AEBP1

Chr 7AR

AE binding protein 1

Also known as: ACLP

NCBI Gene: 165ENSG00000106624UniProt: Q8IUX7

This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]

Primary Disease Associations & Inheritance

Ehlers-Danlos syndrome, classic-like, 2MIM #618000
AR
494
ClinVar variants
53
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— AEBP1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
53 Pathogenic / Likely Pathogenic· 187 VUS of 494 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.64LOEUF
pLI 0.000
Z-score 3.79
OE 0.46 (0.34–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.00Z-score
OE missense 0.90 (0.84–0.96)
654 obs / 730.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.46 (0.34–0.64)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.90 (0.84–0.96)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.91
0≤1.21.6
LoF obs/exp: 27 / 58.2Missense obs/exp: 654 / 730.1Syn Z: 1.23

ClinVar Variant Classifications

494 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic39
Likely Pathogenic14
VUS187
Likely Benign218
Benign28
Conflicting8
39
Pathogenic
14
Likely Pathogenic
187
VUS
218
Likely Benign
28
Benign
8
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
15
0
24
0
39
Likely Pathogenic
8
1
5
0
14
VUS
1
163
22
1
187
Likely Benign
1
10
78
129
218
Benign
0
3
21
4
28
Conflicting
—8
Total25177150134494

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

View in ClinVar →

Protein Context — Lollipop Plot

AEBP1 · protein map & ClinVar variants

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

Gene2Phenotype Curations

AEBP1-related Ehlers-Danlos syndrome, classic-like

moderate
ARUndeterminedAbsent Gene Product
Skin
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Ehlers-Danlos syndrome, classic-like, 2

MIM #618000

Molecular basis of disorder known

Autosomal recessive
📖
GeneReview available — AEBP1
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
AEBP1 as a promising therapeutic target for skeletal muscle insulin resistance in type 2 diabetes mellitus: Convergent evidence from Mendelian randomization and functional validation.
Guo C et al.·Metabolism
2025Functional
Single-nuclear transcriptome profiling identifies persistent fibroblast activation in hypertrophic and failing human hearts of patients with longstanding disease.
Kattih B et al.·Cardiovasc Res
2023Cohort
Single-cell profiling uncovers synovial fibroblast subpopulations associated with chondrocyte injury in osteoarthritis.
Liu Z et al.·Front Endocrinol (Lausanne)
2024
AEBP1, a prognostic indicator, promotes colon adenocarcinoma cell growth and metastasis through the NF-κB pathway.
Xing Y et al.·Mol Carcinog
2019
Clinical significance and potential mechanism of AEBP1 in glioblastoma.
Wang C et al.·J Neuropathol Exp Neurol
2024Functional
AEBP1 promotes papillary thyroid cancer progression by activating BMP4 signaling.
Ju G et al.·Neoplasia
2024
Integrated Analysis to Reveal Heterogeneity of Tumor-Associated Neutrophils in Glioma.
Wang W et al.·Cancer Med
2025
Aebp1 loss in osteoprogenitors leads to skeletal defects resembling Ehlers-Danlos Syndrome by diminishing Wnt/β-catenin signaling.
Feng S et al.·JCI Insight
2025
To construct and validate a risk score model of angiogenesis-related genes to predict the prognosis of hepatocellular carcinoma.
Gao D et al.·Sci Rep
2025Functional
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.
Syx D et al.·Hum Mol Genet
2019Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools