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    LRP2BP LRP2 binding protein [ Homo sapiens ]

    Gene ID: 55805, updated on 11-May-2012
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    Summary

    Official Symbol
    LRP2BPprovided by HGNC
    Official Full Name
    LRP2 binding proteinprovided by HGNC
    Primary source
    HGNC:25434
    See related
    Ensembl:ENSG00000109771; HPRD:10911; Vega:OTTHUMG00000160460
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FLJ44965; DKFZp761O0113
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    Genomic context

    Location :
    4q35.1
    Sequence :
    Chromosome: 4; NC_000004.11 (186285032..186300152, complement)
    See LRP2BP in Epigenomics, MapViewer

    Chromosome 4 - NC_000004.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 Neighboring gene KIAA1430 Neighboring gene sorting nexin 25 Neighboring gene ankyrin repeat domain 37 Neighboring gene uncharacterized LOC100288644 Neighboring gene UFM1-specific peptidase 2

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation. Stora S, et al. Eur J Med Genet, 2009 Sep-Oct. PMID 19577669.
    2. Microalbuminuria in type 1 diabetes is associated with enhanced excretion of the endocytic multiligand receptors megalin and cubilin. Thrailkill KM, et al. Diabetes Care, 2009 Jul. PMID 19366958.
    3. Molecular cloning and characterization of a novel human gene containing 4 ankyrin repeat domains. Li J, et al. Cell Mol Biol Lett, 2005. PMID 15809689.
    4. Functional interaction of megalin with the megalinbinding protein (MegBP), a novel tetratrico peptide repeat-containing adaptor molecule. Petersen HH, et al. J Cell Sci, 2003 Feb 1. PMID 12508107.
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932.

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. A 56-year-old female patient with FOAR syndrome and a novel mutation is reported.
      Title: A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation.
    2. Aberrant shedding of megalin and cubilin may contribute to albuminuria in diabetes and to deficiency states of important vitamins and hormones.
      Title: Microalbuminuria in type 1 diabetes is associated with enhanced excretion of the endocytic multiligand receptors megalin and cubilin.
    3. both in the cytoplasm and nucleus, 4 ankyrin repeats
      Title: Molecular cloning and characterization of a novel human gene containing 4 ankyrin repeat domains.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Megalin binding protein O60241 BAI2    HPRD  PubMed  
    Megalin binding protein Q9UNS2 COPS3    HPRD  PubMed  
    Megalin binding protein P98164 LRP2    HPRD  PubMed  
    Megalin binding protein Q9NRD5 PICK1    HPRD  PubMed  
    Megalin binding protein Q9BWF3 RBM4    HPRD  PubMed  
    Megalin binding protein Q13573 SNW1    HPRD  PubMed  
    Megalin binding protein Q9Y3Q8 TSC22D4    HPRD  PubMed  
    BioGRID:120916 BioGRID:110216 LRP2    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    LRP2-binding protein
    Names
    LRP2-binding protein
    megBP
    megalin-binding protein
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_018409.3 → NP_060879.2  LRP2-binding protein

      Status: VALIDATED

      Source sequence(s)
      AC073344, AL161975, BC150161
      Consensus CDS
      CCDS3840.1
      UniProtKB/Swiss-Prot
      Q9P2M1
      Related
      ENSP00000332681, OTTHUMP00000218251, ENST00000328559, OTTHUMT00000360679
      Conserved Domains (2) summary
      COG0790
      Location:32 – 249
      Blast Score: 170
      COG0790; FOG: TPR repeat, SEL1 subfamily [General function prediction only]
      cl02723
      Location:208 – 242
      Blast Score: 95
      Sel1; Sel1 repeat

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000004.11 Reference GRCh37.p5 Primary Assembly

      Range
      186285032..186300152, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000136.1 Alternate HuRef

      Range
      182038542..182053584, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC073344.7 (174476..189595) None
    genomic CH471056.2 EAX04649.1
      EAX04650.1
    mRNA AB037746.1 BAA92563.1
    mRNA AK126913.1 BAG54395.1
    mRNA AL161975.1 CAB82313.2
    mRNA BC150161.1 AAI50162.1
    mRNA BC152444.1 AAI52445.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2M1.2 GenPept UniProtKB/Swiss-Prot:Q9P2M1
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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