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LBR (lamin B receptor)

Identity

Alias_symbol (synonym)DHCR14B
TDRD18
Other aliasLMN2R
PHA
HGNC (Hugo) LBR
LocusID (NCBI) 3930
Atlas_Id 52162
Location 1q42.12  [Link to chromosome band 1q42]
Location_base_pair Starts at 225401502 and ends at 225428113 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SLC25A3 (12q23.1) / LBR (1q42.12)

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(7;9)(q11;p12) PAX5/POM121


External links

Nomenclature
HGNC (Hugo)LBR   6518
Cards
Entrez_Gene (NCBI)LBR  3930  lamin B receptor
AliasesDHCR14B; LMN2R; PHA; TDRD18
GeneCards (Weizmann)LBR
Ensembl hg19 (Hinxton)ENSG00000143815 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143815 [Gene_View]  chr1:225401502-225428113 [Contig_View]  LBR [Vega]
ICGC DataPortalENSG00000143815
TCGA cBioPortalLBR
AceView (NCBI)LBR
Genatlas (Paris)LBR
WikiGenes3930
SOURCE (Princeton)LBR
Genetics Home Reference (NIH)LBR
Genomic and cartography
GoldenPath hg38 (UCSC)LBR  -     chr1:225401502-225428113 -  1q42.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LBR  -     1q42.12   [Description]    (hg19-Feb_2009)
EnsemblLBR - 1q42.12 [CytoView hg19]  LBR - 1q42.12 [CytoView hg38]
Mapping of homologs : NCBILBR [Mapview hg19]  LBR [Mapview hg38]
OMIM169400   215140   600024   613471   
Gene and transcription
Genbank (Entrez)AB209514 AK125116 AK222834 AK303589 AK312258
RefSeq transcript (Entrez)NM_002296 NM_194442
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LBR
Cluster EST : UnigeneHs.735694 [ NCBI ]
CGAP (NCI)Hs.735694
Alternative Splicing GalleryENSG00000143815
Gene ExpressionLBR [ NCBI-GEO ]   LBR [ EBI - ARRAY_EXPRESS ]   LBR [ SEEK ]   LBR [ MEM ]
Gene Expression Viewer (FireBrowse)LBR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3930
GTEX Portal (Tissue expression)LBR
Human Protein AtlasENSG00000143815-LBR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14739   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14739  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14739
Splice isoforms : SwissVarQ14739
PhosPhoSitePlusQ14739
Domaine pattern : Prosite (Expaxy)STEROL_REDUCT_1 (PS01017)    STEROL_REDUCT_2 (PS01018)   
Domains : Interpro (EBI)Ergosterol_biosynth_ERG4_ERG24    Lamin-B_rcpt_of_tudor    Sterol_reductase_CS    Tudor   
Domain families : Pfam (Sanger)ERG4_ERG24 (PF01222)    LBR_tudor (PF09465)   
Domain families : Pfam (NCBI)pfam01222    pfam09465   
Domain families : Smart (EMBL)TUDOR (SM00333)  
Conserved Domain (NCBI)LBR
DMDM Disease mutations3930
Blocks (Seattle)LBR
PDB (SRS)2DIG   
PDB (PDBSum)2DIG   
PDB (IMB)2DIG   
PDB (RSDB)2DIG   
Structural Biology KnowledgeBase2DIG   
SCOP (Structural Classification of Proteins)2DIG   
CATH (Classification of proteins structures)2DIG   
SuperfamilyQ14739
Human Protein Atlas [tissue]ENSG00000143815-LBR [tissue]
Peptide AtlasQ14739
HPRD02488
IPIIPI00292135   IPI00645733   IPI00647596   IPI00646282   IPI00640536   
Protein Interaction databases
DIP (DOE-UCLA)Q14739
IntAct (EBI)Q14739
FunCoupENSG00000143815
BioGRIDLBR
STRING (EMBL)LBR
ZODIACLBR
Ontologies - Pathways
QuickGOQ14739
Ontology : AmiGODNA binding  RNA binding  protein binding  lamin binding  nuclear envelope  integral component of nuclear inner membrane  cholesterol biosynthetic process  membrane  integral component of membrane  sterol biosynthetic process  oxidoreductase activity, acting on the CH-CH group of donors  integral component of endoplasmic reticulum membrane  nuclear membrane  delta14-sterol reductase activity  oxidation-reduction process  chromo shadow domain binding  
Ontology : EGO-EBIDNA binding  RNA binding  protein binding  lamin binding  nuclear envelope  integral component of nuclear inner membrane  cholesterol biosynthetic process  membrane  integral component of membrane  sterol biosynthetic process  oxidoreductase activity, acting on the CH-CH group of donors  integral component of endoplasmic reticulum membrane  nuclear membrane  delta14-sterol reductase activity  oxidation-reduction process  chromo shadow domain binding  
NDEx NetworkLBR
Atlas of Cancer Signalling NetworkLBR
Wikipedia pathwaysLBR
Orthology - Evolution
OrthoDB3930
GeneTree (enSembl)ENSG00000143815
Phylogenetic Trees/Animal Genes : TreeFamLBR
HOVERGENQ14739
HOGENOMQ14739
Homologs : HomoloGeneLBR
Homology/Alignments : Family Browser (UCSC)LBR
Gene fusions - Rearrangements
Tumor Fusion PortalLBR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLBR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LBR
dbVarLBR
ClinVarLBR
1000_GenomesLBR 
Exome Variant ServerLBR
ExAC (Exome Aggregation Consortium)ENSG00000143815
GNOMAD BrowserENSG00000143815
Genetic variants : HAPMAP3930
Genomic Variants (DGV)LBR [DGVbeta]
DECIPHERLBR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLBR 
Mutations
ICGC Data PortalLBR 
TCGA Data PortalLBR 
Broad Tumor PortalLBR
OASIS PortalLBR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLBR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLBR
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch LBR
DgiDB (Drug Gene Interaction Database)LBR
DoCM (Curated mutations)LBR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LBR (select a term)
intoGenLBR
Cancer3DLBR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM169400    215140    600024    613471   
Orphanet1632    23566    8608   
DisGeNETLBR
MedgenLBR
Genetic Testing Registry LBR
NextProtQ14739 [Medical]
TSGene3930
GENETestsLBR
Target ValidationLBR
Huge Navigator LBR [HugePedia]
snp3D : Map Gene to Disease3930
BioCentury BCIQLBR
ClinGenLBR (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3930
Chemical/Pharm GKB GenePA30304
Clinical trialLBR
Miscellaneous
canSAR (ICR)LBR (select the gene name)
Probes
Litterature
PubMed67 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLBR
EVEXLBR
GoPubMedLBR
iHOPLBR
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 : Tue Nov 21 14:19:35 CET 2017

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