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LMNA (lamin A/C)

Identity

Other namesCDCD1
CDDC
CMD1A
CMT2B1
EMD2
FPL
FPLD
FPLD2
HGPS
IDC
LDP1
LFP
LGMD1B
LMN1
LMNC
LMNL1
PRO1
HGNC (Hugo) LMNA
LocusID (NCBI) 4000
Atlas_Id 43997
Location 1q22
Location_base_pair Starts at 156095908 and ends at 156109880 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABCA6 (17q24.2) / LMNA (1q22)CIC (19q13.2) / LMNA (1q22)EIF4A2 (3q27.3) / LMNA (1q22)
FOS (14q24.3) / LMNA (1q22)KIF25-AS1 (6q27) / LMNA (1q22)LMNA (1q22) / ALK (2p23.2)
LMNA (1q22) / FOSB (19q13.32)LMNA (1q22) / GAP43 (3q13.31)LMNA (1q22) / LMNA (1q22)
LMNA (1q22) / MRAS (3q22.3)LMNA (1q22) / NTRK1 (1q23.1)LMNA (1q22) / RAB4B (19q13.2)
LMNA (1q22) / RAF1 (3p25.2)LMNA (1q22) / RCAN2 (6p21.1)LMNA (1q22) / SYT11 (1q22)
RCOR1 (14q32.31) / LMNA (1q22)SLC25A44 (1q22) / LMNA (1q22)UBC (12q24.31) / LMNA (1q22)
LMNA 1q22 / NTRK1 1q23.1CIC 19q13.2 / LMNA 1q22LMNA 1q22 / RAB4B 19q13.2
LMNA 1q22 / SYT11 1q22

