KISS1R Chromosome 19
KISS1 receptor
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What This Gene Does
The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Peptide receptors
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000116014
Associated Conditions (10)
Central precocious puberty 1
Hypogonadotropic hypogonadism 8 with or without anosmia
Bilateral cryptorchidism
Microphallus
Inborn genetic diseases
Pituitary stalk interruption syndrome
Hypogonadotropic hypogonadism 8 without anosmia
KISS1R-related disorder
Hypogonadotropic hypogonadism
Urogenital tract malformation
Key Variants
RS121908499
Conflicting classifications of pathogenicity
Central precocious puberty 1, Hypogonadotropic hypogonadism 8 with or without anosmia, Central precocious puberty 1
Health Risk
RS144670595
Conflicting classifications of pathogenicity
Bilateral cryptorchidism, Microphallus, Hypogonadotropic hypogonadism 8 with or without anosmia
Health Risk
RS756986700
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1302076437
Likely pathogenic
Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome
Health Risk
RS2037100015
Likely pathogenic
Health Risk
RS2145316956
Likely pathogenic
Health Risk
RS2512282556
Likely pathogenic
Health Risk
RS104894701
Pathogenic
Hypogonadotropic hypogonadism 8 without anosmia, Hypogonadotropic hypogonadism 8 without anosmia
Health Risk
RS1568348369
Pathogenic
Health Risk
RS2145320709
Pathogenic
Health Risk
RS2145321015
Pathogenic
Health Risk
RS2512284473
Pathogenic
Hypogonadotropic hypogonadism 8 without anosmia, Hypogonadotropic hypogonadism 8 without anosmia
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908499 | Health Risk | Conflicting classifications of pathogenicity | Central precocious puberty 1, Hypogonadotropic hypogonadism 8 with or without anosmia, Central precocious puberty 1 |
| RS144670595 | Health Risk | Conflicting classifications of pathogenicity | Bilateral cryptorchidism, Microphallus, Hypogonadotropic hypogonadism 8 with or without anosmia |
| RS756986700 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1302076437 | Health Risk | Likely pathogenic | Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome |
| RS2037100015 | Health Risk | Likely pathogenic | — |
| RS2145316956 | Health Risk | Likely pathogenic | — |
| RS2512282556 | Health Risk | Likely pathogenic | — |
| RS104894701 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 8 without anosmia, Hypogonadotropic hypogonadism 8 without anosmia |
| RS1568348369 | Health Risk | Pathogenic | — |
| RS2145320709 | Health Risk | Pathogenic | — |
| RS2145321015 | Health Risk | Pathogenic | — |
| RS2512284473 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 8 without anosmia, Hypogonadotropic hypogonadism 8 without anosmia |
| RS28939719 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 8 without anosmia, Hypogonadotropic hypogonadism 8 without anosmia |
| RS104894702 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 8 without anosmia, KISS1R-related disorder, Hypogonadotropic hypogonadism |
| RS104894703 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 8 without anosmia, Central precocious puberty 1, Hypogonadotropic hypogonadism 8 with or without anosmia |
| RS775830195 | Health Risk | Pathogenic/Likely pathogenic | Urogenital tract malformation, Urogenital tract malformation |