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

Summary

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

Location:: 19q13.32

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (45668221..45683722)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (48495760..48511255)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (46171479..46186980)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
Targeting the GIPR for obesity: To agonize or antagonize? Potential mechanisms.
Title: Targeting the GIPR for obesity: To agonize or antagonize? Potential mechanisms.
The pathogenic role of the GIP/GIPR axis in human endocrine tumors: emerging clinical mechanisms beyond diabetes.
Title: The pathogenic role of the GIP/GIPR axis in human endocrine tumors: emerging clinical mechanisms beyond diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (56)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-35658 (e-PCR)
- UniSTS:81451

RH79151 (e-PCR)
- UniSTS:17717

RH18050 (e-PCR)
- UniSTS:16441

NoName (e-PCR)
- UniSTS:483184

G07764 (e-PCR)
- UniSTS:43909

NoName (e-PCR)
- UniSTS:481231

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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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)

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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

45668221..45683722

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B7WP14, B7ZKQ0, P48546, Q14401, Q16400, Q52M04, Q9UPI1
XM_047438599.1 → XP_047294555.1 gastric inhibitory polypeptide receptor isoform X2
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
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
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
XM_047438601.1 → XP_047294557.1 gastric inhibitory polypeptide receptor isoform X5
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
XM_047438602.1 → XP_047294558.1 gastric inhibitory polypeptide receptor isoform X8
XM_047438603.1 → XP_047294559.1 gastric inhibitory polypeptide receptor isoform X9

UniProtKB/TrEMBL

K7EPD9

Related

ENSP00000467342.1, ENST00000585889.1
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

NC_060943.1 Alternate T2T-CHM13v2.0

Range

48495760..48511255

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320524.1 → XP_054176499.1 gastric inhibitory polypeptide receptor isoform X3
XM_054320523.1 → XP_054176498.1 gastric inhibitory polypeptide receptor isoform X2
XM_054320521.1 → XP_054176496.1 gastric inhibitory polypeptide receptor isoform X1
XM_054320520.1 → XP_054176495.1 gastric inhibitory polypeptide receptor isoform X1
XM_054320525.1 → XP_054176500.1 gastric inhibitory polypeptide receptor isoform X4
XM_054320526.1 → XP_054176501.1 gastric inhibitory polypeptide receptor isoform X5
XM_054320528.1 → XP_054176503.1 gastric inhibitory polypeptide receptor isoform X7
XM_054320529.1 → XP_054176504.1 gastric inhibitory polypeptide receptor isoform X8
XM_054320530.1 → XP_054176505.1 gastric inhibitory polypeptide receptor isoform X9

UniProtKB/TrEMBL

K7EPD9
XM_054320522.1 → XP_054176497.1 gastric inhibitory polypeptide receptor isoform X1
XM_054320527.1 → XP_054176502.1 gastric inhibitory polypeptide receptor isoform X6