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LRP2BP LRP2 binding protein [ Homo sapiens (human) ]

Gene ID: 55805, updated on 17-Jun-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, Apr 2022]
Expression
Broad expression in testis (RPKM 1.4), brain (RPKM 1.2) and 24 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185363872..185397287, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188707163..188740618, complement)
105.20220307 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
  • 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_2023_10

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

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