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LBR (lamin B receptor)

Identity

Other namesDHCR14B
LMN2R
PHA
TDRD18
HGNC (Hugo) LBR
LocusID (NCBI) 3930
Location 1q42.12
Location_base_pair Starts at 225589204 and ends at 225615815 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

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)LBR   6518
Cards
Entrez_Gene (NCBI)LBR  3930  lamin B receptor
GeneCards (Weizmann)LBR
Ensembl (Hinxton)ENSG00000143815 [Gene_View]  chr1:225589204-225615815 [Contig_View]  LBR [Vega]
ICGC DataPortalENSG00000143815
cBioPortalLBR
AceView (NCBI)LBR
Genatlas (Paris)LBR
WikiGenes3930
SOURCE (Princeton)NM_002296 NM_194442
Genomic and cartography
GoldenPath (UCSC)LBR  -  1q42.12   chr1:225589204-225615815 -  1q42.12   [Description]    (hg19-Feb_2009)
EnsemblLBR - 1q42.12 [CytoView]
Mapping of homologs : NCBILBR [Mapview]
OMIM169400   215140   600024   613471   
Gene and transcription
Genbank (Entrez)AB209514 AK125116 AK222834 AK303589 AK312258
RefSeq transcript (Entrez)NM_002296 NM_194442
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_008099 NT_167186 NW_001838543 NW_004929294
Consensus coding sequences : CCDS (NCBI)LBR
Cluster EST : UnigeneHs.735694 [ NCBI ]
CGAP (NCI)Hs.735694
Alternative Splicing : Fast-db (Paris)GSHG0002987
Alternative Splicing GalleryENSG00000143815
Gene ExpressionLBR [ NCBI-GEO ]     LBR [ SEEK ]   LBR [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14739 (Uniprot)
NextProtQ14739  [Medical]
With graphics : InterProQ14739
Splice isoforms : SwissVarQ14739 (Swissvar)
Domaine pattern : Prosite (Expaxy)STEROL_REDUCT_1 (PS01017)    STEROL_REDUCT_2 (PS01018)   
Domains : Interpro (EBI)Ergosterol_biosynth_ERG4_ERG24 [organisation]   Lamin-B_rcpt_of_tudor [organisation]   Sterol_reductase_CS [organisation]   Tudor [organisation]  
Related proteins : CluSTrQ14739
Domain families : Pfam (Sanger)ERG4_ERG24 (PF01222)    LBR_tudor (PF09465)   
Domain families : Pfam (NCBI)pfam01222    pfam09465   
Domain families : Smart (EMBL)TUDOR (SM00333)  
DMDM Disease mutations3930
Blocks (Seattle)Q14739
PDB (SRS)2DIG   
PDB (PDBSum)2DIG   
PDB (IMB)2DIG   
PDB (RSDB)2DIG   
Human Protein AtlasENSG00000143815 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ14739
HPRD02488
IPIIPI00292135   IPI00645733   IPI00647596   IPI00646282   IPI00640536   
Protein Interaction databases
DIP (DOE-UCLA)Q14739
IntAct (EBI)Q14739
FunCoupENSG00000143815
BioGRIDLBR
InParanoidQ14739
Interologous Interaction database Q14739
IntegromeDBLBR
STRING (EMBL)LBR
Ontologies - Pathways
Ontology : AmiGODNA binding  protein binding  lamin binding  nuclear envelope  integral component of nuclear inner membrane  mitochondrion  cholesterol biosynthetic process  membrane  integral component of membrane  oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor  nuclear membrane  small molecule metabolic process  poly(A) RNA binding  oxidation-reduction process  chromo shadow domain binding  
Ontology : EGO-EBIDNA binding  protein binding  lamin binding  nuclear envelope  integral component of nuclear inner membrane  mitochondrion  cholesterol biosynthetic process  membrane  integral component of membrane  oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor  nuclear membrane  small molecule metabolic process  poly(A) RNA binding  oxidation-reduction process  chromo shadow domain binding  
Protein Interaction DatabaseLBR
Wikipedia pathwaysLBR
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)LBR
snp3D : Map Gene to Disease3930
SNP (GeneSNP Utah)LBR
SNP : HGBaseLBR
Genetic variants : HAPMAPLBR
Exome VariantLBR
1000_GenomesLBR 
ICGC programENSG00000143815 
Somatic Mutations in Cancer : COSMICLBR 
CONAN: Copy Number AnalysisLBR 
Mutations and Diseases : HGMDLBR
Mutations and Diseases : intOGenLBR
Genomic VariantsLBR  LBR [DGVbeta]
dbVarLBR
ClinVarLBR
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM169400    215140    600024    613471   
MedgenLBR
GENETestsLBR
Disease Genetic AssociationLBR
Huge Navigator LBR [HugePedia]  LBR [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneLBR
Homology/Alignments : Family Browser (UCSC)LBR
Phylogenetic Trees/Animal Genes : TreeFamLBR
Chemical/Protein Interactions : CTD3930
Chemical/Pharm GKB GenePA30304
Clinical trialLBR
Cancer Resource (Charite)ENSG00000143815
Other databases
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
CoreMineLBR
iHOPLBR
OncoSearchLBR
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 : Mon Sep 22 18:59:01 CEST 2014

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