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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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APCDD1
APC down-regulated 1
Chromosome 18 · 18p11.22
NCBI Gene: 147495Ensembl: ENSG00000154856.13HGNC: HGNC:15718UniProt: Q8J025
22PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingWnt-protein bindingidentical protein bindinghair follicle developmenthypotrichosis 1hypotrichosis simplexandrogenetic alopecianeurodegenerative disease
✦AI Summary

APCDD1 is a transmembrane protein that functions as a negative regulator of the Wnt signaling pathway, operating upstream of β-catenin 1. Structurally, APCDD1 contains two β-barrel domains, with the second domain harboring a hydrophobic pocket that binds lipids and WNT ligands, enabling it to function as a negative feedback regulator by titrating WNT ligands at the cell surface 2. Beyond Wnt inhibition, APCDD1 is a dual BMP/Wnt inhibitor in developing nervous system and skin tissues, coordinating outputs of these critical developmental pathways 3. APCDD1 is a direct target of the β-catenin/TCF4 transcription complex; elevated expression contributes to colorectal tumorigenesis, with increased APCDD1 levels observed in primary colon cancers 1. Disease relevance extends beyond cancer: APCDD1 variants cosegregate with left ventricular noncompaction in cardiac disease families 4, while ectopic upregulation via altered 3D chr18 topology causes central iris hypoplasia 5. APCDD1+ cell populations serve as key mediators in inflammatory contexts—cancer-associated fibroblasts expressing APCDD1 promote prostate cancer castration resistance through lactate secretion 6, and dermal APCDD1+ fibroblasts amplify stress-induced skin inflammation via prolactin-NR4A1-midkine signaling 7. APCDD1 downregulation in humans contributes to neuronal maturation and cognitive development 8.

Sources cited
1
APCDD1 is a direct target of β-catenin/TCF4 complex, elevated in colorectal cancers, and promotes colon cancer cell growth
PMID: 12384519
2
APCDD1 structure reveals two β-barrel domains with lipid-binding pocket; functions as WNT ligand titrator via lipid binding
PMID: 37155902
3
APCDD1 is a dual inhibitor of BMP and Wnt signaling pathways in developing nervous system and skin
PMID: 32320685
4
APCDD1 variants cosegregate with left ventricular noncompaction in cardiac disease families
PMID: 36325906
5
Ectopic APCDD1 upregulation via altered chromatin topology causes central iris hypoplasia
PMID: 38871723
6
APCDD1+ cancer-associated fibroblasts secrete lactate promoting prostate cancer castration resistance
PMID: 41544173
7
APCDD1+ dermal fibroblasts mediate stress-induced skin inflammation via prolactin-NR4A1-midkine axis
PMID: 41194398
8
APCDD1 downregulation in humans contributes to neuronal maturation and cognitive ability
PMID: 38579006
Disease Associationsⓘ21
hypotrichosis 1Open Targets
0.56Moderate
hypotrichosis simplexOpen Targets
0.50Moderate
androgenetic alopeciaOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.34Weak
goutOpen Targets
0.34Weak
hypertrophic cardiomyopathyOpen Targets
0.31Weak
aortic valve stenosisOpen Targets
0.26Weak
alopeciaOpen Targets
0.20Weak
adrenal gland hyperfunctionOpen Targets
0.19Weak
infectious arthritisOpen Targets
0.19Weak
gastric ulcerOpen Targets
0.18Weak
hemorrhageOpen Targets
0.18Weak
type 1 diabetes mellitusOpen Targets
0.18Weak
hyperaldosteronismOpen Targets
0.18Weak
Abnormal pupillary functionOpen Targets
0.18Weak
systemic lupus erythematosusOpen Targets
0.17Weak
carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
adenomaOpen Targets
0.05Suggestive
urinary bladder carcinomaOpen Targets
0.05Suggestive
Hypotrichosis 1UniProt
Pathogenic Variants1
NM_153000.5(APCDD1):c.26T>G (p.Leu9Arg)Pathogenic
Hypotrichosis 1
☆☆☆☆2012→ Residue 9
View on ClinVar ↗
Related Genes
LRP5Protein interaction96%WNT3AProtein interaction96%CD7Protein interaction83%LOC112267897Shared pathway50%APCDD1LShared pathway50%CXXC4Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Heart
89%
Brain
37%
Lung
26%
Liver
4%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
APCDD1LRP5WNT3ACD7LOC112267897APCDD1LCXXC4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8J025
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.59Intermediate
Observed/Expected LoF0.39 [0.26–0.59]
RankingsWhere APCDD1 stands among ~20K protein-coding genes
  • #13,602of 20,598
    Most Researched22
  • #5,346of 5,498
    Most Pathogenic Variants1
  • #3,956of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedAPCDD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve.
PMID: 36325906
Circulation · 2023
1.00
2
Adaptive functions of structural variants in human brain development.
PMID: 38579006
Sci Adv · 2024
0.90
3
Isolation of a novel human gene, APCDD1, as a direct target of the beta-Catenin/T-cell factor 4 complex with probable involvement in colorectal carcinogenesis.
PMID: 12384519
Cancer Res · 2002
0.80
4
Lactate derived from cancer-associated fibroblasts promotes alternative splicing and castration resistance in prostate cancer.
PMID: 41544173
Sci Adv · 2026
0.70
5
Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia.
PMID: 38871723
Nat Commun · 2024
0.60