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LRP8 (LDL receptor related protein 8)

Identity

Alias_nameslow density lipoprotein receptor-related protein 8, apolipoprotein e receptor
Alias_symbol (synonym)APOER2
MCI1
LRP-8
HSZ75190
Other alias
HGNC (Hugo) LRP8
LocusID (NCBI) 7804
Atlas_Id 68592
Location 1p32.3  [Link to chromosome band 1p32]
Location_base_pair Starts at 53242370 and ends at 53328149 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LRP8 (1p32.3) / ACTG1 (17q25.3)LRP8 (1p32.3) / HSPG2 (1p36.12)LRP8 (1p32.3) / PAX8 (2q13)
LRP8 (1p32.3) / RAD51C (17q22)LRP8 (1p32.3) / TMEM217 (6p21.2)LRP8 (1p32.3) / USP24 (1p32.3)
PATZ1 (22q12.2) / LRP8 (1p32.3)LRP8 RAD51CLRP8 TMEM217
LRP8 USP24LRP8 PAX8

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)LRP8   6700
Cards
Entrez_Gene (NCBI)LRP8  7804  LDL receptor related protein 8
AliasesAPOER2; HSZ75190; LRP-8; MCI1
GeneCards (Weizmann)LRP8
Ensembl hg19 (Hinxton)ENSG00000157193 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157193 [Gene_View]  chr1:53242370-53328149 [Contig_View]  LRP8 [Vega]
ICGC DataPortalENSG00000157193
TCGA cBioPortalLRP8
AceView (NCBI)LRP8
Genatlas (Paris)LRP8
WikiGenes7804
SOURCE (Princeton)LRP8
Genetics Home Reference (NIH)LRP8
Genomic and cartography
GoldenPath hg38 (UCSC)LRP8  -     chr1:53242370-53328149 -  1p32.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRP8  -     1p32.3   [Description]    (hg19-Feb_2009)
EnsemblLRP8 - 1p32.3 [CytoView hg19]  LRP8 - 1p32.3 [CytoView hg38]
Mapping of homologs : NCBILRP8 [Mapview hg19]  LRP8 [Mapview hg38]
OMIM602600   608446   
Gene and transcription
Genbank (Entrez)AA775280 AK096482 AK122887 AL119002 BC006443
RefSeq transcript (Entrez)NM_001018054 NM_004631 NM_017522 NM_033300
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LRP8
Cluster EST : UnigeneHs.280387 [ NCBI ]
CGAP (NCI)Hs.280387
Alternative Splicing GalleryENSG00000157193
Gene ExpressionLRP8 [ NCBI-GEO ]   LRP8 [ EBI - ARRAY_EXPRESS ]   LRP8 [ SEEK ]   LRP8 [ MEM ]
Gene Expression Viewer (FireBrowse)LRP8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7804
GTEX Portal (Tissue expression)LRP8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14114   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14114  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14114
Splice isoforms : SwissVarQ14114
PhosPhoSitePlusQ14114
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    LDLRA_1 (PS01209)    LDLRA_2 (PS50068)    LDLRB (PS51120)   
Domains : Interpro (EBI)6-blade_b-propeller_TolB-like    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    LDLR_class-A_CS    LDLR_classB_rpt    LDrepeatLR_classA_rpt   
Domain families : Pfam (Sanger)Ldl_recept_a (PF00057)    Ldl_recept_b (PF00058)   
Domain families : Pfam (NCBI)pfam00057    pfam00058   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  LDLa (SM00192)  LY (SM00135)  
Conserved Domain (NCBI)LRP8
DMDM Disease mutations7804
Blocks (Seattle)LRP8
PDB (SRS)3A7Q   
PDB (PDBSum)3A7Q   
PDB (IMB)3A7Q   
PDB (RSDB)3A7Q   
Structural Biology KnowledgeBase3A7Q   
SCOP (Structural Classification of Proteins)3A7Q   
CATH (Classification of proteins structures)3A7Q   
SuperfamilyQ14114
Human Protein AtlasENSG00000157193
Peptide AtlasQ14114
HPRD04002
IPIIPI00005774   IPI00410272   IPI00384247   IPI00410273   IPI00978783   IPI00975777   IPI00976882   IPI00977537   IPI00980529   
Protein Interaction databases
DIP (DOE-UCLA)Q14114
IntAct (EBI)Q14114
FunCoupENSG00000157193
BioGRIDLRP8
STRING (EMBL)LRP8
ZODIACLRP8
Ontologies - Pathways
QuickGOQ14114
