Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

TAC3

Aliases

HH10, LncZBTB39, NK3, NKB, NKNB, PRO1155, ZNEUROK1

Entrez Gene ID

6866

Gene Name

Tachykinin precursor 3

Chromosomal Location

12q13.3

HGNC ID

11521

Summary

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]

RefSeq DNA

NG_021398.1

RefSeq mRNA

NM_013251.4, NR_033654.2, NR_135164.2, NR_135165.2, NR_135166.2, NM_001178054.2

e!Ensembl

Gene	ENSG00000166863
Transcript	ENST00000357616, ENST00000458521, ENST00000438756, ENST00000393867, ENST00000379411, ENST00000441881, ENST00000423597, ENST00000300108, ENST00000415231, ENST00000496757, ENST00000615887
Protein	ENSP00000350236, ENSP00000404056, ENSP00000408131, ENSP00000377445, ENSP00000368721, ENSP00000408208, ENSP00000416292, ENSP00000300108, ENSP00000402995, , ENSP00000483110

SNPs

SNP	SNP ID	Associated disease	References
A63P		Idiopathic central precocious puberty (iCPP)	23329188, 25153567
rs73334764	rs73334764	Idiopathic precocious puberty	25153567
rs139436053	rs139436053	Idiopathic precocious puberty	25153567
rs149661186	rs149661186	Idiopathic precocious puberty	25153567
rs11614223	rs11614223	Idiopathic precocious puberty	25153567

Gene Ontology (GO)

Show/Hide all(5 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007565	Biological process	Female pregnancy	TAS	10866201
GO:0045777	Biological process	Positive regulation of blood pressure	IBA	21873635
GO:0005615	Cellular component	Extracellular space	TAS	10866201
GO:0005102	Molecular function	Signaling receptor binding	TAS	10866201
GO:0005515	Molecular function	Protein binding	IPI	32296183

Protein Information

Protein Name

Tachykinin-3, LncZBTB39-1:2, gamma tachykinin 3, neurokinin b, neuromedin K, preprotachykinin B, tachykinin 3

Function

Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles (By similarity). Is a critical central regulator of gonadal function.

Refseq Proteins

NP_037383.1, , NP_001171525.1

UniProt

Q9UHF0

PDB

1P9F