CRHR1

corticotropin releasing hormone receptor 1, the group of Corticotropin releasing hormone receptors

Basic information

Region (hg38): 17:45784276-45835828

Previous symbols: [ "CRHR" ]

Links

ENSG00000120088 ∙ NCBI:1394 ∙ OMIM:122561 ∙ HGNC:2357 ∙ Uniprot:P34998 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CRHR1 gene.

• Inborn genetic diseases (9 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRHR1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	2	3
missense			7	1	2	10
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					2	2
Total	0	0	8	2	6

Variants in CRHR1

This is a list of pathogenic ClinVar variants found in the CRHR1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-45807010-G-A		not specified	Uncertain significance (Jan 08, 2024)
17-45807037-G-A		not specified	Likely benign (Aug 23, 2021)
17-45807072-C-A		not specified	Uncertain significance (Sep 26, 2023)
17-45816483-G-A		not specified	Uncertain significance (Jan 09, 2024)
17-45816518-T-C			Benign (Dec 31, 2019)
17-45816520-C-T			Benign (Dec 31, 2019)
17-45816525-C-A		not specified	Uncertain significance (Jun 21, 2022)
17-45821396-G-A		not specified	Uncertain significance (Jun 30, 2022)
17-45821425-G-A			Likely benign (Jun 25, 2018)
17-45829613-G-T		CRHR1-related disorder	Likely benign (May 22, 2023)
17-45829614-C-A		CRHR1-related disorder	Likely benign (Dec 28, 2022)
17-45830084-G-A			Benign (Dec 31, 2019)
17-45830096-G-A		not specified	Uncertain significance (Oct 30, 2023)
17-45830101-C-T		not specified	Uncertain significance (Jan 08, 2024)
17-45830157-C-T		not specified	Likely benign (Feb 13, 2024)
17-45830185-A-G		not specified	Uncertain significance (May 17, 2023)
17-45830209-A-G		not specified	Uncertain significance (Dec 04, 2023)
17-45830212-G-A		not specified	Uncertain significance (Mar 31, 2023)
17-45830440-C-T			Benign (Jan 05, 2018)
17-45833479-G-A		not specified	Uncertain significance (May 31, 2023)
17-45833805-C-T		not specified	Uncertain significance (Aug 02, 2021)
17-45833811-G-A		not specified	Uncertain significance (Jan 18, 2022)
17-45834654-C-T		not specified	Uncertain significance (Nov 21, 2022)
17-45834663-G-A		not specified	Uncertain significance (Oct 14, 2023)
17-45834687-G-A			Benign (Sep 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CRHR1	protein_coding	protein_coding	ENST00000398285	14	213928

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000379	0.998	125188	0	70	125258	0.000279

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.73	196	277	0.708	0.0000173	2889
Missense in Polyphen		29	70.499	0.41135		759
Synonymous	0.763	101	111	0.908	0.00000690	873
Loss of Function	2.71	12	27.2	0.440	0.00000131	283

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000646	0.000642
Ashkenazi Jewish	0.000252	0.000199
East Asian	0.000289	0.000277
Finnish	0.000884	0.000835
European (Non-Finnish)	0.000157	0.000150
Middle Eastern	0.000289	0.000277
South Asian	0.000280	0.000261
Other	0.000787	0.000656

dbNSFP

Source: dbNSFP

• Function: FUNCTION: G-protein coupled receptor for CRH (corticotropin- releasing factor) and UCN (urocortin). Has high affinity for CRH and UCN. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and down-stream effectors, such as adenylate cyclase. Promotes the activation of adenylate cyclase, leading to increased intracellular cAMP levels. Inhibits the activity of the calcium channel CACNA1H. Required for normal embryonic development of the adrenal gland and for normal hormonal responses to stress. Plays a role in the response to anxiogenic stimuli. {ECO:0000269|PubMed:18292205, ECO:0000269|PubMed:18801728, ECO:0000269|PubMed:23576434, ECO:0000269|PubMed:23863939}.
• Pathway: Cushing,s syndrome - Homo sapiens (human);Long-term depression - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Glucocorticoid Pathway (HPA Axis), Pharmacodynamics;Corticotropin-releasing hormone signaling pathway;Myometrial Relaxation and Contraction Pathways;GPCRs, Class B Secretin-like;Serotonin and anxiety-related events;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;CRH;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.389

Intolerance Scores

• loftool: 0.701
• rvis_EVS: -0.09
• rvis_percentile_EVS: 46.92

Haploinsufficiency Scores

• pHI: 0.208
• hipred: Y
• hipred_score: 0.837
• ghis: 0.612

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.719

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Crhr1
• Phenotype: endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: immune response;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;female pregnancy;parturition;hormone-mediated signaling pathway;regulation of adenylate cyclase activity involved in G protein-coupled receptor signaling pathway;corticotropin secretion;cellular response to corticotropin-releasing hormone stimulus;negative regulation of voltage-gated calcium channel activity;regulation of corticosterone secretion
• Cellular component: endosome;plasma membrane;integral component of plasma membrane;integral component of membrane;intrinsic component of plasma membrane
• Molecular function: protein binding;corticotrophin-releasing factor receptor activity;peptide hormone binding;corticotropin-releasing hormone receptor activity;corticotropin-releasing hormone binding