Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5618 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Prolactin receptor |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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PRLR |
SynonymsGene synonyms aliases
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HPRL, MFAB, RI-PRLR, hPRLrI |
ChromosomeChromosome number
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5 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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5p13.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
|
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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
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 |
|
Sequence |
MKENVASATVFTLLLFLNTCLLNGQLPPGKPEIFKCRSPNKETFTCWWRPGTDGGLPTNY SLTYHREGETLMHECPDYITGGPNSCHFGKQYTSMWRTYIMMVNATNQMGSSFSDELYVD VTYIVQPDPPLELAVEVKQPEDRKPYLWIKWSPPTLIDLKTGWFTLLYEIRLKPEKAAEW EIHFAGQQTEFKILSLHPGQKYLVQVRCKPDHGYWSAWSPATFIQIPSDFTMNDTTVWIS VAVLSAVICLIIVWAVALKGYSMVTCIFPPVPGPKIKGFDAHLLEKGKSEELLSALGCQD FPPTSDYEDLLVEYLEVDDSEDQHLMSVHSKEHPSQGMKPTYLDPDTDSGRGSCDSPSLL SEKCEEPQANPSTFYDPEVIEKPENPETTHTWDPQCISMEGKIPYFHAGGSKCSTWPLPQ PSQHNPRSSYHNITDVCELAVGPAGAPATLLNEAGKDALKSSQTIKSREEGKATQQREVE SFHSETDQDTPWLLPQEKTPFGSAKPLDYVEIHKVNKDGALSLLPKQRENSGKPKKPGTP ENNKEYAKVSGVMDNNILVLVPDPHAKNVACFEESAKEAPPSLEQNQAEKALANFTATSS KCRLQLGGLDYLDPACFTHSFH
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Sequence length |
622 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Autism |
Autistic Disorder |
rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 |
18207134 |
Carcinoma |
Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma |
rs121912654, rs555607708, rs786202962, rs1564055259 |
17173897, 16316942, 16316942, 17173897 |
Hyperprolactinemia |
Hyperprolactinemia, Familial hyperprolactinemia |
rs398122522, rs376188691, rs754974807 |
24195502 |
Osteoporosis |
Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Anaplastic carcinoma |
Anaplastic carcinoma |
|
17173897, 16316942 |
Endometrioma |
Endometrioma |
|
20864642 |
Endometriosis |
Endometriosis |
rs1800629, rs1143634 |
20864642 |
Female hypogonadism syndrome |
Female hypogonadism syndrome |
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Fibroadenoma of breast |
Fibroadenoma of breast |
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Miscarriage |
Miscarriage |
|
18539642 |
Multiple fibroadenomas of the breast |
MULTIPLE FIBROADENOMAS OF THE BREAST |
|
18779591 |
Osteopenia |
Osteopenia |
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