TACR3 Chromosome 4
Tachykinin receptor 3
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What This Gene Does
This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Tachykinin receptors
Locus Type
gene with protein product
Location
4q24
Ensembl
ENSG00000169836
Associated Conditions (8)
Hypogonadotropic hypogonadism 11 with or without anosmia
TACR3-related disorder
Delayed puberty
Hypogonadotropic hypogonadism 7 with or without anosmia
Autism spectrum disorder
Absence of pubertal development
Hypogonadotropic hypogonadism
See cases
Key Variants
RS138661164
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia
Health Risk
RS143073792
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 11 with or without anosmia, TACR3-related disorder, Hypogonadotropic hypogonadism 11 with or without anosmia
Health Risk
RS146482011
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia
Health Risk
RS181951458
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia
Health Risk
RS201377092
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia
Health Risk
RS201828791
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia
Health Risk
RS62340657
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 11 with or without anosmia, TACR3-related disorder, Hypogonadotropic hypogonadism 11 with or without anosmia
Health Risk
RS1578272223
Likely pathogenic
Health Risk
RS199740086
Likely pathogenic
Health Risk
RS201195175
Likely pathogenic
Delayed puberty, Delayed puberty
Health Risk
RS2475987388
Likely pathogenic
TACR3-related disorder, TACR3-related disorder
Health Risk
RS727505375
Likely pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138661164 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia |
| RS143073792 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 11 with or without anosmia, TACR3-related disorder, Hypogonadotropic hypogonadism 11 with or without anosmia |
| RS146482011 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia |
| RS181951458 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia |
| RS201377092 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia |
| RS201828791 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia |
| RS62340657 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 11 with or without anosmia, TACR3-related disorder, Hypogonadotropic hypogonadism 11 with or without anosmia |
| RS1578272223 | Health Risk | Likely pathogenic | — |
| RS199740086 | Health Risk | Likely pathogenic | — |
| RS201195175 | Health Risk | Likely pathogenic | Delayed puberty, Delayed puberty |
| RS2475987388 | Health Risk | Likely pathogenic | TACR3-related disorder, TACR3-related disorder |
| RS727505375 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS760022956 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 11 with or without anosmia, TACR3-related disorder, Hypogonadotropic hypogonadism 11 with or without anosmia |
| RS764659822 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 11 with or without anosmia, Autism spectrum disorder, Hypogonadotropic hypogonadism 11 with or without anosmia |
| RS121918124 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia |
| RS121918125 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 11 with or without anosmia, Absence of pubertal development, Hypogonadotropic hypogonadism |
| RS144292455 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 11 with or without anosmia, TACR3-related disorder, Hypogonadotropic hypogonadism |
| RS397515483 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia |
| RS527698386 | Health Risk | Pathogenic | See cases, See cases |
| RS772508077 | Health Risk | Pathogenic | — |