Gene: TACR3

Alternate names for this Gene: HH11|NK-3R|NK3|NK3R|NKR|TAC3R|TAC3RL

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q24

Description of this Gene: tachykinin receptor 3

Type of Gene: protein-coding

rs10007754 in TACR3 gene and Age at menarche PMID 21102462 2010 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

rs1351623 in TACR3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs121918124 in TACR3 gene and HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA PMID 23643382 2013 Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

PMID 19079066 2009 TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.

PMID 25077900 2014 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

PMID 22035731 2011 The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

PMID 21300340 2011 Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

PMID 22031817 2011 Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.

PMID 20332248 2010 TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.