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LRP2 (LDL receptor related protein 2)

Identity

Other namesDBS
GP330
HGNC (Hugo) LRP2
LocusID (NCBI) 4036
Atlas_Id 49946
Location 2q31.1
Location_base_pair Starts at 169983619 and ends at 170219122 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABCB11 (2q31.1) / LRP2 (2q31.1)LRP2 (2q31.1) / PAPPA (9q33.1)PAPPA (9q33.1) / LRP2 (2q31.1)
POFUT2 (21q22.3) / LRP2 (2q31.1)POFUT2 21q22.3 / LRP2 2q31.1

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)LRP2   6694
Cards
Entrez_Gene (NCBI)LRP2  4036  LDL receptor related protein 2
AliasesDBS; GP330
GeneCards (Weizmann)LRP2
Ensembl hg19 (Hinxton)ENSG00000081479 [Gene_View]  chr2:169983619-170219122 [Contig_View]  LRP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000081479 [Gene_View]  chr2:169983619-170219122 [Contig_View]  LRP2 [Vega]
ICGC DataPortalENSG00000081479
TCGA cBioPortalLRP2
AceView (NCBI)LRP2
Genatlas (Paris)LRP2
WikiGenes4036
SOURCE (Princeton)LRP2
Genomic and cartography
GoldenPath hg19 (UCSC)LRP2  -     chr2:169983619-170219122 -  2q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LRP2  -     2q31.1   [Description]    (hg38-Dec_2013)
EnsemblLRP2 - 2q31.1 [CytoView hg19]  LRP2 - 2q31.1 [CytoView hg38]
Mapping of homologs : NCBILRP2 [Mapview hg19]  LRP2 [Mapview hg38]
OMIM222448   600073   
Gene and transcription
Genbank (Entrez)AK295005 AK302843 AY265357 AY265358 CD673312
RefSeq transcript (Entrez)NM_004525
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_012634 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)LRP2
Cluster EST : UnigeneHs.657729 [ NCBI ]
CGAP (NCI)Hs.657729
Alternative Splicing GalleryENSG00000081479
Gene ExpressionLRP2 [ NCBI-GEO ]   LRP2 [ EBI - ARRAY_EXPRESS ]   LRP2 [ SEEK ]   LRP2 [ MEM ]
Gene Expression Viewer (FireBrowse)LRP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4036
GTEX Portal (Tissue expression)LRP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP98164 (Uniprot)
NextProtP98164  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP98164
Splice isoforms : SwissVarP98164 (Swissvar)
PhosPhoSitePlusP98164
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    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    cEGF    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Growth_fac_rcpt_    LDLR_class-A_CS    LDLR_classB_rpt    LDrepeatLR_classA_rpt    Lectin_legB_Mn/Ca_BS   
Domain families : Pfam (Sanger)cEGF (PF12662)    EGF_CA (PF07645)    Ldl_recept_a (PF00057)    Ldl_recept_b (PF00058)   
Domain families : Pfam (NCBI)pfam12662    pfam07645    pfam00057    pfam00058   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  LDLa (SM00192)  LY (SM00135)  
DMDM Disease mutations4036
Blocks (Seattle)LRP2
PDB (SRS)2M0P   
PDB (PDBSum)2M0P   
PDB (IMB)2M0P   
PDB (RSDB)2M0P   
Structural Biology KnowledgeBase2M0P   
SCOP (Structural Classification of Proteins)2M0P   
CATH (Classification of proteins structures)2M0P   
SuperfamilyP98164
Human Protein AtlasENSG00000081479
Peptide AtlasP98164
HPRD02509
IPIIPI00024292   IPI00909411   IPI00924951   
Protein Interaction databases
DIP (DOE-UCLA)P98164
IntAct (EBI)P98164
FunCoupENSG00000081479
BioGRIDLRP2
STRING (EMBL)LRP2
ZODIACLRP2
Ontologies - Pathways
QuickGOP98164
Ontology : AmiGOretinoid metabolic process  ventricular septum development  low-density lipoprotein receptor activity  calcium ion binding  protein binding  lysosome  lysosomal membrane  endosome  endoplasmic reticulum  Golgi apparatus  plasma membrane  coated pit  protein glycosylation  lipid metabolic process  endocytosis  receptor-mediated endocytosis  cell proliferation  integral component of membrane  apical plasma membrane  SH3 domain binding  endocytic vesicle  forebrain development  brush border membrane  aorta development  vitamin D metabolic process  lipoprotein transport  lipoprotein transporter activity  receptor complex  coronary vasculature development  extracellular exosome  
Ontology : EGO-EBIretinoid metabolic process  ventricular septum development  low-density lipoprotein receptor activity  calcium ion binding  protein binding  lysosome  lysosomal membrane  endosome  endoplasmic reticulum  Golgi apparatus  plasma membrane  coated pit  protein glycosylation  lipid metabolic process  endocytosis  receptor-mediated endocytosis  cell proliferation  integral component of membrane  apical plasma membrane  SH3 domain binding  endocytic vesicle  forebrain development  brush border membrane  aorta development  vitamin D metabolic process  lipoprotein transport  lipoprotein transporter activity  receptor complex  coronary vasculature development  extracellular exosome  
Pathways : KEGGHedgehog signaling pathway    Thyroid hormone synthesis   
NDEx Network
Atlas of Cancer Signalling NetworkLRP2
Wikipedia pathwaysLRP2
Orthology - Evolution
OrthoDB4036
GeneTree (enSembl)ENSG00000081479
Phylogenetic Trees/Animal Genes : TreeFamLRP2
Homologs : HomoloGeneLRP2
Homology/Alignments : Family Browser (UCSC)LRP2
Gene fusions - Rearrangements
Fusion: TCGAPOFUT2 21q22.3 LRP2 2q31.1 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerLRP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRP2
dbVarLRP2
ClinVarLRP2
1000_GenomesLRP2 
Exome Variant ServerLRP2
ExAC (Exome Aggregation Consortium)LRP2 (select the gene name)
Genetic variants : HAPMAP4036
Genomic Variants (DGV)LRP2 [DGVbeta]
Mutations
ICGC Data PortalLRP2 
TCGA Data PortalLRP2 
Broad Tumor PortalLRP2
OASIS PortalLRP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRP2 
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LRP2
DgiDB (Drug Gene Interaction Database)LRP2
DoCM (Curated mutations)LRP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRP2 (select a term)
intoGenLRP2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:169983619-170219122  ENSG00000081479
CONAN: Copy Number AnalysisLRP2 
Mutations and Diseases : HGMDLRP2
OMIM222448    600073   
MedgenLRP2
Genetic Testing Registry LRP2
NextProtP98164 [Medical]
TSGene4036
GENETestsLRP2
Huge Navigator LRP2 [HugePedia]
snp3D : Map Gene to Disease4036
BioCentury BCIQLRP2
ClinGenLRP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4036
Chemical/Pharm GKB GenePA30452
Clinical trialLRP2
Miscellaneous
canSAR (ICR)LRP2 (select the gene name)
Probes
Litterature
PubMed118 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRP2
EVEXLRP2
GoPubMedLRP2
iHOPLRP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:09:32 CEST 2016

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