UCN2
Basic information
Region (hg38): 3:48561717-48563781
Links
Phenotypes
GenCC
Source:
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 UCN2 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 | 8 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 8 | 0 | 0 |
Variants in UCN2
This is a list of pathogenic ClinVar variants found in the UCN2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 3-48562814-C-T | not specified | Uncertain significance (May 11, 2022) | ||
| 3-48562819-G-T | not specified | Uncertain significance (Feb 08, 2023) | ||
| 3-48562884-C-T | not specified | Uncertain significance (May 23, 2024) | ||
| 3-48562911-T-G | not specified | Uncertain significance (Jan 10, 2022) | ||
| 3-48562913-C-T | not specified | Uncertain significance (Jan 31, 2023) | ||
| 3-48562916-G-A | not specified | Uncertain significance (Nov 29, 2023) | ||
| 3-48562929-G-A | not specified | Uncertain significance (Oct 06, 2022) | ||
| 3-48562931-G-A | not specified | Uncertain significance (Mar 06, 2023) | ||
| 3-48563034-G-A | not specified | Uncertain significance (Aug 31, 2022) |
GnomAD
Source:
| 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:
- 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