Property Summary

NCBI Gene PubMed Count 537
Grant Count 309
R01 Count 150
Funding $53,001,243.29
PubMed Score 1039.28
PubTator Score 1343.55

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (75)

Disease Z-score Confidence
Progeria 22 7.773 3.9
Lipodystrophy 32 7.138 3.6
Cardiomyopathy 110 5.765 2.9
Myopathy 128 5.625 2.8
Werner syndrome 29 4.534 2.3
Acanthosis nigricans 14 4.265 2.1
Atrioventricular block 21 3.931 2.0
Neuropathy 210 3.604 1.8
Skin atrophy 13 3.477 1.7
Alopecia 55 3.459 1.7
Lipid metabolism disorder 102 3.374 1.7
diabetes mellitus 1,663 3.33 1.7
Cerebrovascular disease 231 3.296 1.6
Pelger-Huet Anomaly 8 3.253 1.6
Adenocarcinoma of lung (disorder) 48
Arrhythmogenic Right Ventricular Dysplas... 10 
Autosomal Dominant Emery-Dreifuss Muscul... 4 
Autosomal Recessive Emery-Dreifuss Muscu... 1 
COPD 113
Cardiomyopathies 90
Cardiomyopathy, Dilated 47
Cardiomyopathy, Familial Idiopathic 2
Charcot-Marie-Tooth disease 74 4.0
Charcot-Marie-Tooth disease, Type 2B1 1
Congenital Foot Deformity 4
Congenital Hand Deformities 8
Congenital muscular dystrophy 25 4.0
Congenital muscular dystrophy (disorder) 8
Craniofacial Abnormalities 147
Dilated cardiomyopathy 50 5.0
Emery-Dreifuss Muscular Dystrophy 3 1
Emery-Dreifuss muscular dystrophy 24 4.0
Familial Partial Lipodystrophy, Type 1 1
Familial Partial Lipodystrophy, Type 2 1
Familial partial lipodystrophy 7
HIV-Associated Lipodystrophy Syndrome 2
Heart Block 2
Heart-hand syndrome, Slovenian type 1
Left ventricular noncompaction 23
Lethal tight skin contracture syndrome (... 2 
Localized scleroderma 9
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-REL... 1 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B... 1 
Malouf syndrome 1
Mandibuloacral dysostosis 2
Multiple myeloma 1,327
Muscular Dystrophies, Limb-Girdle 3
Muscular Dystrophy, Emery-Dreifuss 4
Najjar syndrome 1
Neurodegenerative disease 383 4.0
Polycystic Ovary Syndrome 332
Progeria Syndrome, Childhood-Onset 1
Sinoatrial Block 1
Sudden Cardiac Death 7
Tachycardia, Ventricular 10
acute quadriplegic myopathy 1,157
atypical teratoid / rhabdoid tumor 4,369
gastric carcinoma 832
glioblastoma 5,572
limb-girdle muscular dystrophy 36 4.0
lung cancer 4,466
lung carcinoma 2,844
mucosa-associated lymphoid tissue lympho... 480 
osteosarcoma 7,933
ovarian cancer 8,484
pancreatic cancer 2,300
pancreatic ductal adenocarcinoma liver m... 1,795 
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
posterior fossa group A ependymoma 1,511
primary Sjogren syndrome 789
psoriasis 6,685
sarcoidosis 358
subependymal giant cell astrocytoma 2,287
tuberculosis 1,557

Expression

  Differential Expression (22)

Disease log2 FC p
Multiple myeloma 1.439 0.021
psoriasis -1.800 0.000
glioblastoma 1.800 0.002
osteosarcoma 1.882 0.001
posterior fossa group A ependymoma 2.200 0.000
atypical teratoid / rhabdoid tumor 1.700 0.000
acute quadriplegic myopathy 1.105 0.000
tuberculosis -3.600 0.000
pancreatic ductal adenocarcinoma liver m... 1.392 0.001
lung cancer -2.300 0.000
sarcoidosis -1.200 0.016
diabetes mellitus -1.700 0.007
pediatric high grade glioma 1.500 0.000
pilocytic astrocytoma 1.300 0.000
primary Sjogren syndrome -1.300 0.032
subependymal giant cell astrocytoma 1.116 0.004
COPD -1.100 0.009
lung carcinoma -1.500 0.000
gastric carcinoma 1.700 0.044
mucosa-associated lymphoid tissue lympho... 1.320 0.022
ovarian cancer 2.300 0.000
pancreatic cancer 1.200 0.011

