PRL

prolactin, the group of Neuropeptides|Growth hormone family

Basic information

Region (hg38): 6:22287243-22302826

Links

ENSG00000172179 ∙ NCBI:5617 ∙ OMIM:176760 ∙ HGNC:9445 ∙ Uniprot:P01236 ∙ 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 PRL gene.

• not provided (4 variants)
• Inborn genetic diseases (3 variants)

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				1	3	4
missense			2	1		3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	2	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)
6-22292550-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)
6-22292590-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)
6-22294535-C-T			Benign (Jan 25, 2018)

GnomAD

Source: gnomAD

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: dbNSFP

• 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