PROKR2 (prokineticin receptor 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 128674
Gene name Prokineticin receptor 2
Gene symbol PROKR2
Synonyms (NCBI Gene)
GPR73L1GPR73bGPRg2HH3KAL3PKR2dJ680N4.3
Chromosome 20
Chromosome location 20p12.3
Summary Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. The encoded
SNPs SNP information provided by dbSNP.
13
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
SNP ID Visualize variation Clinical significance Consequence
rs74315416 A>C Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Coding sequence variant, missense variant
rs74315417 T>C,G Pathogenic Coding sequence variant, missense variant
rs74315418 C>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Coding sequence variant, missense variant
rs74315419 C>T Pathogenic Coding sequence variant, missense variant
rs138672528 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT019359 hsa-miR-148b-3p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0004930 Function G protein-coupled receptor activity IBA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004983 Function Neuropeptide Y receptor activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607123 15836 ENSG00000101292
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NFJ6
Protein name Prokineticin receptor 2 (PK-R2) (G-protein coupled receptor 73-like 1) (G-protein coupled receptor I5E) (GPR73b) (GPRg2)
Protein function Receptor for prokineticin 2. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 70 → 333 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the ileocecum, thyroid gland, pituitary gland, salivary gland, adrenal gland, testis, ovary and brain.
Sequence
Sequence length 384
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Peptide ligand-binding receptors
G alpha (q) signalling events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
111
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypogonadotropic hypogonadism 2 with or without anosmia Likely pathogenic; Pathogenic rs587777834 RCV002288460
Hypogonadotropic hypogonadism 3 with or without anosmia Likely pathogenic; Pathogenic rs751875578, rs538606142, rs587777834, rs74315419, rs201898089, rs886037916, rs1979019949 RCV001542622
RCV001782683
RCV000022409
RCV000022410
RCV003133703
RCV000256868
RCV003328074
PROKR2-related disorder Likely pathogenic; Pathogenic rs587777834 RCV004752681
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amenorrhea Conflicting classifications of pathogenicity rs2122203627, rs74315418, rs914930539 RCV001849520
RCV001849252
RCV001849439
Hypogonadism with anosmia Conflicting classifications of pathogenicity rs74315418 RCV002254257
Hypogonadotropic hypogonadism Conflicting classifications of pathogenicity rs74315416, rs149992595 RCV004782004
RCV005253725
HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA Conflicting classifications of pathogenicity rs141090506, rs376142095 RCV000144712
RCV000144715
Show/Hide Text Mining Associations (49)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 25064403
Abortion Spontaneous Associate 25064403
Adrenal Gland Diseases Associate 26475302
Adrenocortical Adenoma Associate 26475302
Amenorrhea Associate 21247312
Cerebellar Ataxia and Hypogonadotropic Hypogonadism Associate 26207952, 37605180
CHARGE Syndrome Associate 24204987
Chlamydia Infections Associate 21224062
Colorectal Neoplasms Associate 26372733, 29226856
Combined Pituitary Hormone Deficiency Associate 37338295