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GIPR

Synonyms
PGQTL2
External resources
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
77
Likely pathogenic
12
VUS
4,944
Likely benign
2,175
Benign
0

Patient Phenotypes

Proportions of phenotypes among 89 patients carrying pathogenic or likely pathogenic variants on GIPR gene are displayed below. The following symptoms were found in patients with a variant in GIPR. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.1%
Abnormality of the musculoskeletal system
30.3%
Abnormality of head or neck
25.8%
Abnormality of the eye
24.7%
Growth abnormality
18%
Abnormality of the ear
16.9%
Abnormality of the cardiovascular system
13.5%
Abnormality of limbs
11.2%
Abnormality of the integument
11.2%
Abnormality of the genitourinary system
9%
Abnormality of metabolism homeostasis
7.9%
Abnormality of the endocrine system
7.9%
Abnormality of prenatal development or birth
6.7%
Abnormality of blood and blood forming tissues
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the immune system
4.5%
Abnormality of the respiratory system
4.5%
Abnormality of the breast
1.1%
Neoplasm
1.1%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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