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    GIPR gastric inhibitory polypeptide receptor [ Homo sapiens (human) ]

    Gene ID: 2696, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GIPRprovided by HGNC
    Official Full Name
    gastric inhibitory polypeptide receptorprovided by HGNC
    Primary source
    HGNC:HGNC:4271
    See related
    Ensembl:ENSG00000010310 MIM:137241; AllianceGenome:HGNC:4271
    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
    PGQTL2
    Summary
    This gene encodes a G-protein coupled receptor for gastric inhibitory polypeptide (GIP), which was originally identified as an activity in gut extracts that inhibited gastric acid secretion and gastrin release, but subsequently was demonstrated to stimulate insulin release in the presence of elevated glucose. Mice lacking this gene exhibit higher blood glucose levels with impaired initial insulin response after oral glucose load. Defect in this gene thus may contribute to the pathogenesis of diabetes. [provided by RefSeq, Oct 2011]
    Expression
    Broad expression in stomach (RPKM 5.3), fat (RPKM 1.5) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GIPR in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45668221..45683722)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48495760..48511255)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46171479..46186980)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene EMAP like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46145740-46146591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46148647-46149146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10786 Neighboring gene EML2 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46150807-46151667 Neighboring gene RNA, 7SL, cytoplasmic 836, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46173596-46174114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46174115-46174633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10791 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14811 Neighboring gene microRNA 642a Neighboring gene microRNA 642b Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46194747-46195467 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46196081-46196631 Neighboring gene small nuclear ribonucleoprotein D2 polypeptide Neighboring gene glutaminyl-peptide cyclotransferase like

    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. Association of variants in gastric inhibitory polypeptide receptor gene with impaired glucose homeostasis in obese children and adolescents from Berlin. Sauber J, et al. Eur J Endocrinol, 2010 Aug. PMID 20516203
    2. Internalization and desensitization of the human glucose-dependent-insulinotropic receptor is affected by N-terminal acetylation of the agonist. Ismail S, et al. Mol Cell Endocrinol, 2015 Oct 15. PMID 26225752
    3. GIPR Gene Polymorphism and Weight Gain in Patients With Schizophrenia Treated With Olanzapine. Ono S, et al. J Neuropsychiatry Clin Neurosci, 2015. PMID 25321336
    4. Disruption of GIP/GIPR axis in human adipose tissue is linked to obesity and insulin resistance. Ceperuelo-Mallafré V, et al. J Clin Endocrinol Metab, 2014 May. PMID 24512489
    5. A functional amino acid substitution in the glucose-dependent insulinotropic polypeptide receptor (GIPR) gene is associated with lower bone mineral density and increased fracture risk. Torekov SS, et al. J Clin Endocrinol Metab, 2014 Apr. PMID 24446656

