CRHR1

Chr 17

corticotropin releasing hormone receptor 1

Also known as: CRF-R, CRF-R-1, CRF-R1, CRF1, CRFR-1, CRFR1, CRH-R-1, CRH-R1

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]

ResearchGenerating clinical summary…
3
Active trials
77
Pubs (1 yr)
P/LP submissions
P/LP missense
0.71
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.71LOEUF
pLI 0.000
Z-score 2.71
OE 0.44 (0.280.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.73Z-score
OE missense 0.71 (0.630.80)
196 obs / 277.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.280.71)
00.351.4
Missense OE?0.71 (0.630.80)
00.61.4
Synonymous OE?0.91
01.21.6
LoF obs/exp: 12 / 27.2Missense obs/exp: 196 / 277.0Syn Z: 0.76

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CRHR1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.