Gene Gene information from NCBI Gene database.
Entrez ID 5618
Gene name Prolactin receptor
Gene symbol PRLR
Synonyms (NCBI Gene)
HPRLMFABRI-PRLRhPRLrI
Chromosome 5
Chromosome location 5p13.2
Summary This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternativ
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs72478580 T>G Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, non coding transcript variant
rs376188691 G>A,T Pathogenic Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs398122522 T>C Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs754974807 G>A Pathogenic Non coding transcript variant, missense variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
1825
miRTarBase ID miRNA Experiments Reference
MIRT025183 hsa-miR-181a-5p Microarray 17612493
MIRT666815 hsa-miR-5680 HITS-CLIP 23824327
MIRT666814 hsa-miR-5579-5p HITS-CLIP 23824327
MIRT666813 hsa-miR-6832-3p HITS-CLIP 23824327
MIRT666812 hsa-miR-1249-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0004896 Function Cytokine receptor activity IEA
GO:0004925 Function Prolactin receptor activity IBA
GO:0004925 Function Prolactin receptor activity IDA 10585417
GO:0004925 Function Prolactin receptor activity IEA
GO:0005515 Function Protein binding IPI 12819209, 22325776, 23048206, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176761 9446 ENSG00000113494
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P16471
Protein name Prolactin receptor (PRL-R)
Protein function This is a receptor for the anterior pituitary hormone prolactin (PRL). Acts as a prosurvival factor for spermatozoa by inhibiting sperm capacitation through suppression of SRC kinase activation and stimulation of AKT. Isoform 4 is unable to tran
PDB 1BP3 , 2LFG , 2N7I , 3D48 , 3MZG , 3N06 , 3N0P , 3NCB , 3NCC , 3NCE , 3NCF , 4I18
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09067 EpoR_lig-bind 22 120 Erythropoietin receptor, ligand binding Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in breast, placenta, kidney, liver and pancreas. {ECO:0000269|PubMed:11518703, ECO:0000269|PubMed:12580759}.
Sequence
MKENVASATVFTLLLFLNTCLLNGQLPPGKPEIFKCRSPNKETFTCWWRPGTDGGLPTNY
SLTYHREGETLMHECPDYITGGPNSCHFGKQYTSMWRTYIMMVNATNQMGSSFSDELYVD

VTYIVQPDPPLELAVEVKQPEDRKPYLWIKWSPPTLIDLKTGWFTLLYEIRLKPEKAAEW
EIHFAGQQTEFKILSLHPGQKYLVQVRCKPDHGYWSAWSPATFIQIPSDFTMNDTTVWIS
VAVLSAVICLIIVWAVALKGYSMVTCIFPPVPGPKIKGFDAHLLEKGKSEELLSALGCQD
FPPTSDYEDLLVEYLEVDDSEDQHLMSVHSKEHPSQGMKPTYLDPDTDSGRGSCDSPSLL
SEKCEEPQANPSTFYDPEVIEKPENPETTHTWDPQCISMEGKIPYFHAGGSKCSTWPLPQ
PSQHNPRSSYHNITDVCELAVGPAGAPATLLNEAGKDALKSSQTIKSREEGKATQQREVE
SFHSETDQDTPWLLPQEKTPFGSAKPLDYVEIHKVNKDGALSLLPKQRENSGKPKKPGTP
ENNKEYAKVSGVMDNNILVLVPDPHAKNVACFEESAKEAPPSLEQNQAEKALANFTATSS
KCRLQLGGLDYLDPACFTHSFH
Sequence length 622
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
Neuroactive ligand-receptor interaction
Hormone signaling
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Prolactin signaling pathway
  Prolactin receptor signaling
Growth hormone receptor signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
13
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial hyperprolactinemia Pathogenic rs376188691, rs754974807, rs398122522 RCV000735945
RCV000735946
RCV000074500
Premature ovarian failure Likely pathogenic rs748942718 RCV001270198
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Multiple fibroadenoma of the breast Conflicting classifications of pathogenicity rs72478580 RCV000074480
PRLR-related disorder Likely benign; Benign; Conflicting classifications of pathogenicity rs762980564, rs534398516, rs199502944, rs62355478, rs72478580 RCV003959728
RCV003939697
RCV003969284
RCV003978394
RCV003974953
Schizophrenia Uncertain significance rs2478416196, rs2478330540 RCV002463480
RCV002463542
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 28980840
Abortion Spontaneous Associate 28980840
Adenocarcinoma Associate 29949537
Arthritis Associate 27616146
Arthritis Psoriatic Associate 27616146
Arthritis Rheumatoid Associate 27616146
Autism Spectrum Disorder Associate 18207134
Breast Diseases Associate 18779591, 36445946
Breast Neoplasms Associate 11680708, 12698200, 16103113, 18053149, 18246042, 18681966, 18779591, 19036881, 19276348, 20826546, 21470416, 21726627, 22606260, 23159947, 23192981
View all (17 more)
Calcinosis Cutis Associate 21726627