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    LRP2BP LRP2 binding protein [ Homo sapiens (human) ]

    Gene ID: 55805, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LRP2BPprovided by HGNC
    Official Full Name
    LRP2 binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:25434
    See related
    Ensembl:ENSG00000109771 MIM:619020; AllianceGenome:HGNC:25434
    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
    Summary
    Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 1.4), brain (RPKM 1.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRP2BP in Genome Data Viewer
    Location:
    4q35.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185363872..185397287, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188707163..188740618, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (186285026..186318441, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 97 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:186125066-186125237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22250 Neighboring gene sorting nexin 25 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186160877-186161869 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186161870-186162861 Neighboring gene NANOG hESC enhancer GRCh37_chr4:186187032-186187533 Neighboring gene Sharpr-MPRA regulatory region 940 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:186223282-186223782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22253 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186227325-186227825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22255 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186239748-186240413 Neighboring gene uncharacterized LOC124900827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22259 Neighboring gene ankyrin repeat domain 37 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22261 Neighboring gene UFM1 specific peptidase 2 Neighboring gene cilia and flagella associated protein 96 Neighboring gene Sharpr-MPRA regulatory region 8879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15856 Neighboring gene uncharacterized LOC105377590 Neighboring gene coiled-coil domain containing 110

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Exome-Wide Association Analysis Suggests LRP2BP as a Susceptibility Gene for Endothelial Injury in Systemic Sclerosis in the Han Chinese Population. Pu W, et al. J Invest Dermatol, 2021 May. PMID 33069728
    2. 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
    3. LncRNA-RP11-714G18.1 suppresses vascular cell migration via directly targeting LRP2BP. Zhang Y, et al. Immunol Cell Biol, 2018 Feb. PMID 29363163
    4. 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, Free PMC Article
    5. 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

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exome-Wide Association Analysis Suggests LRP2BP as a Susceptibility Gene for Endothelial Injury in Systemic Sclerosis in the Han Chinese Population.
      Title: Exome-Wide Association Analysis Suggests LRP2BP as a Susceptibility Gene for Endothelial Injury in Systemic Sclerosis in the Han Chinese Population.
    2. RP11-714G18.1 may play an athero-protective role by inhibiting vascular cell migration via RP11-714G18.1/LRP2BP/MMP1 signaling pathway.
      Title: LncRNA-RP11-714G18.1 suppresses vascular cell migration via directly targeting LRP2BP.
    3. 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.
    4. 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.
    5. 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

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44965, DKFZp761O0113

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    LRP2-binding protein
    Names
    megBP
    megalin-binding protein

    NCBI Reference Sequences (RefSeq)

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    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_001377440.1 → NP_001364369.1  LRP2-binding protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC073344, AC106897
      Consensus CDS
      CCDS3840.1
      UniProtKB/Swiss-Prot
      A6NJR7, A7E219, B3KX83, Q9NSN6, Q9P2M1
      UniProtKB/TrEMBL
      G5E9Z9
      Related
      ENSP00000426203.1, ENST00000505916.6
      Conserved Domains (2) summary
      COG0790
      Location:61 → 254
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:109 → 145
      SLR; SLR repeat [structural motif]

    2. NM_001377441.3 → NP_001364370.2  LRP2-binding protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC073344, AC106897
      Conserved Domains (2) summary
      COG0790
      Location:1 → 156
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:11 → 47
      SLR; SLR repeat [structural motif]

    3. NM_001377442.1 → NP_001364371.1  LRP2-binding protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC073344, AC106897
      Conserved Domains (2) summary
      COG0790
      Location:1 → 156
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:11 → 47
      SLR; SLR repeat [structural motif]

    4. NM_001377443.1 → NP_001364372.1  LRP2-binding protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC073344, AC106897
      Conserved Domains (2) summary
      COG0790
      Location:1 → 156
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:11 → 47
      SLR; SLR repeat [structural motif]

