UCN
urocortin, the group of Neuropeptides
Basic information
Region (hg38): 2:27307400-27308445
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the UCN 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 | 0 | |||||
| missense | 11 | 12 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 11 | 1 | 0 |
Variants in UCN
This is a list of pathogenic ClinVar variants found in the UCN region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 2-27307531-A-C | not specified | Uncertain significance (Feb 08, 2025) | ||
| 2-27307558-T-A | not specified | Uncertain significance (Jun 16, 2023) | ||
| 2-27307586-G-A | not specified | Uncertain significance (Dec 28, 2023) | ||
| 2-27307595-C-G | not specified | Uncertain significance (Feb 28, 2025) | ||
| 2-27307651-C-T | not specified | Uncertain significance (May 22, 2023) | ||
| 2-27307657-G-T | not specified | Uncertain significance (Aug 12, 2024) | ||
| 2-27307661-G-A | not specified | Uncertain significance (Apr 19, 2024) | ||
| 2-27307676-C-T | not specified | Likely benign (Feb 22, 2023) | ||
| 2-27307684-A-G | not specified | Uncertain significance (Apr 22, 2022) | ||
| 2-27307702-C-T | not specified | Uncertain significance (Dec 01, 2022) | ||
| 2-27307736-G-C | not specified | Uncertain significance (Jul 26, 2024) | ||
| 2-27307754-C-A | not specified | Uncertain significance (Jan 24, 2025) | ||
| 2-27307766-C-T | not specified | Uncertain significance (Jun 19, 2024) | ||
| 2-27307820-T-C | not specified | Uncertain significance (Apr 25, 2022) | ||
| 2-27307838-A-C | not specified | Uncertain significance (Feb 05, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| UCN | protein_coding | protein_coding | ENST00000296099 | 1 | 1046 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.450 | 0.460 | 122701 | 0 | 12 | 122713 | 0.0000489 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.151 | 52 | 55.1 | 0.943 | 0.00000251 | 739 |
| Missense in Polyphen | 20 | 22.274 | 0.89793 | 296 | ||
| Synonymous | 0.603 | 25 | 29.1 | 0.858 | 0.00000134 | 300 |
| Loss of Function | 1.13 | 0 | 1.49 | 0.00 | 6.79e-8 | 18 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000233 | 0.000233 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000195 | 0.0000182 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000328 | 0.0000328 |
| Other | 0.000168 | 0.000166 |
dbNSFP
Source:
- Function
- FUNCTION: Acts in vitro to stimulate the secretion of adrenocorticotropic hormone (ACTH) (PubMed:8612563). Binds with high affinity to CRF receptor types 1, 2-alpha, and 2-beta (PubMed:8612563). Plays a role in the establishment of normal hearing thresholds (By similarity). Reduces food intake and regulates ghrelin levels in gastric body and plasma (By similarity). {ECO:0000250|UniProtKB:P55090, ECO:0000250|UniProtKB:P81615, ECO:0000269|PubMed:8612563}.;
- Pathway
- Glucocorticoid Pathway (HPA Axis), Pharmacodynamics;Signaling by GPCR;Signal Transduction;Class B/2 (Secretin family receptors);GPCR ligand binding
(Consensus)
Recessive Scores
- pRec
- 0.209
Haploinsufficiency Scores
- pHI
- 0.116
- hipred
- N
- hipred_score
- 0.367
- ghis
- 0.579
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.847
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ucn
- 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); hearing/vestibular/ear 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
- startle response;inflammatory response;response to oxidative stress;G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;female pregnancy;sensory perception of sound;associative learning;aerobic respiration;regulation of signaling receptor activity;negative regulation of gene expression;response to auditory stimulus;pancreatic juice secretion;positive regulation of cell growth;negative regulation of histone deacetylation;neuron projection development;negative regulation of appetite;response to estradiol;positive regulation of interleukin-6 production;negative regulation of epinephrine secretion;positive regulation of collagen biosynthetic process;positive regulation of peptidyl-serine phosphorylation;activation of protein kinase A activity;social behavior;gastric emptying;drinking behavior;negative regulation of apoptotic process;positive regulation of vascular permeability;positive regulation of cAMP-mediated signaling;positive regulation of translation;positive regulation of DNA replication;negative regulation of blood pressure;negative regulation of cell size;positive regulation of transcription by RNA polymerase II;response to pain;response to glucocorticoid;positive regulation of corticotropin secretion;positive regulation of cortisol secretion;regulation of synaptic transmission, glutamatergic;positive regulation of cardiac muscle contraction;negative regulation of gastric acid secretion;negative regulation of necrotic cell death;negative regulation of glucagon secretion;positive regulation of calcium ion import;positive regulation of blood vessel diameter;negative regulation of neuron death;negative regulation of feeding behavior;positive regulation of behavioral fear response
- Cellular component
- extracellular region;extracellular space;dendrite;varicosity;perikaryon;axon terminus
- Molecular function
- neuropeptide hormone activity;protein binding;corticotropin-releasing hormone activity;histone deacetylase inhibitor activity;corticotropin-releasing hormone receptor 1 binding;corticotropin-releasing hormone receptor 2 binding