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    LGR4 leucine rich repeat containing G protein-coupled receptor 4 [ Homo sapiens (human) ]

    Gene ID: 55366, updated on 11-Apr-2024

    Summary

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    Official Symbol
    LGR4provided by HGNC
    Official Full Name
    leucine rich repeat containing G protein-coupled receptor 4provided by HGNC
    Primary source
    HGNC:HGNC:13299
    See related
    Ensembl:ENSG00000205213 MIM:606666; AllianceGenome:HGNC:13299
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DPSL; GPR48; BNMD17
    Summary
    The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in kidney (RPKM 28.0), colon (RPKM 27.7) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11p14.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (27365961..27472790, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (27506453..27613276, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (27387508..27494337, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376601 Neighboring gene Sharpr-MPRA regulatory region 9357 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:27340270-27341469 Neighboring gene coiled-coil domain containing 34 Neighboring gene Sharpr-MPRA regulatory region 11938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:27384156-27385023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4543 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:27462218-27462830 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:27465211-27465953 Neighboring gene Sharpr-MPRA regulatory region 4633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:27483166-27483666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3211 Neighboring gene LGR4 antisense RNA 1 Neighboring gene ribosomal protein L37a pseudogene 7 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:27527877-27529076 Neighboring gene lin-7 homolog C, crumbs cell polarity complex component

    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. LGR4: A New Receptor Member in Endocrine and Metabolic Diseases. Zhang N, et al. Endocr Rev, 2023 Jul 11. PMID 36791020, Free PMC Article
    2. Bioinformatics Analysis of LGR4 in Colon Adenocarcinoma as Potential Diagnostic Biomarker, Therapeutic Target and Promoting Immune Cell Infiltration. Wu L, et al. Biomolecules, 2022 Aug 6. PMID 36008975, Free PMC Article
    3. LGR4 Gene Polymorphisms Are Associated With Bone and Obesity Phenotypes in Chinese Female Nuclear Families. Shi SQ, et al. Front Endocrinol (Lausanne), 2021. PMID 34707566, Free PMC Article
    4. The Role of LGR4 (GPR48) in Normal and Cancer Processes. Ordaz-Ramos A, et al. Int J Mol Sci, 2021 Apr 29. PMID 33946652, Free PMC Article
    5. Ablation of LGR4 signaling enhances radiation sensitivity of prostate cancer cells. Liang F, et al. Life Sci, 2021 Jan 15. PMID 33171177

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rspo2-LGR4 exacerbates hepatocellular carcinoma progression via activation of Wnt/beta-catenin signaling pathway.
      Title: Rspo2-LGR4 exacerbates hepatocellular carcinoma progression via activation of Wnt/β-catenin signaling pathway.
    2. Identification of LGR4 as a prognostic biomarker in KRAS-mutant lung adenocarcinoma: Evidence from integrated bioinformatics analysis.
      Title: Identification of LGR4 as a prognostic biomarker in KRAS-mutant lung adenocarcinoma: Evidence from integrated bioinformatics analysis.
    3. LGR4 promotes tumorigenesis by activating TGF-beta1/Smad signaling pathway in multiple myeloma.
      Title: LGR4 promotes tumorigenesis by activating TGF-β1/Smad signaling pathway in multiple myeloma.
    4. LGR4: A New Receptor Member in Endocrine and Metabolic Diseases.
      Title: LGR4: A New Receptor Member in Endocrine and Metabolic Diseases.
    5. Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation.
      Title: Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation.
    6. Bioinformatics Analysis of LGR4 in Colon Adenocarcinoma as Potential Diagnostic Biomarker, Therapeutic Target and Promoting Immune Cell Infiltration.
      Title: Bioinformatics Analysis of LGR4 in Colon Adenocarcinoma as Potential Diagnostic Biomarker, Therapeutic Target and Promoting Immune Cell Infiltration.
    7. RSPO2 and RANKL signal through LGR4 to regulate osteoclastic premetastatic niche formation and bone metastasis.
      Title: RSPO2 and RANKL signal through LGR4 to regulate osteoclastic premetastatic niche formation and bone metastasis.
    8. Clinical Significance of Stem Cell Biomarkers EpCAM, LGR5 and LGR4 mRNA Levels in Lymph Nodes of Colon Cancer Patients.
      Title: Clinical Significance of Stem Cell Biomarkers EpCAM, LGR5 and LGR4 mRNA Levels in Lymph Nodes of Colon Cancer Patients.
    9. LGR4 Gene Polymorphisms Are Associated With Bone and Obesity Phenotypes in Chinese Female Nuclear Families.
      Title: LGR4 Gene Polymorphisms Are Associated With Bone and Obesity Phenotypes in Chinese Female Nuclear Families.
    10. LGR4, Not LGR5, Enhances hPSC Hematopoiesis by Facilitating Mesoderm Induction via TGF-Beta Signaling Activation.
      Title: LGR4, Not LGR5, Enhances hPSC Hematopoiesis by Facilitating Mesoderm Induction via TGF-Beta Signaling Activation.
    Submit: New GeneRIF Correction See all GeneRIFs (53)

    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

    Associated conditions

    Description Tests
    Bone mineral density quantitative trait locus 17
    MedGen: C3714987 OMIM: 615311 GeneReviews: Not available
    		not available
    Delayed puberty, self-limited
    MedGen: C2874202 OMIM: 619613 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled peptide receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT enables G protein-coupled receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-hormone receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmembrane signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in activation of adenylate cyclase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in bone remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in circadian regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in digestive tract development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial cell proliferation involved in renal tubule morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intestinal stem cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male genitalia development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in metanephric glomerulus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in metanephric nephron tubule morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in negative regulation of cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of toll-like receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing G-protein coupled receptor 4
    Names
    G protein-coupled receptor 48

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_051818.2 RefSeqGene

      Range
      5000..111829
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346432.2 → NP_001333361.1  leucine-rich repeat-containing G-protein coupled receptor 4 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC090597, AC100771
      Consensus CDS
      CCDS86187.1
      UniProtKB/TrEMBL
      Q59ER8
      Related
      ENSP00000374508.4, ENST00000389858.4

    2. NM_018490.5 → NP_060960.2  leucine-rich repeat-containing G-protein coupled receptor 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_060960.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC090597, AC100771
      Consensus CDS
      CCDS31449.1
      UniProtKB/Swiss-Prot
      A6NCH3, G5E9B3, Q8N537, Q9BXB1, Q9NYD1
      UniProtKB/TrEMBL
      Q59ER8
      Related
      ENSP00000368516.4, ENST00000379214.9
      Conserved Domains (5) summary
      cd00116
      Location:44 → 239
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:59 → 82
      LRR_RI; leucine-rich repeat [structural motif]
      pfam00001
      Location:556 → 801
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      pfam01462
      Location:29 → 56
      LRRNT; Leucine rich repeat N-terminal domain
      pfam13855
      Location:177 → 237
      LRR_8; Leucine rich repeat

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      27365961..27472790 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      27506453..27613276 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXB1.2 GenPept UniProtKB/Swiss-Prot:Q9BXB1

    Gene LinkOut

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

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