    5. NM_001385601.1 → NP_001372530.1  LRP2-binding protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC073344, AC106897
      Consensus CDS
      CCDS3840.1
      UniProtKB/Swiss-Prot
      A6NJR7, A7E219, B3KX83, Q9NSN6, Q9P2M1
      UniProtKB/TrEMBL
      G5E9Z9
      Conserved Domains (2) summary
      COG0790
      Location:61 → 254
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:109 → 145
      SLR; SLR repeat [structural motif]

    6. NM_001385602.1 → NP_001372531.1  LRP2-binding protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC073344, AC106897
      UniProtKB/TrEMBL
      G5E9Z9
      Conserved Domains (2) summary
      COG0790
      Location:61 → 253
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:151 → 184
      SLR; SLR repeat [structural motif]

    7. NM_001385603.1 → NP_001372532.1  LRP2-binding protein isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC073344, AC106897
      Conserved Domains (2) summary
      COG0790
      Location:61 → 254
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:109 → 145
      SLR; SLR repeat [structural motif]

    8. NM_001385604.1 → NP_001372533.1  LRP2-binding protein isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC073344, AC106897
      Conserved Domains (2) summary
      COG0790
      Location:61 → 254
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:109 → 145
      SLR; SLR repeat [structural motif]

    9. NM_001385605.1 → NP_001372534.1  LRP2-binding protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC073344, AC106897
      Conserved Domains (2) summary
      COG0790
      Location:1 → 156
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:11 → 47
      SLR; SLR repeat [structural motif]

    10. NM_001385606.1 → NP_001372535.1  LRP2-binding protein isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC073344, AC106897
      Conserved Domains (3) summary
      smart00671
      Location:198 → 232
      SEL1; Sel1-like repeats
      COG0790
      Location:35 → 155
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:53 → 86
      SLR; SLR repeat [structural motif]

    11. NM_018409.4 → NP_060879.2  LRP2-binding protein isoform 1

      See identical proteins and their annotated locations for NP_060879.2

      Status: VALIDATED

      Source sequence(s)
      AC073344
      Consensus CDS
      CCDS3840.1
      UniProtKB/Swiss-Prot
      A6NJR7, A7E219, B3KX83, Q9NSN6, Q9P2M1
      UniProtKB/TrEMBL
      G5E9Z9
      Related
      ENSP00000332681.7, ENST00000328559.11
      Conserved Domains (2) summary
      COG0790
      Location:61 → 254
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:109 → 145
      SLR; SLR repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      185363872..185397287 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024454135.2 → XP_024309903.1  LRP2-binding protein isoform X1

      UniProtKB/Swiss-Prot
      A6NJR7, A7E219, B3KX83, Q9NSN6, Q9P2M1
      UniProtKB/TrEMBL
      G5E9Z9
      Conserved Domains (2) summary
      COG0790
      Location:61 → 254
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:109 → 145
      SLR; SLR repeat [structural motif]

    2. XM_024454134.2 → XP_024309902.1  LRP2-binding protein isoform X1

      UniProtKB/Swiss-Prot
      A6NJR7, A7E219, B3KX83, Q9NSN6, Q9P2M1
      UniProtKB/TrEMBL
      G5E9Z9
      Conserved Domains (2) summary
      COG0790
      Location:61 → 254
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:109 → 145
      SLR; SLR repeat [structural motif]

    3. XM_011532111.4 → XP_011530413.1  LRP2-binding protein isoform X2

      See identical proteins and their annotated locations for XP_011530413.1

      Conserved Domains (2) summary
      COG0790
      Location:1 → 156
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:11 → 47
      SLR; SLR repeat [structural motif]

    4. XM_017008410.3 → XP_016863899.1  LRP2-binding protein isoform X1

      UniProtKB/Swiss-Prot
      A6NJR7, A7E219, B3KX83, Q9NSN6, Q9P2M1
      UniProtKB/TrEMBL
      G5E9Z9
      Conserved Domains (2) summary
      COG0790
      Location:61 → 254
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:109 → 145
      SLR; SLR repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      188707163..188740618 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2M1.2 GenPept UniProtKB/Swiss-Prot:Q9P2M1

    Gene LinkOut

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

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