CRHR2

corticotropin releasing hormone receptor 2, the group of Corticotropin releasing hormone receptors

Basic information

Region (hg38): 7:30651941-30700129

Links

ENSG00000106113 ∙ NCBI:1395 ∙ OMIM:602034 ∙ HGNC:2358 ∙ Uniprot:Q13324 ∙ 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 CRHR2 gene.

• Inborn genetic diseases (19 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRHR2 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	1
missense			18	2	1	21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	18	2	2

Variants in CRHR2

This is a list of pathogenic ClinVar variants found in the CRHR2 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-30653465-C-T			Benign (Jul 26, 2018)
7-30653473-G-A		not specified	Uncertain significance (Jan 17, 2024)
7-30653516-G-A		not specified	Uncertain significance (Jul 14, 2022)
7-30653597-G-A		not specified	Uncertain significance (Dec 20, 2023)
7-30655603-T-C		not specified	Uncertain significance (Jul 11, 2023)
7-30655622-C-G		not specified	Uncertain significance (Sep 17, 2021)
7-30655662-A-G		not specified	Uncertain significance (Nov 08, 2022)
7-30655713-T-C			Likely benign (Aug 16, 2018)
7-30655929-G-A			Uncertain significance (-)
7-30655940-T-C		not specified	Uncertain significance (May 11, 2022)
7-30655954-G-A		not specified	Uncertain significance (Sep 17, 2021)
7-30655961-G-A		not specified	Uncertain significance (Aug 15, 2023)
7-30656017-A-T			Likely benign (Aug 21, 2018)
7-30660618-G-C		not specified	Uncertain significance (Jan 19, 2024)
7-30660620-C-T		not specified	Uncertain significance (Apr 19, 2023)
7-30662171-T-C		not specified	Uncertain significance (Feb 06, 2024)
7-30662205-G-A		not specified	Uncertain significance (Oct 03, 2022)
7-30662216-C-T		not specified	Uncertain significance (Apr 05, 2023)
7-30662729-C-T		not specified	Uncertain significance (Jun 24, 2022)
7-30662730-G-A		not specified	Uncertain significance (Jan 26, 2022)
7-30662811-A-T		not specified	Uncertain significance (Sep 15, 2021)
7-30662814-A-T		not specified	Uncertain significance (Jun 22, 2021)
7-30665541-G-T		not specified	Uncertain significance (Dec 11, 2023)
7-30665612-T-C		not specified	Likely benign (Jul 11, 2023)
7-30665618-A-G		not specified	Uncertain significance (Sep 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CRHR2	protein_coding	protein_coding	ENST00000348438	13	47546

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.55e-17	0.0169	125346	1	401	125748	0.00160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.749	229	263	0.870	0.0000161	2832
Missense in Polyphen		112	118.92	0.94183		1304
Synonymous	1.35	90	108	0.835	0.00000684	830
Loss of Function	0.381	26	28.2	0.923	0.00000142	295

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00181	0.00181
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.000163	0.000163
Finnish	0.00458	0.00444
European (Non-Finnish)	0.00224	0.00219
Middle Eastern	0.000163	0.000163
South Asian	0.000164	0.000163
Other	0.00131	0.00130

dbNSFP

Source: dbNSFP

• Function: FUNCTION: G-protein coupled receptor for CRH (corticotropin- releasing factor), UCN (urocortin), UCN2 and UCN3. Has high affinity for 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.
• Pathway: Cushing,s syndrome - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Glucocorticoid Pathway (HPA Axis), Pharmacodynamics;Corticotropin-releasing hormone signaling pathway;GPCRs, Class B Secretin-like;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: 0.154

Intolerance Scores

• loftool: 0.865
• rvis_EVS: 0.69
• rvis_percentile_EVS: 85.18

Haploinsufficiency Scores

• pHI: 0.0680
• hipred: N
• hipred_score: 0.457
• ghis: 0.421

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.631

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Crhr2
• Phenotype: 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;hormone-mediated signaling pathway;long-term synaptic potentiation;cellular response to corticotropin-releasing hormone stimulus
• Cellular component: plasma membrane;integral component of plasma membrane;axon;dendrite;axon terminus
• Molecular function: protein binding;corticotrophin-releasing factor receptor activity;peptide hormone binding;corticotropin-releasing hormone receptor activity