111322008Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing.204
191414742008The A- and B-type nuclear lamin networks: microdomains involved in chromatin organization and transcription.200
161298332005Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome.138
161794292006Lamin A/C expression is a marker of mouse and human embryonic stem cell differentiation.133

Citation

Dessen P

LMNA (lamin A/C)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43997/lmna