    See all (87) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Obesity Variants in the GIPR Gene Are not Associated With Risk of Fracture or Bone Mineral Density.
      Title: Obesity Variants in the GIPR Gene Are not Associated With Risk of Fracture or Bone Mineral Density.
    2. The Methylation Analysis of the Glucose-Dependent Insulinotropic Polypeptide Receptor (GIPR) Locus in GH-Secreting Pituitary Adenomas.
      Title: The Methylation Analysis of the Glucose-Dependent Insulinotropic Polypeptide Receptor (GIPR) Locus in GH-Secreting Pituitary Adenomas.
    3. Enhanced Endosomal Signaling and Desensitization of GLP-1R vs GIPR in Pancreatic Beta Cells.
      Title: Enhanced Endosomal Signaling and Desensitization of GLP-1R vs GIPR in Pancreatic Beta Cells.
    4. Association of gastric inhibitory polypeptide receptor (GIPR) gene polymorphism with type 2 diabetes mellitus in iranian patients.
      Title: Association of gastric inhibitory polypeptide receptor (GIPR) gene polymorphism with type 2 diabetes mellitus in iranian patients.
    5. Differential effects of glucose-dependent insulinotropic polypeptide receptor/glucagon-like peptide-1 receptor heteromerization on cell signaling when expressed in HEK-293 cells.
      Title: Differential effects of glucose-dependent insulinotropic polypeptide receptor/glucagon-like peptide-1 receptor heteromerization on cell signaling when expressed in HEK-293 cells.
    6. The Link between Three Single Nucleotide Variants of the GIPR Gene and Metabolic Health.
      Title: The Link between Three Single Nucleotide Variants of the GIPR Gene and Metabolic Health.
    7. GLP-1 and GIP receptor signaling in beta cells - A review of receptor interactions and co-stimulation.
      Title: GLP-1 and GIP receptor signaling in beta cells - A review of receptor interactions and co-stimulation.
    8. Genetically Predicted Glucose-Dependent Insulinotropic Polypeptide (GIP) Levels and Cardiovascular Disease Risk Are Driven by Distinct Causal Variants in the GIPR Region.
      Title: Genetically Predicted Glucose-Dependent Insulinotropic Polypeptide (GIP) Levels and Cardiovascular Disease Risk Are Driven by Distinct Causal Variants in the GIPR Region.
    9. Investigating GIPR (ant)agonism: A structural analysis of GIP and its receptor.
      Title: Investigating GIPR (ant)agonism: A structural analysis of GIP and its receptor.
    10. Targeting the GIPR for obesity: To agonize or antagonize? Potential mechanisms.
      Title: Targeting the GIPR for obesity: To agonize or antagonize? Potential mechanisms.
    Submit: New GeneRIF Correction See all GeneRIFs (57)

    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

    EBI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.
    EBI GWAS Catalog
    Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Meta-analysis identifies common variants associated with body mass index in east Asians.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126722

    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
    		  
    enables gastric inhibitory peptide receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables gastric inhibitory peptide receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucagon family peptide binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables peptide hormone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptide hormone binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in activation of adenylate cyclase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell surface receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in desensitization of G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endocrine pancreas development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gastric inhibitory peptide signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of cAMP-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of insulin secretion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in response to axon injury IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to calcium ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to fatty acid IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to glucose IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to nutrient TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    gastric inhibitory polypeptide receptor
    Names
    GIP-R
    glucose-dependent insulinotropic polypeptide receptor

    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.

    mRNA and Protein(s)

    1. NM_000164.4 → NP_000155.1  gastric inhibitory polypeptide receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_000155.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC006132, AC007191, BM129443, BU784011, U39231
      Consensus CDS
      CCDS12671.1
      UniProtKB/Swiss-Prot
      B7WP14, B7ZKQ0, P48546, Q14401, Q16400, Q52M04, Q9UPI1
      UniProtKB/TrEMBL
      Q4VBP1
      Related
      ENSP00000467494.1, ENST00000590918.6
      Conserved Domains (2) summary
      smart00008
      Location:57 → 126
      HormR; Domain present in hormone receptors
      cd15929
      Location:134 → 409
      7tmB1_GlucagonR-like; glucagon receptor-like subfamily, member of the class B family of seven-transmembrane G protein-coupled receptors

    2. NM_001308418.2 → NP_001295347.1  gastric inhibitory polypeptide receptor isoform 2 precursor

      See identical proteins and their annotated locations for NP_001295347.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC006132, AC007191, BC143300, BM129443, BU784011, U39231
      Consensus CDS
      CCDS82367.1
      UniProtKB/TrEMBL
      Q4VBP1
      Related
      ENSP00000305321.8, ENST00000304207.12
      Conserved Domains (2) summary
      pfam00002
      Location:98 → 352
      7tm_2; 7 transmembrane receptor (Secretin family)
      cl02422
      Location:49 → 90
      HRM; Hormone receptor domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      45668221..45683722
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438600.1 → XP_047294556.1  gastric inhibitory polypeptide receptor isoform X3

