HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TAC3
tachykinin precursor 3
Chromosome 12 Β· 12q13.3
NCBI Gene: 6866Ensembl: ENSG00000166863.14HGNC: HGNC:11521UniProt: Q9UHF0
77PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
receptor ligand activityGO:0005615phospholipase C-activating tachykinin receptor signaling pathwayprotein bindinghypogonadotropic hypogonadism 10 with or without anosmiaisolated congenital hypogonadotropic hypogonadismhypogonadotropic hypogonadismKallmann syndrome
✦AI Summary

TAC3 encodes tachykinin 3 (neurokinin B), a neuropeptide ligand for the G protein-coupled receptor TACR3 that mediates reproductive and neural functions. TAC3 activates TACR3 through two primary signaling pathways: phospholipase C-dependent hydrolysis of phosphatidylinositol 1 and adenylate cyclase activation leading to increased intracellular cAMP 2. As a critical central regulator of gonadal function, TAC3/TACR3 signaling is essential for controlling pulsatile gonadotropin-releasing hormone release and puberty onset 3. TAC3 expression is developmentally regulated by the NRSF transcription factor family, with implications for both normal neural development and epilepsy pathogenesis 4. In the human nervous system, TAC3 marks a distinct striatal interneuron population in the dorsal striatum 56. Clinically, mutations in TAC3 and TACR3 cause hypogonadotropic hypogonadism with or without anosmia, representing major genetic contributors alongside GNRHR mutations 7. Genetic variants in TAC3, particularly the A63P polymorphism, are associated with altered puberty timing in populations 8. These findings establish TAC3 as a fundamental regulator of the hypothalamic-pituitary-gonadal axis with emerging roles in neural circuit development.

Sources cited
1
TAC3 acts as a ligand for TACR3, triggering G protein-coupled receptor signaling via G(q) and phospholipase C activation
PMID: 37391393
2
TAC3 signaling activates adenylate cyclase, increasing intracellular cAMP levels
PMID: 31412674
3
TAC3-encoded neurokinin B is an important accelerator of pulsatile gonadotropin-releasing hormone release
PMID: 23812498
4
TAC3 gene and its promoter are regulated by NRSF transcription factors, with increased expression during seizure activity
PMID: 19539370
5
TAC3 marks a distinct interneuron population in the human dorsal striatum
PMID: 39039043
6
TAC3-expressing interneurons are among the most abundant populations in human dorsal striatum with conserved features across species
PMID: 37292997
7
Mutations in TAC3 and TACR3 cause hypogonadotropic hypogonadism and are important genes for screening in clinical practice
PMID: 26680571
8
The A63P polymorphism in TAC3 is associated with puberty onset timing in Chinese girls
PMID: 25153567
Disease Associationsβ“˜21
hypogonadotropic hypogonadism 10 with or without anosmiaOpen Targets
0.60Moderate
isolated congenital hypogonadotropic hypogonadismOpen Targets
0.55Moderate
hypogonadotropic hypogonadismOpen Targets
0.52Moderate
Kallmann syndromeOpen Targets
0.46Moderate
infertilityOpen Targets
0.34Weak
Delayed pubertyOpen Targets
0.33Weak
transient ischemic attackOpen Targets
0.23Weak
polycystic ovary syndromeOpen Targets
0.08Suggestive
primary ovarian insufficiencyOpen Targets
0.07Suggestive
46,XX gonadal dysgenesisOpen Targets
0.07Suggestive
dermatitis herpetiformis, familialOpen Targets
0.07Suggestive
pruritus, hereditary localizedOpen Targets
0.07Suggestive
Testicular regression syndromeOpen Targets
0.06Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.06Suggestive
Familial hyperprolactinemiaOpen Targets
0.05Suggestive
familial hyperprolactinemiaOpen Targets
0.05Suggestive
46,XY gonadal dysgenesis - motor and sensory neuropathyOpen Targets
0.05Suggestive
46,XY gonadal dysgenesis-motor and sensory neuropathy syndromeOpen Targets
0.05Suggestive
obesity due to congenital leptin deficiencyOpen Targets
0.05Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.05Suggestive
Hypogonadotropic hypogonadism 10 with or without anosmiaUniProt
Pathogenic Variants4
NM_013251.4(TAC3):c.238+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_013251.4(TAC3):c.238C>A (p.Arg80Ser)Likely pathogenic
Hypogonadotropic hypogonadism 7 with or without anosmia|Delayed puberty
β˜…β˜†β˜†β˜†2014β†’ Residue 80
NM_013251.4(TAC3):c.61del (p.Ala21fs)Pathogenic
Hypogonadotropic hypogonadism 10 with or without anosmia
β˜†β˜†β˜†β˜†2010β†’ Residue 21
NM_013251.4(TAC3):c.269T>C (p.Met90Thr)Pathogenic
not provided|HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
β˜†β˜†β˜†β˜†2009β†’ Residue 90
View on ClinVar β†—
Related Genes
CHKBProtein interaction100%PROK2Protein interaction100%PDYNProtein interaction97%TAC4Protein interaction90%GNRHRProtein interaction89%KISS1RProtein interaction86%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
56%
Ovary
3%
Liver
2%
Lung
1%
Heart
0%
Gene Interaction Network
Click a node to explore
TAC3CHKBPROK2PDYNTAC4GNRHRKISS1R
PROTEIN STRUCTURE
Preparing viewer…
PDB8JBG Β· 2.80 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.93LoF Tolerant
pLIβ“˜
0.04Tolerant
Observed/Expected LoF0.53 [0.32–0.93]
RankingsWhere TAC3 stands among ~20K protein-coding genes
  • #6,214of 20,598
    Most Researched77
  • #3,770of 5,498
    Most Pathogenic Variants4
  • #8,546of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedTAC3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Generating human neural diversity with a multiplexed morphogen screen in organoids.
PMID: 39642864
Cell Stem Cell Β· 2024
1.00
2
Association study of TAC3 and TACR3 gene polymorphisms with idiopathic precocious puberty in Chinese girls.
PMID: 25153567
J Pediatr Endocrinol Metab Β· 2015
0.90
3
The human neurokinin B gene, TAC3, and its promoter are regulated by Neuron Restrictive Silencing Factor (NRSF) transcription factor family.
PMID: 19539370
Neuropeptides Β· 2009
0.80
4
PMID: 20301509
0.70
5
Genetics of Hypogonadotropic Hypogonadism.
PMID: 26680571
Endocr Dev Β· 2016
0.60