CRHR1 corticotropin releasing hormone receptor 1
Gene ID: 1394, updated on 5-Mar-2024Gene type: protein coding
Also known as: CRF1; CRHR; CRF-R; CRFR1; CRF-R1; CRFR-1; CRH-R1; CRHR1L; CRF-R-1; CRH-R-1
- See all available tests in GTR for this gene
- Go to complete Gene record for CRHR1
- Go to Variation Viewer for CRHR1 variants
Summary
This gene encodes a G-protein coupled receptor that binds neuropeptides of the corticotropin releasing hormone family that are major regulators of the hypothalamic-pituitary-adrenal pathway. The encoded protein is essential for the activation of signal transduction pathways that regulate diverse physiological processes including stress, reproduction, immune response and obesity. Alternative splicing results in multiple transcript variants. Naturally-occurring readthrough transcription between this gene and upstream GeneID:147081 results in transcripts that encode isoforms that share similarity with the products of this gene. [provided by RefSeq, Aug 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants at 12q15 and 12q24 are associated with infant head circumference. GeneReviews: Not available | |
| Common variants at 6q22 and 17q21 are associated with intracranial volume. GeneReviews: Not available | |
| Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. GeneReviews: Not available | |
| Genome-wide association study reveals genetic risk underlying Parkinson's disease. GeneReviews: Not available | |
| Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. GeneReviews: Not available | |
| Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation Page |
Genomic context
- Location:
- 17q21.31
- Sequence:
- Chromosome: 17; NC_000017.11 (45784320..45835828)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CRHR1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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