GeneBe

PRL

prolactin, the group of Neuropeptides|Growth hormone family

Basic information

Region (hg38): 6:22287244-22302826

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_specified (23 variants)
  • not_provided (4 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. These statistics are base on transcript: NM_000000948.6. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
3
clinvar
 4
missense
19
clinvar
4
clinvar
 23
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 19 5 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PRLprotein_codingprotein_codingENST00000306482 510251
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.90e-70.3211256990491257480.000195
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8231111380.8030.000008441470
Missense in Polyphen4556.5890.79521602
Synonymous0.6965157.70.8830.00000347460
Loss of Function0.4771112.80.8568.82e-7119

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007330.000733
Ashkenazi Jewish0.000.00
East Asian0.0006600.000653
Finnish0.00004620.0000462
European (Non-Finnish)0.00007980.0000791
Middle Eastern0.0006600.000653
South Asian0.00006530.0000653
Other0.0001630.000163

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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