UCN3

urocortin 3, the group of Neuropeptides

Basic information

Region (hg38): 10:5364966-5374692

Links

ENSG00000178473 ∙ NCBI:114131 ∙ OMIM:605901 ∙ HGNC:17781 ∙ Uniprot:Q969E3 ∙ 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 UCN3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UCN3 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				2	1	3
missense			23	2		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	4	1

Variants in UCN3

This is a list of pathogenic ClinVar variants found in the UCN3 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-5373790-C-A		not specified	Uncertain significance (Sep 12, 2023)
10-5373800-A-C		not specified	Uncertain significance (Oct 04, 2024)
10-5373806-C-A		not specified	Uncertain significance (Oct 26, 2021)
10-5373856-G-A		not specified	Likely benign (Jan 20, 2023)
10-5373861-G-C		not specified	Uncertain significance (Nov 11, 2024)
10-5373871-G-A		not specified	Likely benign (Jan 19, 2022)
10-5373874-T-A		not specified	Uncertain significance (Jul 25, 2023)
10-5373893-G-A		not specified	Uncertain significance (Mar 28, 2023)
10-5373919-G-A		not specified	Uncertain significance (Sep 27, 2021)
10-5373926-C-T		not specified	Uncertain significance (Dec 14, 2023)
10-5373968-T-A		not specified	Uncertain significance (Aug 05, 2024)
10-5373983-G-A		not specified	Uncertain significance (May 11, 2022)
10-5373998-C-T		not specified	Uncertain significance (Jan 24, 2024)
10-5374000-C-T		not specified	Uncertain significance (Jan 03, 2024)
10-5374001-G-A		not specified	Uncertain significance (Jan 24, 2024)
10-5374042-C-T		not specified	Uncertain significance (Sep 08, 2024)
10-5374052-C-T		not specified	Uncertain significance (May 07, 2024)
10-5374053-G-A			Benign (May 16, 2018)
10-5374057-A-G		not specified	Uncertain significance (Jun 23, 2021)
10-5374085-T-C		not specified	Uncertain significance (Dec 16, 2023)
10-5374092-C-G			Likely benign (May 21, 2018)
10-5374095-C-T			Likely benign (Jun 01, 2018)
10-5374141-A-C		not specified	Uncertain significance (Mar 06, 2023)
10-5374146-C-A		not specified	Uncertain significance (Feb 22, 2023)
10-5374148-T-C		not specified	Uncertain significance (Oct 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UCN3	protein_coding	protein_coding	ENST00000380433	1	9198

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0439	0.682	125732	0	7	125739	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.143	103	99.0	1.04	0.00000618	1034
Missense in Polyphen		21	22.825	0.92005		188
Synonymous	-0.0997	47	46.1	1.02	0.00000297	346
Loss of Function	0.550	2	3.03	0.659	1.28e-7	43

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000157	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000358	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Suppresses food intake, delays gastric emptying and decreases heat-induced edema. Might represent an endogenous ligand for maintaining homeostasis after stress.
• Pathway: Glucocorticoid Pathway (HPA Axis), Pharmacodynamics;Signaling by GPCR;Signal Transduction;Class B/2 (Secretin family receptors);GPCR ligand binding (Consensus)

Recessive Scores

• pRec: 0.197

Intolerance Scores

• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.51

Haploinsufficiency Scores

• pHI: 0.112
• hipred: N
• hipred_score: 0.201
• ghis: 0.459

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.362

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ucn3
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; endocrine/exocrine gland 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); reproductive system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: adenylate cyclase-activating G protein-coupled receptor signaling pathway;digestion;response to glucose;hormone-mediated signaling pathway;regulation of signaling receptor activity;cellular response to nutrient levels;positive regulation of insulin secretion;response to immobilization stress;response to starvation;positive regulation of membrane potential;response to corticosterone;cellular response to hypoxia
• Cellular component: extracellular region;extracellular space;varicosity;axon terminus
• Molecular function: hormone activity;corticotropin-releasing hormone receptor binding;corticotropin-releasing hormone receptor 2 binding