      UniProtKB/Swiss-Prot
      B7WP14, B7ZKQ0, P48546, Q14401, Q16400, Q52M04, Q9UPI1

    2. XM_047438599.1 → XP_047294555.1  gastric inhibitory polypeptide receptor isoform X2

    3. XM_011526710.3 → XP_011525012.1  gastric inhibitory polypeptide receptor isoform X1

      See identical proteins and their annotated locations for XP_011525012.1

      UniProtKB/TrEMBL
      Q4VBP1
      Conserved Domains (2) summary
      pfam00002
      Location:134 → 430
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam02793
      Location:58 → 121
      HRM; Hormone receptor domain

    4. XM_011526709.3 → XP_011525011.1  gastric inhibitory polypeptide receptor isoform X1

      See identical proteins and their annotated locations for XP_011525011.1

      UniProtKB/TrEMBL
      Q4VBP1
      Conserved Domains (2) summary
      pfam00002
      Location:134 → 430
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam02793
      Location:58 → 121
      HRM; Hormone receptor domain

    5. XM_011526713.3 → XP_011525015.1  gastric inhibitory polypeptide receptor isoform X4

      UniProtKB/TrEMBL
      Q4VBP1
      Conserved Domains (2) summary
      pfam02793
      Location:58 → 121
      HRM; Hormone receptor domain
      cl21561
      Location:132 → 347
      7tm_4; Olfactory receptor

    6. XM_047438601.1 → XP_047294557.1  gastric inhibitory polypeptide receptor isoform X5

    7. XM_011526716.3 → XP_011525018.1  gastric inhibitory polypeptide receptor isoform X7

      Conserved Domains (2) summary
      smart00008
      Location:57 → 126
      HormR; Domain present in hormone receptors
      cl21561
      Location:134 → 265
      7tm_4; Olfactory receptor

    8. XM_047438602.1 → XP_047294558.1  gastric inhibitory polypeptide receptor isoform X8

    9. XM_047438603.1 → XP_047294559.1  gastric inhibitory polypeptide receptor isoform X9

      UniProtKB/TrEMBL
      K7EPD9
      Related
      ENSP00000467342.1, ENST00000585889.1

    10. XM_011526715.3 → XP_011525017.1  gastric inhibitory polypeptide receptor isoform X6

      See identical proteins and their annotated locations for XP_011525017.1

      UniProtKB/TrEMBL
      A0A494C077
      Conserved Domains (1) summary
      pfam00002
      Location:1 → 291
      7tm_2; 7 transmembrane receptor (Secretin family)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      48495760..48511255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320524.1 → XP_054176499.1  gastric inhibitory polypeptide receptor isoform X3

    2. XM_054320523.1 → XP_054176498.1  gastric inhibitory polypeptide receptor isoform X2

    3. XM_054320521.1 → XP_054176496.1  gastric inhibitory polypeptide receptor isoform X1

    4. XM_054320520.1 → XP_054176495.1  gastric inhibitory polypeptide receptor isoform X1

    5. XM_054320525.1 → XP_054176500.1  gastric inhibitory polypeptide receptor isoform X4

    6. XM_054320526.1 → XP_054176501.1  gastric inhibitory polypeptide receptor isoform X5

    7. XM_054320528.1 → XP_054176503.1  gastric inhibitory polypeptide receptor isoform X7

    8. XM_054320529.1 → XP_054176504.1  gastric inhibitory polypeptide receptor isoform X8

    9. XM_054320530.1 → XP_054176505.1  gastric inhibitory polypeptide receptor isoform X9

      UniProtKB/TrEMBL
      K7EPD9

    10. XM_054320522.1 → XP_054176497.1  gastric inhibitory polypeptide receptor isoform X1

    11. XM_054320527.1 → XP_054176502.1  gastric inhibitory polypeptide receptor isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P48546.1 GenPept UniProtKB/Swiss-Prot:P48546

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