TAC3 Chromosome 12
Tachykinin precursor 3
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What This Gene Does
This gene encodes a member of the tachykinin family of secreted neuropeptides. The encoded preproprotein is proteolytically processed to generate the mature peptide, which is primarily expressed in the central and peripheral nervous systems and functions as a neurotransmitter. This peptide is the ligand for the neurokinin-3 receptor. This protein is also expressed in the outer syncytiotrophoblast of the placenta and may be associated with pregnancy-induced hypertension and pre-eclampsia. Mutations in this gene are associated with normosmic hypogonadotropic hypogonadism. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Tachykinin precursors
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000166863
Associated Conditions (6)
Delayed puberty
Infertility disorder
Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 7 with or without anosmia
HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
Hypogonadotropic hypogonadism 10 with or without anosmia
Key Variants
RS143862988
Conflicting classifications of pathogenicity
Delayed puberty, Infertility disorder, Delayed puberty
Health Risk
RS146391497
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
Health Risk
RS2547948030
Likely pathogenic
Health Risk
RS727505372
Likely pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia, Delayed puberty, Hypogonadotropic hypogonadism 7 with or without anosmia
Health Risk
RS121918123
Pathogenic
HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
Health Risk
RS398122393
Pathogenic
Hypogonadotropic hypogonadism 10 with or without anosmia, Hypogonadotropic hypogonadism 10 with or without anosmia
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143862988 | Health Risk | Conflicting classifications of pathogenicity | Delayed puberty, Infertility disorder, Delayed puberty |
| RS146391497 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism |
| RS2547948030 | Health Risk | Likely pathogenic | — |
| RS727505372 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia, Delayed puberty, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS121918123 | Health Risk | Pathogenic | HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA |
| RS398122393 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 10 with or without anosmia, Hypogonadotropic hypogonadism 10 with or without anosmia |