TAC3: Tachykinin Precursor 3
Key regulator of reproductive function and neuroendocrine signaling
Gene Information Card
| Symbol | TAC3 |
|---|---|
| Full Name | Tachykinin Precursor 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 6866 ncbi.nlm.nih.gov/gene/6866 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q9UHF0 |
| OMIM ID | 162330 |
| HGNC ID | 11521 |
| Aliases | NKB, TAC3L, HH10 |
Description
TAC3 encodes preprotachykinin-3, which is cleaved to produce neurokinin B (NKB), a member of the tachykinin peptide family. NKB acts primarily through the neurokinin-3 receptor (NK3R) and is essential for normal gonadotropin-releasing hormone (GnRH) secretion and reproductive function. Mutations in TAC3 cause autosomal recessive normosmic congenital hypogonadotropic hypogonadism (nCHH).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypogonadotropic hypogonadism 10 with or without anosmia | Loss-of-function mutations in TAC3 impair NKB signaling, disrupting GnRH release | OMIM #614838; ClinVar; PMID 19234473 |
| Normosmic congenital hypogonadotropic hypogonadism | Deficient NKB leads to inadequate LH/FSH secretion and delayed puberty | OMIM; PMID 19234473 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.8 | Low |
| Hypothalamus | 1.2 | Low |
| Testis | 0.3 | Not detected |
| Ovary | 0.2 | Not detected |
| Placenta | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 0.5 | Neuroblastoma cell line |
| HEK293 | 0.1 | Low expression |
| HepG2 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.209_210delCT | Frameshift | Rare | Loss of function; truncated protein |
| c.236A>G (p.Tyr79Cys) | Missense | Rare | Impaired NKB processing |
| c.308C>T (p.Pro103Leu) | Missense | Rare | Reduced receptor activation |
Mutation functional classification
Loss of Function (LOF)
Most TAC3 mutations are loss-of-function, leading to reduced or absent NKB signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for TAC3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neuroactive ligand-receptor interaction (KEGG hsa04080)
• Tachykinin signaling (Reactome R-HSA-375276)
Protein Summary
Neurokinin B (NKB) is a 10-amino acid peptide derived from the TAC3 precursor. It belongs to the tachykinin family and binds preferentially to the NK3 receptor. NKB is critical for pulsatile GnRH secretion and reproductive maturation. The protein is expressed primarily in the hypothalamus and placenta.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAC3 Knockout HEK293 Cell Line | EDJ-KQ5876 | Human | 6866 | Details Get a Quote |
| TAC3 Knockout HeLa Cell Line | EDJ-KQ54606 | Human | 6866 | Details Get a Quote |
| TAC3 Knockout A-549 Cell Line | EDJ-KQ63086 | Human | 6866 | Details Get a Quote |
| TAC3 Knockout HCT 116 Cell Line | EDJ-KQ71559 | Human | 6866 | Details Get a Quote |
