PRL
prolactin, the group of Neuropeptides|Growth hormone family
Basic information
Region (hg38): 6:22287244-22302826
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 PRL 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 | 4 | |||||
| missense | 7 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 5 | 3 | 3 |
Variants in PRL
This is a list of pathogenic ClinVar variants found in the PRL region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 6-22287456-G-A | Likely benign (Mar 29, 2018) | |||
| 6-22287467-A-C | not specified | Uncertain significance (Jan 22, 2024) | ||
| 6-22290233-C-T | not specified | Likely benign (Apr 13, 2022) | ||
| 6-22290279-T-G | not specified | Uncertain significance (Apr 01, 2024) | ||
| 6-22292550-G-A | Benign (Jan 25, 2018) | |||
| 6-22292568-G-A | Benign (Mar 29, 2018) | |||
| 6-22292572-G-A | not specified | Uncertain significance (Sep 13, 2023) | ||
| 6-22292587-G-A | not specified | Uncertain significance (May 16, 2024) | ||
| 6-22292590-T-C | not specified | Uncertain significance (Nov 12, 2021) | ||
| 6-22292623-C-A | not specified | Uncertain significance (Oct 17, 2023) | ||
| 6-22292624-G-A | not specified | Uncertain significance (Jan 30, 2024) | ||
| 6-22292638-C-T | not specified | Likely benign (Oct 20, 2021) | ||
| 6-22294443-A-G | not specified | Uncertain significance (Mar 25, 2024) | ||
| 6-22294535-C-T | Benign (Jan 25, 2018) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PRL | protein_coding | protein_coding | ENST00000306482 | 5 | 10251 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 2.90e-7 | 0.321 | 125699 | 0 | 49 | 125748 | 0.000195 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.823 | 111 | 138 | 0.803 | 0.00000844 | 1470 |
| Missense in Polyphen | 45 | 56.589 | 0.79521 | 602 | ||
| Synonymous | 0.696 | 51 | 57.7 | 0.883 | 0.00000347 | 460 |
| Loss of Function | 0.477 | 11 | 12.8 | 0.856 | 8.82e-7 | 119 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000733 | 0.000733 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000660 | 0.000653 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000798 | 0.0000791 |
| Middle Eastern | 0.000660 | 0.000653 |
| South Asian | 0.0000653 | 0.0000653 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Prolactin acts primarily on the mammary gland by promoting lactation.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Jak-STAT signaling pathway - Homo sapiens (human);Prolactin signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);JAK-STAT-Core;Prolactin Signaling Pathway;JAK-STAT;EV release from cardiac cells and their functional effects;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Prostaglandin Synthesis and Regulation;Prolactin receptor signaling;Prolactin;Cytokine Signaling in Immune system;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Immune System;ErbB4 signaling events;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;Glucocorticoid receptor regulatory network;GPCR signaling-G alpha i;Validated nuclear estrogen receptor alpha network;Signaling events mediated by PTP1B
(Consensus)
Recessive Scores
- pRec
- 0.854
Intolerance Scores
- loftool
- 0.297
- rvis_EVS
- -0.16
- rvis_percentile_EVS
- 41.64
Haploinsufficiency Scores
- pHI
- 0.193
- hipred
- N
- hipred_score
- 0.458
- ghis
- 0.531
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.901
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Prl
- Phenotype
- neoplasm; reproductive system phenotype; liver/biliary system 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); endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype;
Zebrafish Information Network
- Gene name
- prl
- Affected structure
- xanthophore
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- negative regulation of endothelial cell proliferation;cell surface receptor signaling pathway;female pregnancy;parturition;response to nutrient;lactation;circadian rhythm;cell population proliferation;positive regulation of cell population proliferation;regulation of signaling receptor activity;negative regulation of angiogenesis;regulation of ossification;mammary gland development;response to nutrient levels;response to estradiol;response to lipopolysaccharide;multicellular organismal response to stress;regulation of multicellular organism growth;ovulation cycle;cellular protein metabolic process;response to ethanol;positive regulation of JAK-STAT cascade;positive regulation of epithelial cell proliferation;JAK-STAT cascade involved in growth hormone signaling pathway;positive regulation of pri-miRNA transcription by RNA polymerase II;positive regulation of lactation
- Cellular component
- extracellular region;extracellular space;secretory granule;endosome lumen
- Molecular function
- prolactin receptor binding;hormone activity;protein binding