G Protein-Coupled Receptor 103

Alternative Names

GPR103
SP9155
AQ27
QRFPR

OMIM Number

Gene Map Locus

4q27

Description

The QRFPR gene encodes the G-protein coupled receptor 103 protein. This protein acts as a receptor for the orexigenic neuropeptide QRFP. Like other G-protein coupled receptors, the QRFPR protein contains 7 transmembrane domains and is an integral component of the plasma membrane. It carries out its receptor activity and transduces extracellular signals through heterotrimeric G proteins. The protein plays an important role in the cellular response to hormone stimulus.

Molecular Genetics

The QRFPR gene is located on the long arm of chromosome 4. It spans a length of about 53.8 kb of DNA and its coding sequence is spread across 7 exons. The protein encoded by the QRFPR gene is 49 kDa in mass and consists of 431 amino acids. The gene is found to be expressed in the retina, heart, kidney, testis and thyroid. However, highest expression of the gene is seen in the brain, particularly in the hypothalamus, trigeminal ganglia and vestibular neurons.

Epidemiology in the Arab World

View Map

Saudi Arabia

Other Reports

Saudi Arabia

Anazi et al. (2016) studied a cohort of 337 Intellectual Disability (ID) patients to determine the effectiveness of genomic tools as a diagnostic test. It was found that the genomic approach had a higher diagnostic yield than standard clinical evaluations (58% vs 16%). By using exome sequencing, a homozygous c.373C>T (p.Gln125*) mutation was uncovered in the QRFPR gene of a 9 year old Saudi boy. The child was born to first-degree consanguineous parents and suffered from global developmental delay, ADHD, microcephaly and facial dysmorphia. The authors noted that in ADHD rat model studies, the Qrfpr gene has been found to be downregulated in the prefrontal cortex. Further, the identified mutation was suggested to be pathogenic as it was a loss-of-function variant, had a minor allele frequency <0.001 based on 1500 Saudi exomes, fully segregated with the phenotype and there were no other candidate variants.

External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=QRFPR

Contributors

Sayeeda Hana: 22.01.2017

Edit History

Sami Bizzari: 17.05.2017

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