ADCYAP1

Chr 18

adenylate cyclase activating polypeptide 1

Also known as: PACAP

NCBI Gene: 116ENSG00000141433UniProt: P18509

This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target genes. The products of this gene are key mediators of neuroendocrine stress responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
7
Active trials
27
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.75
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.75LOEUF
pLI 0.524
Z-score 1.96
OE 0.16 (0.06–0.75)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
-0.43Z-score
OE missense 1.12 (0.96–1.31)
112 obs / 99.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.16 (0.06–0.75)
0≤0.351.4
Missense OE?1.12 (0.96–1.31)
0≤0.61.4
Synonymous OE?1.52
0≤1.21.6
LoF obs/exp: 1 / 6.3Missense obs/exp: 112 / 99.8Syn Z: -2.77

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ADCYAP1 · 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
Post-Traumatic HeadacheConcussion, MildMTBI - Mild Traumatic Brain Injury

GAIN Symptoms: Post-traumatic Headache

ACTIVE NOT RECRUITING
NCT05857761Phase NAUniversity of AarhusStarted 2023-08-28
Active repetitive transcranial magnetic stimulation (rTMS)Sham repetitive transcranial magnetic stimulation (rTMS)
Migraine

Tear Biomarkers for Migraine

NOT YET RECRUITING
NCT07690696Fondazione Policlinico Universitario Agostino Gemelli IRCCSStarted 2026-09-30
Patients with migraine
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
MigraineCluster HeadacheTrigeminal Autonomic Cephalgia

Pain Biomarker Study

ENROLLING BY INVITATION
NCT03511846Phase PHASE1The University of Texas Health Science Center, HoustonStarted 2018-03-21
Oral capsaicinTopical capsaicinIntranasal capsaicin
Migraine DisordersPainAutoimmune Diseases

The Role of Cytokines and Regulatory T Lymphocytes in Migraine Pathophysiology.

RECRUITING
NCT06426316Phase NAUniversity Hospital, Clermont-FerrandStarted 2025-06-02
Blood test
Chronic Migraine HeadacheRadiofrequency AblationGreater Occipital Nerve Block

The Effect of Interventional Procedures on Serum CGRP and PACAP-38 Levels in Chronic Migraine

ACTIVE NOT RECRUITING
NCT07395908Phase NAAydin Adnan Menderes UniversityStarted 2025-05-29
Greater occipital nerve Pulse radiofrequencyGreater occipital nerve block
Migraine

Mechanistic Studies of Psilocybin in Headache Disorders

RECRUITING
NCT06464367Phase EARLY_PHASE1Yale UniversityStarted 2025-05-19
PsilocybinPlacebo

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