PROKR2 Chromosome 20
Prokineticin receptor 2
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What This Gene Does
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 protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Prokineticin receptors
Locus Type
gene with protein product
Location
20p12.3
Ensembl
ENSG00000101292
Associated Conditions (12)
Hypogonadotropic hypogonadism 3 with or without anosmia
HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA
Male infertility with azoospermia or oligozoospermia due to single gene mutation
PROKR2-related disorder
Inborn genetic diseases
Male infertility with spermatogenesis disorder
Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 7 with or without anosmia
Infertility disorder
Amenorrhea
Hypogonadism with anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Key Variants
RS139399061
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
Health Risk
RS141090506
Conflicting classifications of pathogenicity
HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA, Hypogonadotropic hypogonadism 3 with or without anosmia, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS142008002
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
Health Risk
RS144994507
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 3 with or without anosmia, Inborn genetic diseases, Hypogonadotropic hypogonadism 3 with or without anosmia
Health Risk
RS146544539
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 3 with or without anosmia, PROKR2-related disorder, Hypogonadotropic hypogonadism 3 with or without anosmia
Health Risk
RS149992595
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 3 with or without anosmia, Male infertility with spermatogenesis disorder, Hypogonadotropic hypogonadism
Health Risk
RS1600577387
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
Health Risk
RS200755554
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
Health Risk
RS201023639
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
Health Risk
RS201283126
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
Health Risk
RS201835496
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
Health Risk
RS202203360
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139399061 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS141090506 | Health Risk | Conflicting classifications of pathogenicity | HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA, Hypogonadotropic hypogonadism 3 with or without anosmia, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS142008002 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS144994507 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Inborn genetic diseases, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS146544539 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, PROKR2-related disorder, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS149992595 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Male infertility with spermatogenesis disorder, Hypogonadotropic hypogonadism |
| RS1600577387 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS200755554 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS201023639 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS201283126 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS201835496 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS202203360 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS368732206 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS370738961 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS376142095 | Health Risk | Conflicting classifications of pathogenicity | HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA, Hypogonadotropic hypogonadism 3 with or without anosmia, HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA |
| RS376239580 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS543677594 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS576243101 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS74315416 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Infertility disorder, Hypogonadotropic hypogonadism |
| RS74315417 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS74315418 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Amenorrhea, Hypogonadism with anosmia |
| RS914930539 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 3 with or without anosmia, Amenorrhea, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS1979019949 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS201898089 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS538606142 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS751875578 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS886037916 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS1373662309 | Health Risk | Pathogenic | — |
| RS2515240742 | Health Risk | Pathogenic | — |
| RS74315419 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS886041307 | Health Risk | Pathogenic | — |
| RS587777834 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 3 with or without anosmia, Inborn genetic diseases, Hypogonadotropic hypogonadism 2 with or without anosmia |