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  retinoid metabolic process  transmembrane signaling receptor activity  low-density lipoprotein receptor activity  calcium ion binding  protein binding  extracellular region  microtubule associated complex  plasma membrane  caveola  proteolysis  lipid metabolic process  endocytosis  receptor-mediated endocytosis  signal transduction  high-density lipoprotein particle binding  postsynaptic density  membrane  integral component of membrane  cytokine-mediated signaling pathway  kinesin binding  ammon gyrus development  cerebral cortex development  very-low-density lipoprotein particle receptor activity  axon  dendrite  positive regulation of CREB transcription factor activity  apolipoprotein binding  reelin receptor activity  reelin-mediated signaling pathway  response to drug  neuronal cell body  receptor complex  positive regulation of peptidyl-tyrosine phosphorylation  modulation of synaptic transmission  positive regulation of dendritic spine morphogenesis  positive regulation of protein tyrosine kinase activity  cellular response to growth factor stimulus  cellular response to cholesterol  positive regulation of dendrite development  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  retinoid metabolic process  transmembrane signaling receptor activity  low-density lipoprotein receptor activity  calcium ion binding  protein binding  extracellular region  microtubule associated complex  plasma membrane  caveola  proteolysis  lipid metabolic process  endocytosis  receptor-mediated endocytosis  signal transduction  high-density lipoprotein particle binding  postsynaptic density  membrane  integral component of membrane  cytokine-mediated signaling pathway  kinesin binding  ammon gyrus development  cerebral cortex development  very-low-density lipoprotein particle receptor activity  axon  dendrite  positive regulation of CREB transcription factor activity  apolipoprotein binding  reelin receptor activity  reelin-mediated signaling pathway  response to drug  neuronal cell body  receptor complex  positive regulation of peptidyl-tyrosine phosphorylation  modulation of synaptic transmission  positive regulation of dendritic spine morphogenesis  positive regulation of protein tyrosine kinase activity  cellular response to growth factor stimulus  cellular response to cholesterol  positive regulation of dendrite development  
Pathways : BIOCARTALissencephaly gene (LIS1) in neuronal migration and development [Genes]    Reelin Signaling Pathway [Genes]   
NDEx NetworkLRP8
Atlas of Cancer Signalling NetworkLRP8
Wikipedia pathwaysLRP8
Orthology - Evolution
OrthoDB7804
GeneTree (enSembl)ENSG00000157193
Phylogenetic Trees/Animal Genes : TreeFamLRP8
HOVERGENQ14114
HOGENOMQ14114
Homologs : HomoloGeneLRP8
Homology/Alignments : Family Browser (UCSC)LRP8
Gene fusions - Rearrangements
Fusion: TCGALRP8 RAD51C
Fusion: TCGALRP8 TMEM217
Fusion: TCGALRP8 USP24
Fusion: TCGALRP8 PAX8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRP8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRP8
dbVarLRP8
ClinVarLRP8
1000_GenomesLRP8 
Exome Variant ServerLRP8
ExAC (Exome Aggregation Consortium)LRP8 (select the gene name)
Genetic variants : HAPMAP7804
Genomic Variants (DGV)LRP8 [DGVbeta]
DECIPHERLRP8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLRP8 
Mutations
ICGC Data PortalLRP8 
TCGA Data PortalLRP8 
Broad Tumor PortalLRP8
OASIS PortalLRP8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRP8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRP8
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch LRP8
DgiDB (Drug Gene Interaction Database)LRP8
DoCM (Curated mutations)LRP8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRP8 (select a term)
intoGenLRP8
Cancer3DLRP8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602600    608446   
Orphanet
MedgenLRP8
Genetic Testing Registry LRP8
NextProtQ14114 [Medical]
TSGene7804
GENETestsLRP8
Target ValidationLRP8
Huge Navigator LRP8 [HugePedia]
snp3D : Map Gene to Disease7804
BioCentury BCIQLRP8
ClinGenLRP8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7804
Chemical/Pharm GKB GenePA30457
Clinical trialLRP8
Miscellaneous
canSAR (ICR)LRP8 (select the gene name)
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRP8
EVEXLRP8
GoPubMedLRP8
iHOPLRP8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:24:46 CEST 2017

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