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)LMNA   6636
Cards
Entrez_Gene (NCBI)LMNA  4000  lamin A/C
GeneCards (Weizmann)LMNA
Ensembl hg19 (Hinxton)ENSG00000160789 [Gene_View]  chr1:156095908-156109880 [Contig_View]  LMNA [Vega]
Ensembl hg38 (Hinxton)ENSG00000160789 [Gene_View]  chr1:156095908-156109880 [Contig_View]  LMNA [Vega]
ICGC DataPortalENSG00000160789
TCGA cBioPortalLMNA
AceView (NCBI)LMNA
Genatlas (Paris)LMNA
WikiGenes4000
SOURCE (Princeton)LMNA
Genomic and cartography
GoldenPath hg19 (UCSC)LMNA  -     chr1:156095908-156109880 +  1q22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LMNA  -     1q22   [Description]    (hg38-Dec_2013)
EnsemblLMNA - 1q22 [CytoView hg19]  LMNA - 1q22 [CytoView hg38]
Mapping of homologs : NCBILMNA [Mapview hg19]  LMNA [Mapview hg38]
OMIM115200   150330   151660   159001   176670   181350   212112   248370   275210   605588   610140   613205   616516   
Gene and transcription
Genbank (Entrez)AA558657 AF381029 AI872233 AK026584 AK056143
RefSeq transcript (Entrez)NM_001257374 NM_001282624 NM_001282625 NM_001282626 NM_005572 NM_170707 NM_170708
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_008692 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)LMNA
Cluster EST : UnigeneHs.733671 [ NCBI ]
CGAP (NCI)Hs.733671
Alternative Splicing : Fast-db (Paris)GSHG0001037
Alternative Splicing GalleryENSG00000160789
Gene ExpressionLMNA [ NCBI-GEO ]   LMNA [ EBI - ARRAY_EXPRESS ]   LMNA [ SEEK ]   LMNA [ MEM ]
Gene Expression Viewer (FireBrowse)LMNA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)4000
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02545 (Uniprot)
NextProtP02545  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02545
Splice isoforms : SwissVarP02545 (Swissvar)
PhosPhoSitePlusP02545
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)IF    Intermediate_filament_CS    Lamin_tail_dom   
Domain families : Pfam (Sanger)Filament (PF00038)    LTD (PF00932)   
Domain families : Pfam (NCBI)pfam00038    pfam00932   
DMDM Disease mutations4000
Blocks (Seattle)LMNA
PDB (SRS)1IFR    1IVT    1X8Y    2XV5    2YPT    3GEF    3V4Q    3V4W    3V5B   
PDB (PDBSum)1IFR    1IVT    1X8Y    2XV5    2YPT    3GEF    3V4Q    3V4W    3V5B   
PDB (IMB)1IFR    1IVT    1X8Y    2XV5    2YPT    3GEF    3V4Q    3V4W    3V5B   
PDB (RSDB)1IFR    1IVT    1X8Y    2XV5    2YPT    3GEF    3V4Q    3V4W    3V5B   
Structural Biology KnowledgeBase1IFR    1IVT    1X8Y    2XV5    2YPT    3GEF    3V4Q    3V4W    3V5B   
SCOP (Structural Classification of Proteins)1IFR    1IVT    1X8Y    2XV5    2YPT    3GEF    3V4Q    3V4W    3V5B   
CATH (Classification of proteins structures)1IFR    1IVT    1X8Y    2XV5    2YPT    3GEF    3V4Q    3V4W    3V5B   
SuperfamilyP02545
Human Protein AtlasENSG00000160789
Peptide AtlasP02545
HPRD01035
IPIIPI00021405   IPI00216952   IPI00216953   IPI00655812   IPI01018077   IPI00514204   IPI00644087   IPI00514320   IPI00514817   IPI00910241   IPI00966098   IPI00965567   
Protein Interaction databases
DIP (DOE-UCLA)P02545
IntAct (EBI)P02545
FunCoupENSG00000160789
BioGRIDLMNA
STRING (EMBL)LMNA
ZODIACLMNA
Ontologies - Pathways
QuickGOP02545
Ontology : AmiGOstructural molecule activity  structural molecule activity  protein binding  nucleus  nuclear envelope  nuclear envelope  lamin filament  lamin filament  nuclear lamina  nucleoplasm  nucleoplasm  cytoplasm  cytosol  intermediate filament  mitotic nuclear envelope disassembly  mitotic nuclear envelope reassembly  spermatogenesis  muscle organ development  protein phosphatase 1 binding  response to mechanical stimulus  nuclear matrix  nuclear speck  regulation of cell migration  establishment or maintenance of microtubule cytoskeleton polarity  nuclear membrane  protein localization to nucleus  sterol regulatory element binding protein import into nucleus  IRE1-mediated unfolded protein response  positive regulation of osteoblast differentiation  perinuclear region of cytoplasm  ventricular cardiac muscle cell development  cellular response to hypoxia  negative regulation of release of cytochrome c from mitochondria  positive regulation of cell aging  regulation of protein localization to nucleus  negative regulation of adipose tissue development  negative regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBIstructural molecule activity  structural molecule activity  protein binding  nucleus  nuclear envelope  nuclear envelope  lamin filament  lamin filament  nuclear lamina  nucleoplasm  nucleoplasm  cytoplasm  cytosol  intermediate filament  mitotic nuclear envelope disassembly  mitotic nuclear envelope reassembly  spermatogenesis  muscle organ development  protein phosphatase 1 binding  response to mechanical stimulus  nuclear matrix  nuclear speck  regulation of cell migration  establishment or maintenance of microtubule cytoskeleton polarity  nuclear membrane  protein localization to nucleus  sterol regulatory element binding protein import into nucleus  IRE1-mediated unfolded protein response  positive regulation of osteoblast differentiation  perinuclear region of cytoplasm  ventricular cardiac muscle cell development  cellular response to hypoxia  negative regulation of release of cytochrome c from mitochondria  positive regulation of cell aging  regulation of protein localization to nucleus  negative regulation of adipose tissue development  negative regulation of extrinsic apoptotic signaling pathway  
Pathways : BIOCARTAHIV-I Nef: negative effector of Fas and TNF [Genes]    FAS signaling pathway ( CD95 ) [Genes]    Caspase Cascade in Apoptosis [Genes]    Induction of apoptosis through DR3 and DR4/5 Death Receptors [Genes]    TNFR1 Signaling Pathway [Genes]   
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
NDEx Network
Atlas of Cancer Signalling NetworkLMNA
Wikipedia pathwaysLMNA
Orthology - Evolution
OrthoDB4000
GeneTree (enSembl)ENSG00000160789
Phylogenetic Trees/Animal Genes : TreeFamLMNA
Homologs : HomoloGeneLMNA
Homology/Alignments : Family Browser (UCSC)LMNA
Gene fusions - Rearrangements
Fusion: TCGACIC 19q13.2 LMNA 1q22 BRCA
Fusion: TCGALMNA 1q22 RAB4B 19q13.2 SKCM
Fusion: TCGALMNA 1q22 SYT11 1q22 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerLMNA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LMNA
dbVarLMNA
ClinVarLMNA
1000_GenomesLMNA 
Exome Variant ServerLMNA
ExAC (Exome Aggregation Consortium)LMNA (select the gene name)
SNP (GeneSNP Utah)LMNA
SNP : HGBaseLMNA
Genetic variants : HAPMAPLMNA
Genomic Variants (DGV)LMNA [DGVbeta]
Mutations
ICGC Data PortalLMNA 
TCGA Data PortalLMNA 
Broad Tumor PortalLMNA
OASIS PortalLMNA [ Somatic mutations - Copy number]
Cancer Gene: CensusLMNA 
Somatic Mutations in Cancer : COSMICLMNA 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch LMNA
DgiDB (Drug Gene Interaction Database)LMNA
DoCM (Curated mutations)LMNA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LMNA (select a term)
intoGenLMNA
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:156095908-156109880
CONAN: Copy Number AnalysisLMNA 
Mutations and Diseases : HGMDLMNA
OMIM115200    150330    151660    159001    176670    181350    212112    248370    275210    605588    610140    613205    616516   
MedgenLMNA
Genetic Testing Registry LMNA
NextProtP02545 [Medical]
TSGene4000
GENETestsLMNA
Huge Navigator LMNA [HugePedia]  LMNA [HugeCancerGEM]
snp3D : Map Gene to Disease4000
BioCentury BCIQLMNA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4000
Chemical/Pharm GKB GenePA231
Clinical trialLMNA
Miscellaneous
canSAR (ICR)LMNA (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLMNA
GoPubMedLMNA
iHOPLMNA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 16 17:51:12 CEST 2016

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