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    GPRC5B G protein-coupled receptor class C group 5 member B [ Homo sapiens (human) ]

    Gene ID: 51704, updated on 27-Nov-2024

    Summary

    Official Symbol
    GPRC5Bprovided by HGNC
    Official Full Name
    G protein-coupled receptor class C group 5 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:13308
    See related
    Ensembl:ENSG00000167191 MIM:605948; AllianceGenome:HGNC:13308
    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
    MLC3; RAIG2; RAIG-2
    Summary
    This gene encodes a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The encoded protein may modulate insulin secretion and increased protein expression is associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
    Expression
    Biased expression in brain (RPKM 139.6), testis (RPKM 34.2) and 11 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GPRC5B in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (19856691..19885634, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (19787483..19816404, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (19868013..19896956, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene IQ motif containing K Neighboring gene uncharacterized LOC105371115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:19778410-19778910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:19778911-19779411 Neighboring gene LARP7 pseudogene 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19864519-19865437 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19865438-19866357 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:19869508-19870707 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19871981-19872562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19873143-19873723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19879518-19880020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:19883504-19884004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19887125-19887940 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19890529-19891258 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19891259-19891990 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19891991-19892720 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:19892721-19893452 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:19893453-19894182 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:19894183-19894913 Neighboring gene Sharpr-MPRA regulatory region 8054 Neighboring gene uncharacterized LOC105371116 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:19980466-19980966 Neighboring gene uncharacterized LOC105371117 Neighboring gene uncharacterized LOC124903660

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Megalencephalic leukoencephalopathy with subcortical cysts 3
    MedGen: C5830625 OMIM: 620447 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables G protein-coupled receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein kinase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell volume homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of macrophage cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein tyrosine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular exosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    G-protein coupled receptor family C group 5 member B
    Names
    G protein-coupled receptor, family C, group 1, member B
    retinoic acid responsive gene protein
    retinoic acid-induced gene 2 protein

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001304771.1NP_001291700.1  G-protein coupled receptor family C group 5 member B isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5'-terminal exon, which results in the use of an upstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a longer N-terminus compared to isoform 1.
      Source sequence(s)
      AK302838, AL137684, DC344063
      UniProtKB/TrEMBL
      B7Z831
      Conserved Domains (1) summary
      pfam00003
      Location:243424
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    2. NM_016235.3NP_057319.1  G-protein coupled receptor family C group 5 member B isoform 1 precursor

      See identical proteins and their annotated locations for NP_057319.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AC134300, BC034467, DA141861
      Consensus CDS
      CCDS10581.1
      UniProtKB/Swiss-Prot
      D2DFB0, O75205, Q8NBZ8, Q9NZH0
      UniProtKB/TrEMBL
      B7Z831
      Related
      ENSP00000300571.2, ENST00000300571.7
      Conserved Domains (1) summary
      cd15278
      Location:54297
      7tmC_RAIG2_GPRC5B; retinoic acid-inducible orphan G-protein-coupled receptor 2; class C family of seven-transmembrane G protein-coupled receptors, group 5, member B

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      19856691..19885634 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      19787483..19816404 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)