UCN2

urocortin 2, the group of Neuropeptides

Basic information

Region (hg38): 3:48561718-48563781

Links

ENSG00000145040

∙ NCBI:90226 ∙ OMIM:605902 ∙ HGNC:18414 ∙ Uniprot:Q96RP3 ∙ 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 UCN2 gene.

not_specified (26 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UCN2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033199.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			25 clinvar	1 clinvar		26
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	25	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UCN2	protein_coding	protein_coding	ENST00000273610	1	2047

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0379	0.656	124315	1	25	124341	0.000105

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.187	61	65.3	0.935	0.00000422	681
Missense in Polyphen		4	3.601	1.1108		38
Synonymous	-0.294	30	28.0	1.07	0.00000173	260
Loss of Function	0.419	2	2.75	0.727	1.99e-7	24

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000252	0.000242
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000960	0.0000930
European (Non-Finnish)	0.000166	0.000161
Middle Eastern	0.00	0.00
South Asian	0.0000340	0.0000329
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: 0.0860

Intolerance Scores

loftool: 0.148
rvis_EVS: -0.05
rvis_percentile_EVS: 49.39

Haploinsufficiency Scores

pHI: 0.0297
hipred: N
hipred_score: 0.123
ghis: 0.396

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Ucn2
Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype;

Gene ontology

Biological process: adenylate cyclase-activating G protein-coupled receptor signaling pathway;digestion;hormone-mediated signaling pathway;regulation of signaling receptor activity;cellular response to nutrient levels
Cellular component: extracellular region;extracellular space
Molecular function: hormone activity;hormone binding;corticotropin-releasing hormone receptor binding;corticotropin-releasing hormone receptor 2 binding