GPR161: G Protein-Coupled Receptor 161
A key regulator of primary cilia signaling and neural tube development
Gene Information Card
| Symbol | GPR161 |
|---|---|
| Full Name | G protein-coupled receptor 161 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 23432 ncbi.nlm.nih.gov/gene/23432 |
| Ensembl ID | ENSG00000143147 |
| UniProt ID | Q8N6P3 |
| OMIM ID | 612250 |
| HGNC ID | 23692 |
| Aliases | RE2, GPCR1, GPR161 |
Description
GPR161 encodes a G protein-coupled receptor that localizes to primary cilia and negatively regulates the Hedgehog signaling pathway. It is essential for neural tube closure and embryonic development. Mutations in GPR161 are associated with neural tube defects and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neural tube defects | Loss-of-function mutations impair ciliary localization and Hedgehog repression, leading to failed neural tube closure | PMID: 26077850 |
| Ciliopathy (e.g., Joubert syndrome-related phenotypes) | Disrupted ciliary signaling due to GPR161 deficiency | PMID: 26077850 |
| Congenital heart disease | Potential role in Hedgehog-dependent cardiac development | PMID: 31564432 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Kidney | 4.1 | Low |
| Testis | 6.7 | Medium |
| Lung | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.5 | High expression in ciliated cells |
| SH-SY5Y | 4.3 | Neuronal cell line |
| RPE1 | 7.1 | Ciliated retinal pigment epithelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.830G>A (p.Arg277His) | Missense | Rare | Impaired ciliary localization and Hedgehog repression |
| c.1124T>C (p.Leu375Pro) | Missense | Rare | Reduced protein stability and signaling |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, impairing ciliary targeting or receptor activity, leading to Hedgehog pathway overactivation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • primary cilium |
| • negative regulation of Hedgehog signaling pathway | • cell surface receptor signaling pathway |
| • neural tube closure |
Pathways
• Hedgehog signaling pathway (negative regulation)
• GPCR signaling (cAMP-dependent)
Protein Summary
GPR161 is a 7-transmembrane G protein-coupled receptor that localizes to the primary cilium. It constitutively activates Gαs to increase cAMP levels, thereby inhibiting the Hedgehog signaling pathway. The protein is critical for embryonic patterning and neural tube development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPR161 Knockout HEK293 Cell Line | EDJ-KQ899 | Human | 23432 | Details Get a Quote |
| GPR161 Knockout HeLa Cell Line | EDJ-KQ18403 | Human | 23432 | Details Get a Quote |
| GPR161 Knockout A-549 Cell Line | EDJ-KQ19744 | Human | 23432 | Details Get a Quote |
| GPR161 Knockout HCT 116 Cell Line | EDJ-KQ19745 | Human | 23432 | Details Get a Quote |
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