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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
Location 1q22
Location_base_pair Starts at 156095908 and ends at 156109880 bp from pter ( according to hg19-Feb_2009)
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 (Hinxton)ENSG00000160789 [Gene_View]  chr1:156095908-156109880 [Contig_View]  LMNA [Vega]
ICGC DataPortalENSG00000160789
cBioPortalLMNA
AceView (NCBI)LMNA
Genatlas (Paris)LMNA
WikiGenes4000
SOURCE (Princeton)NM_001257374 NM_001282624 NM_001282625 NM_001282626 NM_005572 NM_170707 NM_170708
Genomic and cartography
GoldenPath (UCSC)LMNA  -  1q22   chr1:156095908-156109880 +  1q22   [Description]    (hg19-Feb_2009)
EnsemblLMNA - 1q22 [CytoView]
Mapping of homologs : NCBILMNA [Mapview]
OMIM115200   150330   151660   159001   176670   181350   212112   248370   275210   605588   610140   613205   
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)AC_000133 NC_000001 NC_018912 NG_008692 NT_004487 NW_001838531 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 [ SEEK ]   LMNA [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02545 (Uniprot)
NextProtP02545  [Medical]
With graphics : InterProP02545
Splice isoforms : SwissVarP02545 (Swissvar)
Domaine pattern : Prosite (Expaxy)IF (PS00226)   
Domains : Interpro (EBI)IF [organisation]   Intermediate_filament_CS [organisation]   Lamin_tail_dom [organisation]  
Related proteins : CluSTrP02545
Domain families : Pfam (Sanger)Filament (PF00038)    LTD (PF00932)   
Domain families : Pfam (NCBI)pfam00038    pfam00932   
DMDM Disease mutations4000
Blocks (Seattle)P02545
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   
Human Protein AtlasENSG00000160789 [gene] [tissue] [antibody] [cell] [cancer]
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
InParanoidP02545
Interologous Interaction database P02545
IntegromeDBLMNA
STRING (EMBL)LMNA
Ontologies - Pathways
Ontology : AmiGOmitotic cell cycle  structural molecule activity  structural molecule activity  protein binding  nucleus  nuclear envelope  nuclear envelope  lamin filament  lamin filament  nuclear lamina  nucleoplasm  nucleolus  cytoplasm  cytosol  intermediate filament  apoptotic process  cellular component disassembly involved in execution phase of apoptosis  activation of signaling protein activity involved in unfolded protein response  mitotic nuclear envelope disassembly  mitotic nuclear envelope reassembly  muscle organ development  nuclear speck  regulation of cell migration  establishment or maintenance of microtubule cytoskeleton polarity  endoplasmic reticulum unfolded protein response  protein localization to nucleus  sterol regulatory element binding protein import into nucleus  cellular protein metabolic process  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  negative regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBImitotic cell cycle  structural molecule activity  structural molecule activity  protein binding  nucleus  nuclear envelope  nuclear envelope  lamin filament  lamin filament  nuclear lamina  nucleoplasm  nucleolus  cytoplasm  cytosol  intermediate filament  apoptotic process  cellular component disassembly involved in execution phase of apoptosis  activation of signaling protein activity involved in unfolded protein response  mitotic nuclear envelope disassembly  mitotic nuclear envelope reassembly  muscle organ development  nuclear speck  regulation of cell migration  establishment or maintenance of microtubule cytoskeleton polarity  endoplasmic reticulum unfolded protein response  protein localization to nucleus  sterol regulatory element binding protein import into nucleus  cellular protein metabolic process  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  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   
Protein Interaction DatabaseLMNA
Wikipedia pathwaysLMNA
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)LMNA
snp3D : Map Gene to Disease4000
SNP (GeneSNP Utah)LMNA
SNP : HGBaseLMNA
Genetic variants : HAPMAPLMNA
Exome VariantLMNA
1000_GenomesLMNA 
ICGC programENSG00000160789 
Somatic Mutations in Cancer : COSMICLMNA 
CONAN: Copy Number AnalysisLMNA 
Mutations and Diseases : HGMDLMNA
Genomic VariantsLMNA  LMNA [DGVbeta]
dbVarLMNA
ClinVarLMNA
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM115200    150330    151660    159001    176670    181350    212112    248370    275210    605588    610140    613205   
MedgenLMNA
GENETestsLMNA
Disease Genetic AssociationLMNA
Huge Navigator LMNA [HugePedia]  LMNA [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneLMNA
Homology/Alignments : Family Browser (UCSC)LMNA
Phylogenetic Trees/Animal Genes : TreeFamLMNA
Chemical/Protein Interactions : CTD4000
Chemical/Pharm GKB GenePA231
Clinical trialLMNA
Cancer Resource (Charite)ENSG00000160789
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineLMNA
iHOPLMNA
OncoSearchLMNA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 14:02:28 CEST 2014

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