GIPR

gastric inhibitory polypeptide receptor, the group of Glucagon receptor family|MicroRNA protein coding host genes

Basic information

Region (hg38): 19:45668220-45683722

Links

ENSG00000010310 ∙ NCBI:2696 ∙ OMIM:137241 ∙ HGNC:4271 ∙ Uniprot:P48546 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GIPR gene.

• Inborn genetic diseases (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GIPR gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	0

Variants in GIPR

This is a list of pathogenic ClinVar variants found in the GIPR region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-45669542-C-G		not specified	Uncertain significance (Aug 09, 2021)
19-45669554-C-G		not specified	Uncertain significance (Sep 25, 2023)
19-45669567-G-A		not specified	Uncertain significance (Feb 16, 2023)
19-45669569-G-A		not specified	Uncertain significance (Mar 01, 2023)
19-45669588-C-G		not specified	Uncertain significance (Dec 27, 2022)
19-45670654-C-A		not specified	Uncertain significance (Oct 05, 2021)
19-45670663-A-G		not specified	Uncertain significance (Sep 15, 2021)
19-45670669-A-C		not specified	Uncertain significance (Nov 28, 2023)
19-45671309-A-T		not specified	Uncertain significance (Nov 07, 2023)
19-45672901-C-G		not specified	Uncertain significance (Nov 21, 2022)
19-45674076-C-A		not specified	Uncertain significance (Dec 13, 2022)
19-45674108-T-C		not specified	Uncertain significance (Nov 01, 2021)
19-45677097-T-A		not specified	Uncertain significance (Oct 03, 2022)
19-45677711-T-C		not specified	Uncertain significance (Jul 26, 2021)
19-45677753-C-T		not specified	Uncertain significance (Apr 25, 2022)
19-45677766-T-G		not specified	Uncertain significance (Jan 31, 2022)
19-45677768-A-G		not specified	Uncertain significance (Sep 29, 2022)
19-45678141-T-C		not specified	Uncertain significance (Apr 25, 2022)
19-45678182-C-A		not specified	Uncertain significance (Feb 11, 2022)
19-45681744-C-A		not specified	Uncertain significance (Apr 25, 2023)
19-45681765-C-T		not specified	Uncertain significance (Mar 07, 2024)
19-45681777-A-G		not specified	Uncertain significance (May 04, 2022)
19-45681778-G-T		not specified	Uncertain significance (Jan 05, 2022)
19-45681873-T-A		not specified	Uncertain significance (Jan 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GIPR	protein_coding	protein_coding	ENST00000590918	13	15481

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.97e-29	0.00000158	125471	0	277	125748	0.00110

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.960	299	256	1.17	0.0000137	2919
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00135	0.00134
Ashkenazi Jewish	0.000603	0.000595
East Asian	0.00809	0.00797
Finnish	0.00111	0.00111
European (Non-Finnish)	0.000417	0.000413
Middle Eastern	0.00809	0.00797
South Asian	0.000622	0.000621
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: This is a receptor for GIP. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase.
• Pathway: cAMP signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class B Secretin-like;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;Glucagon-type ligand receptors;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.167

Intolerance Scores

• loftool: 0.964
• rvis_EVS: 0.69
• rvis_percentile_EVS: 85.18

Haploinsufficiency Scores

• pHI: 0.418
• hipred: N
• hipred_score: 0.238
• ghis: 0.537

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.601

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Gipr
• Phenotype: endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype

Gene ontology

• 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;positive regulation of cytosolic calcium ion concentration;response to nutrient;response to glucose;endocrine pancreas development;positive regulation of insulin secretion;gastric inhibitory peptide signaling pathway;positive regulation of cAMP-mediated signaling;response to axon injury;regulation of insulin secretion;response to calcium ion;response to fatty acid
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: transmembrane signaling receptor activity;protein binding;G protein-coupled peptide receptor activity;gastric inhibitory peptide receptor activity;peptide hormone binding