GIPR
protein-codinggastric inhibitory polypeptide receptor, the group of Glucagon receptor family|MicroRNA protein coding host genes
Gene 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]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~15.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to GIPR variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_000164.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | 2 | |||
| missense | 49 | 49 | ||||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 53 | 1 | 0 | 54 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_000155.1 | 13 | MANE Select | |
| Ensembl | ENSP00000467494.1 | 13 | MANE Select | |
| RefSeq | NP_001295347.1 | 12 | Standard | |
| Ensembl | ENSP00000263281.3 | 12 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- cAMP signaling pathway - Homo sapiens (human)
- Neuroactive ligand-receptor interaction - Homo sapiens (human)
- GPCRs, Class B Secretin-like
- Signaling by GPCR
- Signal Transduction
Biological Process
- desensitization of G protein-coupled receptor signaling pathway
- generation of precursor metabolites and energy
- cell surface receptor signaling pathway
- G protein-coupled receptor signaling pathway
- activation of adenylate cyclase activity
Molecular Function
- transmembrane signaling receptor activity
- protein binding
- G protein-coupled peptide receptor activity
- gastric inhibitory peptide receptor activity
- peptide hormone binding
Cellular Component
- plasma membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000590918
- Coding exons
- 13
- Length
- 15481
- Individuals with no LoFs
- 125471
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 277
- Defined
- 125748
- p
- 0.00110
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.960 | 299 | 256 | 1.17 | 0.0000137 | 2919 |
| Missense (PolyPhen) | 123 | 89.938 | 1.3676 | 1130 | ||
| Synonymous | 0.769 | 102 | 112 | 0.908 | 0.00000615 | 974 |
| Loss of Function | -1.73 | 38 | 28.1 | 1.35 | 0.00000146 | 276 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00050 | 0.00049 | rare |
| Latino/Admixed American | 0.00084 | 0.00072 | rare |
| Ashkenazi Jewish | 0.00060 | 0.00060 | rare |
| East Asian | 0.0081 | 0.0080 | notable |
| Finnish | 0.0011 | 0.0011 | notable |
| European (Non-Finnish) | 0.00042 | 0.00041 | rare |
| South Asian | 0.00062 | 0.00062 | rare |
| Other | 0.00033 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: This is a receptor for GIP. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase.;
Recessive Scores
- pRec
- 0.167
Intolerance Scores
- LoFtool
- 0.964
- RVIS EVS
- 0.69
- RVIS percentile EVS
- 85.18
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.601
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |