TAC1

Chr 7

tachykinin precursor 1

Also known as: Hs.2563, NK2, NKNA, NPK, TAC2

NCBI Gene: 6863ENSG00000006128UniProt: P20366

This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Substance P is an antimicrobial peptide with antibacterial and antifungal properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

12
Active trials
14
Pathogenic / LP
32
ClinVar variants
63
Pubs (1 yr)
0.9
Missense Z
0.54
LOEUF
Clinical Summary— TAC1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.75) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
14 Pathogenic / Likely Pathogenic· 14 VUS of 32 total submissions
💊
Clinical Trials
12 active or recruiting trials — potential therapeutic options may be available
📖
GeneReview available — TAC1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.54LOEUF
pLI 0.746
Z-score 2.45
OE 0.11 (0.04–0.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.89Z-score
OE missense 0.69 (0.55–0.89)
46 obs / 66.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.11 (0.04–0.54)
0≤0.351.4
Missense OE0.69 (0.55–0.89)
0≤0.61.4
Synonymous OE0.99
0≤1.21.6
LoF obs/exp: 1 / 8.9Missense obs/exp: 46 / 66.4Syn Z: 0.05
DN
DN
0.80top 25%
GOF
0.4283th %ile
LOF
0.3260th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

32 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
VUS14
Likely Benign3
Benign1
14
Pathogenic
14
VUS
3
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
14
0
14
Likely Pathogenic
0
0
0
0
0
VUS
0
10
4
0
14
Likely Benign
0
0
2
1
3
Benign
0
0
0
1
1
Total01020232

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

TAC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Low Back Pain

The Prognostic Value of Biomarkers and the Effect of Tolperisone in Acute Low Back Pain and Sciatic Pain "BETA"

ACTIVE NOT RECRUITING
NCT05544656Phase PHASE3Semmelweis UniversityStarted 2019-12-13
Tolperisone HydrochloridePlacebo
Post Operative Pain, Acute

Effect of Preoperative Oral Pregabalin Versus Intraoperative Fentanyl on Postoperative Analgesia

RECRUITING
NCT05150795Phase EARLY_PHASE1Ain Shams UniversityStarted 2022-01-01
Pregabalin 150mgFentanyl 100 micrograms ampoule
Oropharyngeal Dysphagia

Oral and Swallowing Function in Older Adults

RECRUITING
NCT06368830University of Wisconsin, MadisonStarted 2024-06-03
3-ounce water swallow testKayser-Jones Brief Oral Health Status Examination (BOHSE)Tongue pressure
MeningitisDiagnosisPrognosis

Evaluation of the Levels of Calcitonin Gene-related Peptide and Substance P

RECRUITING
NCT06510751Melike CengizStarted 2024-03-01
CGRP level
Barrett EsophagusEsophageal CancerGastric Cancer

EsophaCap for the Detection of Early Esophageal Carcinoma

RECRUITING
NCT04214119Johns Hopkins UniversityStarted 2016-01-12
Non-Allergic Rhinitis With Eosinophilia Syndrome

Efficacy and Safety of Stapokibart in Non-Allergic Rhinitis With Eosinophilia Syndrome

NOT YET RECRUITING
NCT07240376Phase NAHuazhong University of Science and TechnologyStarted 2025-11-25
Stapokibart (CM310)Placebo
Post Operative Pain

Comparison Between Two Instrumentation Techniques on Postoperative Pain and Level of Neuropeptides

RECRUITING
NCT07357233Phase NAAlexandria UniversityStarted 2025-09-01
Manual-lessConventional technique
Idiopathic Rhinitis

Posterior Nasal Nerve Combined with Anterior Ethmoid Neurotomy for Idiopathic Rhinitis

RECRUITING
NCT06870292Phase NAXu YuStarted 2025-03-01
Posterior nasal nerve combined with anterior ethmoid neurotomyDrug therapy group
Sickle Cell Disease

Cannabinoids for the Reduction of Inflammation and Sickle Cell Related Pain

RECRUITING
NCT05519111Phase PHASE2Icahn School of Medicine at Mount SinaiStarted 2025-04-03
DronabinolPlacebo
MigraineTranscranial Magnetic Stimulation Repetitive

Individualized Location-based rTMS for Migraine Treatment: A Multicenter Clinical Study

NOT YET RECRUITING
NCT07086274Phase NAFirst Affiliated Hospital of Zhejiang UniversityStarted 2025-07-25
Individualized location-based Repetitive Transcranial Magnetic StimulationTraditional location-based Repetitive Transcranial Magnetic Stimulation
Systemic Lupus Erythematosus

Transcutaneous Vagus Nerve Stimulation in SLE

NOT YET RECRUITING
NCT06987565Phase PHASE2Northwell HealthStarted 2025-05-15
Active vagus nerve stimulationSham vagus nerve stimulation
ElectroacupunctureAcupunctureDiabetic Polyneuropathy

Effect of Electroacupuncture on Sensitive Symptoms of Distal Diabetic Peripheral Neuropathy

RECRUITING
NCT05521737Phase NAInstituto Mexicano del Seguro SocialStarted 2021-11-01
ElectroacupunctureSham Acupuncture
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients