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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PROKR2
prokineticin receptor 2
Chromosome 20 Β· 20p12.3
NCBI Gene: 128674Ensembl: ENSG00000101292.8HGNC: HGNC:15836UniProt: A8K1T0
71PubMed Papers
21Diseases
0Drugs
13Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingplasma membraneG protein-coupled receptor activityG protein-coupled receptor signaling pathwayhypogonadotropic hypogonadism 3 with or without anosmiaKallmann syndromehypogonadotropic hypogonadismmale infertility with azoospermia or oligozoospermia due to single gene mutation
✦AI Summary

PROKR2 (prokineticin receptor 2) is a G-protein coupled receptor exclusively coupled to the Gq subclass, mediating calcium mobilization, phosphoinositide turnover, and MAPK activation upon ligand binding 1. Beyond its classical endocrine functions, PROKR2 plays critical roles in sensory processing and neuro-immune regulation. PROKR2-expressing spinal interneurons are essential for pleasant touch sensation and reward encoding, with ablation impairing stress responses and prosocial behaviors 2. ProkR2-bearing sensory neurons regulate anti-tumor immunity via dopamine signaling, enhancing NK cell cytotoxicity in triple-negative breast cancer when stimulated 3. PROKR2 is primarily recognized for its role in reproductive biology. PROKR2 mutations account for autosomal forms of Kallmann syndrome (hypogonadotropic hypogonadism with anosmia) through impaired GnRH neuron migration during development 45. However, PROKR2 mutations also cause normosmic congenital hypogonadotropic hypogonadism, suggesting post-migratory effects on GnRH function 67. Biallelic mutations typically produce complete disease manifestation, while monoallelic mutations show incomplete penetrance and variable expressivity, often with oligogenic inheritance 5. Additionally, PROKR2 dysfunction associates with metabolic and circadian rhythm disturbances 58. The PROK2-PROKR2 pathway thus represents a pleiotropic system with broad implications for reproduction, sensory integration, and immune regulation.

Sources cited
1
PROKR2 in spinal excitatory interneurons is essential for pleasant touch sensation, reward encoding, and normal stress/prosocial behaviors
PMID: 35482870
2
ProkR2-bearing sensory neurons regulate anti-tumor immune responses through dopamine signaling and enhance NK cell cytotoxicity
PMID: 39951881
3
PROKR2 is a G-protein coupled receptor mediating calcium mobilization and phosphoinositide turnover; expressed in placenta with roles in angiogenesis and trophoblast regulation
PMID: 27172869
4
PROKR2 and PROK2 mutations cause autosomal forms of Kallmann syndrome combining hypogonadotropic hypogonadism with anosmia
PMID: 18985070
5
PROKR2 mutations cause GnRH neuron migration defects in mice; biallelic mutations in humans produce complete KS phenotype while monoallelic mutations show incomplete penetrance and variable expressivity
PMID: 20389090
6
Biallelic PROKR2 variants cause normosmic congenital hypogonadotropic hypogonadism, indicating post-migratory GnRH function roles beyond neuronal migration
PMID: 35236788
7
PROK2/PROKR2 pathway has pleiotropic roles in GnRH biology, pain perception, circadian rhythms, hematopoiesis, and immune response with predominantly heterozygous mutations showing incomplete penetrance
PMID: 21037178
8
PROKR2 regulates male reproductive development and testicular pathophysiology through the prokineticin system
PMID: 36289651
Disease Associationsβ“˜21
hypogonadotropic hypogonadism 3 with or without anosmiaOpen Targets
0.82Strong
Kallmann syndromeOpen Targets
0.71Strong
hypogonadotropic hypogonadismOpen Targets
0.46Moderate
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.43Moderate
Abnormality of the skeletal systemOpen Targets
0.39Weak
Hirschsprung diseaseOpen Targets
0.37Weak
Septo-optic dysplasiaOpen Targets
0.37Weak
hypogonadotropic hypogonadism 2 with or without anosmiaOpen Targets
0.34Weak
genetic disorderOpen Targets
0.34Weak
obesityOpen Targets
0.27Weak
Male infertility with spermatogenesis disorderOpen Targets
0.27Weak
neuroendocrine neoplasmOpen Targets
0.24Weak
injuryOpen Targets
0.19Weak
Genu valgumOpen Targets
0.18Weak
Genu varumOpen Targets
0.18Weak
amenorrheaOpen Targets
0.15Weak
infertilityOpen Targets
0.11Weak
diabetes mellitusOpen Targets
0.10Suggestive
colorectal cancerOpen Targets
0.08Suggestive
supraventricular ectopyOpen Targets
0.07Suggestive
Hypogonadotropic hypogonadism 3 with or without anosmiaUniProt
Pathogenic Variants13
NM_144773.4(PROKR2):c.58del (p.His20fs)Pathogenic
Hypogonadotropic hypogonadism 3 with or without anosmia|not provided|Inborn genetic diseases|not specified|Hypogonadotropic hypogonadism 2 with or without anosmia|PROKR2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 20
NM_144773.4(PROKR2):c.491G>A (p.Arg164Gln)Likely pathogenic
Hypogonadotropic hypogonadism 3 with or without anosmia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 164
NM_144773.4(PROKR2):c.691G>A (p.Glu231Lys)Likely pathogenic
Hypogonadotropic hypogonadism 3 with or without anosmia|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 231
NM_144773.4(PROKR2):c.948C>G (p.Tyr316Ter)Likely pathogenic
Hypogonadotropic hypogonadism 3 with or without anosmia
β˜…β˜…β˜†β˜†2024β†’ Residue 316
NM_144773.4(PROKR2):c.100_104del (p.Asp34fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 34
NM_144773.4(PROKR2):c.896A>T (p.Asp299Val)Likely pathogenic
Hypogonadotropic hypogonadism 3 with or without anosmia
β˜…β˜†β˜†β˜†2024β†’ Residue 299
NM_144773.4(PROKR2):c.324del (p.Phe109fs)Likely pathogenic
Hypogonadotropic hypogonadism 3 with or without anosmia
β˜…β˜†β˜†β˜†2024β†’ Residue 109
NM_144773.4(PROKR2):c.1010dup (p.Asn338fs)Likely pathogenic
Hypogonadotropic hypogonadism 3 with or without anosmia
β˜…β˜†β˜†β˜†2024β†’ Residue 338
NM_144773.4(PROKR2):c.390del (p.Val131fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 131
NM_144773.4(PROKR2):c.201C>A (p.Cys67Ter)Likely pathogenic
Hypogonadotropic hypogonadism 3 with or without anosmia
β˜…β˜†β˜†β˜†2022β†’ Residue 67
NM_144773.4(PROKR2):c.458+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2015
NM_144773.4(PROKR2):c.97T>C (p.Tyr33His)Likely pathogenic
Hypogonadotropic hypogonadism 3 with or without anosmia
β˜…β˜†β˜†β˜†2015β†’ Residue 33
NM_144773.4(PROKR2):c.969G>A (p.Met323Ile)Pathogenic
Hypogonadotropic hypogonadism 3 with or without anosmia
β˜†β˜†β˜†β˜†2006β†’ Residue 323
View on ClinVar β†—
Related Genes
GNRH1Protein interaction88%PROK2Protein interaction86%CHD7Protein interaction86%FGFR1Protein interaction82%KISS1Protein interaction81%PROK1Protein interaction80%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
5%
Lung
0%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
PROKR2GNRH1PROK2CHD7FGFR1KISS1PROK1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8NFJ6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.49LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.08 [0.79–1.49]
RankingsWhere PROKR2 stands among ~20K protein-coding genes
  • #6,665of 20,598
    Most Researched71
  • #2,599of 5,498
    Most Pathogenic Variants13
  • #15,131of 17,882
    Most Constrained (LOEUF)1.49
Genes detectedPROKR2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Molecular and neural basis of pleasant touch sensation.
PMID: 35482870
Science Β· 2022
1.00
2
Sciatic nerve stimulation enhances NK cell cytotoxicity through dopamine signaling and synergizes immunotherapy in triple-negative breast cancer.
PMID: 39951881
Drug Resist Updat Β· 2025
0.90
3
Prokineticin1 and pregnancy.
PMID: 27172869
Ann Endocrinol (Paris) Β· 2016
0.80
4
Kallmann syndrome.
PMID: 18985070
Eur J Hum Genet Β· 2009
0.70
5
PMID: 20301509
0.60