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LBR (lamin B receptor)

Identity

Alias (NCBI)C14SR
DHCR14B
LMN2R
PHA
PHASK
TDRD18
HGNC (Hugo) LBR
HGNC Alias symbDHCR14B
TDRD18
HGNC Alias nametudor domain containing 18
LocusID (NCBI) 3930
Atlas_Id 52162
Location 1q42.12  [Link to chromosome band 1q42]
Location_base_pair Starts at 225401502 and ends at 225428855 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    lamin B receptor
AliasesC14SR; DHCR14B; LMN2R; PHA; 
PHASK; TDRD18
GeneCards (Weizmann)LBR
Ensembl hg19 (Hinxton)ENSG00000143815 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143815 [Gene_View]  ENSG00000143815 [Sequence]  chr1:225401502-225428855 [Contig_View]  LBR [Vega]
ICGC DataPortalENSG00000143815
TCGA cBioPortalLBR
AceView (NCBI)LBR
Genatlas (Paris)LBR
SOURCE (Princeton)LBR
Genetics Home Reference (NIH)LBR
Genomic and cartography
GoldenPath hg38 (UCSC)LBR  -     chr1:225401502-225428855 -  1q42.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LBR  -     1q42.12   [Description]    (hg19-Feb_2009)
GoldenPathLBR - 1q42.12 [CytoView hg19]  LBR - 1q42.12 [CytoView hg38]
ImmunoBaseENSG00000143815
Genome Data Viewer NCBILBR [Mapview hg19]  
OMIM169400   215140   600024   613471   618019   
Gene and transcription
Genbank (Entrez)AB209514 AK125116 AK222834 AK303589 AK312258
RefSeq transcript (Entrez)NM_002296 NM_194442
Consensus coding sequences : CCDS (NCBI)LBR
Gene ExpressionLBR [ NCBI-GEO ]   LBR [ EBI - ARRAY_EXPRESS ]   LBR [ SEEK ]   LBR [ MEM ]
Gene Expression Viewer (FireBrowse)LBR [ Firebrowse - Broad ]
GenevisibleExpression of LBR 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
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
PDB (RSDB)2DIG   
PDB Europe2DIG   
PDB (PDBSum)2DIG   
PDB (IMB)2DIG   
Structural Biology KnowledgeBase2DIG   
SCOP (Structural Classification of Proteins)2DIG   
CATH (Classification of proteins structures)2DIG   
SuperfamilyQ14739
AlphaFold pdb e-kbQ14739   
Human Protein Atlas [tissue]ENSG00000143815-LBR [tissue]
HPRD02488
Protein Interaction databases
DIP (DOE-UCLA)Q14739
IntAct (EBI)Q14739
BioGRIDLBR
STRING (EMBL)LBR
ZODIACLBR
Ontologies - Pathways
QuickGOQ14739
Ontology : AmiGODNA binding  RNA binding  protein binding  lamin binding  nucleus  nuclear envelope  nuclear inner membrane  integral component of nuclear inner membrane  cytoplasm  endoplasmic reticulum membrane  cholesterol biosynthetic process  cholesterol biosynthetic process  cholesterol biosynthetic process  cholesterol biosynthetic process  mitotic nuclear membrane reassembly  membrane  integral component of membrane  sterol biosynthetic process  oxidoreductase activity, acting on the CH-CH group of donors  neutrophil differentiation  nuclear membrane  delta14-sterol reductase activity  delta14-sterol reductase activity  chromo shadow domain binding  NADPH binding  
Ontology : EGO-EBIDNA binding  RNA binding  protein binding  lamin binding  nucleus  nuclear envelope  nuclear inner membrane  integral component of nuclear inner membrane  cytoplasm  endoplasmic reticulum membrane  cholesterol biosynthetic process  cholesterol biosynthetic process  cholesterol biosynthetic process  cholesterol biosynthetic process  mitotic nuclear membrane reassembly  membrane  integral component of membrane  sterol biosynthetic process  oxidoreductase activity, acting on the CH-CH group of donors  neutrophil differentiation  nuclear membrane  delta14-sterol reductase activity  delta14-sterol reductase activity  chromo shadow domain binding  NADPH binding  
NDEx NetworkLBR
Atlas of Cancer Signalling NetworkLBR
Wikipedia pathwaysLBR
Orthology - Evolution
OrthoDB3930
GeneTree (enSembl)ENSG00000143815
Phylogenetic Trees/Animal Genes : TreeFamLBR
Homologs : HomoloGeneLBR
Homology/Alignments : Family Browser (UCSC)LBR
Gene fusions - Rearrangements
Fusion : QuiverLBR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLBR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LBR
dbVarLBR
ClinVarLBR
MonarchLBR
1000_GenomesLBR 
Exome Variant ServerLBR
GNOMAD BrowserENSG00000143815
Varsome BrowserLBR
ACMGLBR variants
VarityQ14739
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]  
Somatic Mutations in Cancer : COSMIC3DLBR
Mutations and Diseases : HGMDLBR
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaLBR
DgiDB (Drug Gene Interaction Database)LBR
DoCM (Curated mutations)LBR
CIViC (Clinical Interpretations of Variants in Cancer)LBR
Cancer3DLBR
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM169400    215140    600024    613471    618019   
Orphanet1632    23566    8608   
DisGeNETLBR
MedgenLBR
Genetic Testing Registry LBR
NextProtQ14739 [Medical]
GENETestsLBR
Target ValidationLBR
Huge Navigator LBR [HugePedia]
ClinGenLBR (curated)
Clinical trials, drugs, therapy
MyCancerGenomeLBR
Protein Interactions : CTDLBR
Pharm GKB GenePA30304
PharosQ14739
Clinical trialLBR
Miscellaneous
canSAR (ICR)LBR
HarmonizomeLBR
DataMed IndexLBR
Probes
Litterature
PubMed131 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXLBR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:15:39 CEST 2021

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