Synonym

Accession P02545 B4DI32 D3DVB0 D6RAQ3 E7EUI9 P02546 Q5I6Y4 Q5I6Y6 Q5TCJ2 Q5TCJ3 Q6UYC3 Q969I8 Q96JA2
Symbols FPL
IDC
LFP
CDDC
EMD2
FPLD
HGPS
LDP1
LMN1
LMNC
MADA
PRO1
CDCD1
CMD1A
FPLD2
LMNL1
CMT2B1
LGMD1B

Gene

PDB

1IFR   1IVT   1X8Y   2XV5   2YPT   3GEF   3V4Q   3V4W   3V5B  

MLP Assay (4)

AID Type Active / Inconclusive / Inactive Description
1459 confirmatory 0 / 343 / 936 Validation of Assay for Modulators of Lamin A Splicing
1487 confirmatory 27 / 46337 / 151734 qHTS Assay for Modulators of Lamin A Splicing
1498 confirmatory 0 / 131 / 21 Confirmation Concentration-Response Assay for Modulators of Lamin A Splicing
493173 summary 0 / 0 / 0 qHTS Assay for Modulators of Lamin A Splicing: Summary

Gene RIF (439)

PMID Text
26977629 In the Russian population, the frequency of congenital muscular dystrophy caused by mutations in the LMNA gene is not less than 12% of all cases of this group of diseases.
26921507 interactions between SIM3 of lamin A and a putative SUMO2-modified protein plays an important role in the reorganization of the nuclear lamina at the end of mitosis.
26876308 Data show that lamins A and B are differently processed in staurosporine and beta-Amyloid peptide fragments Abeta42-treated cells.
26724531 ZMPSTE24 downregulation is a major contributor in VSMC dysfunctions resulting from LMNA mutations or PI treatments that could translate in early atherosclerosis at the clinical level.
26634508 the C to T mutation at the rs4641 locus of LMNA could enhance the risk of DCM, and that rs4641 represented a genetic susceptibility locus.
26573435 This study demonistrated that Muscle MRI/CT identifies a similar pattern of muscle fatty infiltration in patients with mutations in the EMD or the LMNA genes.
26549451 Lamin A promotes SIRT6-dependent DNA-PKcs (DNA-PK catalytic subunit) recruitment to chromatin.
26537870 Lamin A/C deficiency may serve as an independent risk factor for cervical intra-epithelial neoplasia development and as an indicator for preventive therapy in cervical cancer.
26447202 Lamin A/C knockdown increased shear stress-induced tumor cell apoptosis.
26439802 Development of tumor initiating cells in neuroblastoma is due to an increased expression of MYCN gene. In neuroblastoma an inverse relationship exists between LMNA and MYCN expression.
More...

AA Sequence

METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVV      1 - 70
SREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEAL     71 - 140
LNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNI    141 - 210
YSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAER    211 - 280
NSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRA    281 - 350
RMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRK    351 - 420
LESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLK    421 - 490
AGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD    491 - 560
LLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVG    561 - 630
GSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM                                        631 - 664
//

Text Mined References (571)

PMID Year Title
27234031 2016 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
26977629 2016 [Clinical/genetic characteristics of patients with congenital muscular dystrophy caused by mutations in the LMNA gene].
26921507 2016 Lamin A reassembly at the end of mitosis is regulated by its SUMO-interacting motif.
26876308 2016 ?-Amyloid induces nuclear protease-mediated lamin fragmentation independent of caspase activation.
26724531 2016 LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation.
26634508 2015 Association of the LMNA gene single nucleotide polymorphism rs4641 with bdilated cardiomyopathy.
26573435 2016 Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.
26549451 2015 Lamin A Is an Endogenous SIRT6 Activator and Promotes SIRT6-Mediated DNA Repair.
26537870 2016 Lamin A/C deficiency is an independent risk factor for cervical cancer.
26447202 2015 Lamin A/C deficiency reduces circulating tumor cell resistance to fluid shear stress.
More...