| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 4000 |
Name | LMNA |
Synonym | CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|PRO1;lamin A/C;LMNA;lamin A/C |
Definition | 70 kDa lamin|lamin|lamin A/C-like 1|prelamin-A/C|renal carcinoma antigen NY-REN-32 |
Position | 1q22 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Apoptosis;Reactome;REACT:578 |
Pathway | Arrhythmogenic right ventricular cardiomyopathy (ARVC);KEGG PATHWAY;hsa05412 |
Pathway | Caspase cascade in apoptosis;PID Curated;200148 |
Pathway | induction of apoptosis through dr3 and dr4/5 death receptors;PID BioCarta;100189 |
Pathway | Dilated cardiomyopathy;KEGG PATHWAY;hsa05414 |
Pathway | caspase cascade in apoptosis;PID BioCarta;100218 |
Pathway | Hypertrophic cardiomyopathy (HCM);KEGG PATHWAY;hsa05410 |
Pathway | Diabetes pathways;Reactome;REACT:15380 |
Pathway | Breakdown of the nuclear lamina;PID Reactome;500273 |
Pathway | FAS signaling pathway;PANTHER;P00020 |
Pathway | tnfr1 signaling pathway;PID BioCarta;100015 |
Disease | Muscular dystrophies;FunDO |
Disease | Hutchinson-Gilford progeria;OMIM |
Disease | Lipodystrophy;FunDO |
Disease | dyslipidemia and insulin resistance;GAD |
Disease | Muscular dystrophy, limb-girdle, type 1B;OMIM |
Disease | Emery-Dreifuss muscular dystrophy, AR;OMIM |
Disease | Restrictive dermopathy, lethal;OMIM |
Disease | diabetes, type 2;GAD |
Disease | obesity;GAD |
Disease | Metabolism disease;FunDO |
Disease | Neuropathy;FunDO |
Disease | Circulatory system diseases;KEGG DISEASE |
Disease | nephropathy in other diseases;GAD |
Disease | Familial partial lipodystrophy;KEGG DISEASE;H00420 |
Disease | Cockayne syndrome;FunDO |
Disease | METABOLIC;GAD |
Disease | Cardiac diseases;KEGG DISEASE |
Disease | Colon cancer;FunDO |
Disease | leptin;GAD |
Disease | Cardiomyopathy, dilated, 1A;OMIM |
Disease | Charcot-Marie-Tooth disease;FunDO |
Disease | Genetic disorders;KEGG DISEASE |
Disease | CARDIOVASCULAR;GAD |
Disease | insulin;GAD |
Disease | Other genetic disorders;KEGG DISEASE |
Disease | cerebrovascular disease;GAD |
Disease | Dilated cardiomyopathy (DCM);KEGG DISEASE;H00294 |
Disease | Lipodystrophy, familial partial;OMIM |
Disease | adipocyte size, large subcutaneous abdominal;GAD |
Disease | Hereditary disease;FunDO |
Disease | Virus disease;FunDO |
Disease | Muscular atrophy;FunDO |
Disease | Charcot-Marie-Tooth disease, type 2B1;OMIM |
Disease | Heart disease;FunDO |
Disease | cardiomyopathy;GAD |
Disease | Infertility;FunDO |
Disease | Emery-Dreifuss muscular dystrophy, AD;OMIM |
Disease | Mandibuloacral dysplasia;OMIM |
Disease | RENAL;GAD |
External Links | |
Links to Entrez Gene | 4000 |
Links to all GeneRIF Items | 4000 |
Links to iHOP | 4000 |
Sequence Information | |
Nucleotide Sequence | >4000 : length: 3259 AGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCG CACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGC CTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGT CCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAAC CTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGC TCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAG CTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCA GGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATC AAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAG GAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAA GCGCGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTG GAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACG CTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGCTTGAGGCAGCCCTAGGT GAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTG CAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGAGCTGCGTGAG ACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTT GAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAG CAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGCTGGACAATGCCAGGCAGTCT GCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATC CGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGGCCCTTGGGAGCTC ACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGA GGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGA GATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGA CATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGA GGAGAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTC TCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCAC TGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGA GGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGACCAGTCCAT GGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCC ACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGATCTGGGCTGCAGGAGCTGGGGC CACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAA CAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGAAGTGGCCATGCGCAAGCTGGT GCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCA CCACCACGGCTCCCACTGCAGCAGCTCGGGGGACCCCGCTGAGTACAACCTGCGCTCGCG CACCGTGCTGTGCGGGACCTGCGGGCAGCCTGCCGACAAGGCATCTGCCAGCGGCTCAGG AGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCCAGTGTCACGGTCACTCG CAGCTACCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAATCTGGTCACCCG CTCCTACCTCCTGGGCAACTCCAGCCCCCGAACCCAGAGCCCCCAGAACTGCAGCATCAT GTAATCTGGGACCTGCCAGGCAGGGGTGGGGGTGGAGGCTTCCTGCGTCCTCCTCACCTC ATGCCCACCCCCTGCCCTGCACGTCATGGGAGGGGGCTTGAAGCCAAAGAAAAATAACCC TTTGGTTTTTTTCTTCTGTATTTTTTTTTCTAAGAGAAGTTATTTTCTACAGTGGTTTTA TACTGAAGGAAAAACACAAGCAAAAAAAAAAAAAAGCATCTATCTCATCTATCTCAATCC TAATTTCTCCTCCCTTCCTTTTCCCTGCTTCCAGGAAACTCCACATCTGCCTTAAAACCA AAGAGGGCTTCCTCTAGAAGCCAAGGGAAAGGGGTGCTTTTATAGAGGCTAGCTTCTGCT TTTCTGCCCTGGCTGCTGCCCCCACCCCGGGGACCCTGTGACATGGTGCCTGAGAGGCAG GCATAGAGGCTTCTCCGCCAGCCTCCTCTGGACGGCAGGCTCACTGCCAGGCCAGCCTCC GAGAGGGAGAGAGAGAGAGAGAGGACAGCTTGAGCCGGGCCCCTGGGCTTGGCCTGCTGT GATTCCACTACACCTGGCTGAGGTTCCTCTGCCTGCCCCGCCCCCAGTCCCCACCCCTGC CCCCAGCCCCGGGGTGAGTCCATTCTCCCAGGTACCAGCTGCGCTTGCTTTTCTGTATTT TATTTAGACAAGAGATGGGAATGAGGTGGGAGGTGGAAGAAGGGAGAAGAAAGGTGAGTT TGAGCTGCCTTCCCTAGCTTTAGACCCTGGGTGGGCTCTGTGCAGTCACTGGAGGTTGAA GCCAAGTGGGGTGCTGGGAGGAGGGAGAGGGAGGTCACTGGAAAGGGGAGAGCCTGCTGG CACCCACCGTGGAGGAGGAAGGCAAGAGGGGGTGGAGGGGTGTGGCAGTGGTTTTGGCAA ACGCTAAAGAGCCCTTGCCTCCCCATTTCCCATCTGCACCCCTTCTCTCCTCCCCAAATC AATACACTAGTTGTTTCTA |
Protein Sequence | >4000 : length: 664 METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLR LRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARN TKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAK KQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRID SLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQ ELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRK LESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAM RKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASA SGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQN CSIM |