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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Familial hyperprolactinemia Pathogenic rs376188691, rs754974807, rs398122522 RCV000735945
RCV000735946
RCV000074500
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure Likely pathogenic rs748942718 RCV001270198
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 19633648, 23362007
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 23362007
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 26176803
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 16316942, 17173897
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 27616146 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 27616146 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 27616146 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 28690611
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 18207134 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 18207134
★☆☆☆☆
Found in Text Mining only