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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PORCN
porcupine O-acyltransferase
Chromosome X Β· Xp11.23
NCBI Gene: 64840Ensembl: ENSG00000102312.25HGNC: HGNC:17652UniProt: Q9H237
58PubMed Papers
21Diseases
1Drugs
64Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Variant-Rich
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
Wnt-protein bindingpalmitoleoyltransferase activityprotein lipidationWnt signaling pathwayfocal dermal hypoplasiagenetic disordercancermicrophthalmia, isolated, with coloboma
✦AI Summary

PORCN (porcupine O-acyltransferase) is a membrane-bound O-acyltransferase localized to the endoplasmic reticulum that serves as a critical regulator of Wnt signaling 1. The enzyme catalyzes palmitoleoylation of Wnt proteins by transferring palmitoleoyl groups to serine residues on the hairpin 2 motif of Wnt ligands 12. This post-translational lipid modification is essential for Wnt protein secretion and receptor binding, enabling Wnts to interact with Frizzled receptors to initiate downstream signaling 13. Mechanistically, PORCN accommodates two substrates in separate tunnels: palmitoleoyl-CoA enters from the cytosolic side while Wnt hairpin 2 inserts from the luminal side, with catalytic histidine facilitating the acyl transfer 12. During Wnt biogenesis, calreticulin functions as a chaperone to facilitate transfer of PORCN-modified Wnts to Wntless for intracellular transport 3. Clinically, PORCN mutations cause focal dermal hypoplasia (FDH), an X-linked dominant developmental disorder with skin, skeletal, and ocular manifestations 45. Additionally, aberrant Wnt signaling through PORCN dysregulation is implicated in multiple cancers including colorectal, pancreatic, and liver malignancies 67. PORCN inhibitors (LGK974, ETC-159, IWP-L6) are under development as cancer therapeutics, with some entering clinical trials 12.

Sources cited
1
PORCN (porcupine O-acyltransferase) is a membrane-bound O-acyltransferase localized to the endoplasmic reticulum that serves as a critical regulator of Wnt signaling .
PMID: 35831507
2
This post-translational lipid modification is essential for Wnt protein secretion and receptor binding, enabling Wnts to interact with Frizzled receptors to initiate downstream signaling , .
PMID: 37852257
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
focal dermal hypoplasiaOpen Targets
0.85Strong
genetic disorderOpen Targets
0.51Moderate
cancerOpen Targets
0.38Weak
microphthalmia, isolated, with colobomaOpen Targets
0.38Weak
polydactylyOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.34Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
squamous cell carcinomaOpen Targets
0.08Suggestive
brachydactyly-syndactyly syndromeOpen Targets
0.07Suggestive
brachydactyly type A2Open Targets
0.07Suggestive
brachydactyly type COpen Targets
0.07Suggestive
Syndactyly type 2Open Targets
0.07Suggestive
brachydactyly type A1Open Targets
0.07Suggestive
syndactyly type 5Open Targets
0.07Suggestive
syndactyly type 4Open Targets
0.07Suggestive
synpolydactyly type 1Open Targets
0.07Suggestive
polydactyly of a triphalangeal thumbOpen Targets
0.07Suggestive
brachydactyly type A7Open Targets
0.07Suggestive
Split hand-split foot malformationOpen Targets
0.07Suggestive
oral squamous cell carcinomaOpen Targets
0.07Suggestive
Focal dermal hypoplasiaUniProt
Pathogenic Variants64
NM_203475.3(PORCN):c.914G>A (p.Trp305Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 305
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter)Pathogenic
Focal dermal hypoplasia|not provided|Nonpapillary renal cell carcinoma
β˜…β˜…β˜†β˜†2025β†’ Residue 124
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)Pathogenic
Inborn genetic diseases|Focal dermal hypoplasia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 243
NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln)Pathogenic
Focal dermal hypoplasia|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 365
NM_203475.3(PORCN):c.946+2_946+3delPathogenic
Focal dermal hypoplasia|not provided
β˜…β˜…β˜†β˜†2024
NM_203475.3(PORCN):c.1076dup (p.Tyr359Ter)Pathogenic
Focal dermal hypoplasia|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 359
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter)Pathogenic
Focal dermal hypoplasia|Inborn genetic diseases
β˜…β˜…β˜†β˜†2023β†’ Residue 90
NM_203475.3(PORCN):c.1186C>T (p.Arg396Ter)Pathogenic
Focal dermal hypoplasia|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 396
NM_203475.3(PORCN):c.566G>A (p.Trp189Ter)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2021β†’ Residue 189
NM_203475.3(PORCN):c.373+1G>APathogenic
Thyroid cancer, nonmedullary, 1|Focal dermal hypoplasia
β˜…β˜†β˜†β˜†2025
NM_203475.3(PORCN):c.17del (p.Arg6fs)Pathogenic
Focal dermal hypoplasia
β˜…β˜†β˜†β˜†2025β†’ Residue 6
NM_203475.3(PORCN):c.503G>T (p.Gly168Val)Likely pathogenic
Focal dermal hypoplasia
β˜…β˜†β˜†β˜†2025β†’ Residue 168
NM_203475.3(PORCN):c.136+2delPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_203475.3(PORCN):c.983C>A (p.Ser328Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 328
NM_203475.3(PORCN):c.845+2T>GLikely pathogenic
PORCN-Related Developmental Disorders
β˜…β˜†β˜†β˜†2025
NM_203475.3(PORCN):c.720-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_203475.3(PORCN):c.1309_1315del (p.His437fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 437
NM_203475.3(PORCN):c.1383C>G (p.Gly461=)Likely pathogenic
Focal dermal hypoplasia
β˜…β˜†β˜†β˜†2025β†’ Residue 461
NM_203475.3(PORCN):c.-6_24delinsCCACC (p.Met1fs)Likely pathogenic
Focal dermal hypoplasia
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_203475.3(PORCN):c.845+1G>CPathogenic
not provided
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Drug Targets1
WNT-974Phase II
Probable protein-cysteine N-palmitoyltransferase porcupine inhibitor
squamous cell carcinoma
Related Genes
WNT3Protein interaction98%WNT8BProtein interaction98%WNT10BProtein interaction98%WNT1Protein interaction98%WNT7BProtein interaction98%WNT2BProtein interaction97%
Tissue Expression6 tissues
Heart
100%
Lung
57%
Ovary
54%
Brain
50%
Bone Marrow
33%
Liver
22%
Gene Interaction Network
Click a node to explore
PORCNWNT3WNT8BWNT10BWNT1WNT7BWNT2B
PROTEIN STRUCTURE
Preparing viewer…
PDB7URD Β· 2.92 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.11Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.02 [0.01–0.11]
RankingsWhere PORCN stands among ~20K protein-coding genes
  • #7,905of 20,598
    Most Researched58
  • #1,119of 5,498
    Most Pathogenic Variants64 Β· top quartile
  • #87of 17,882
    Most Constrained (LOEUF)0.11 Β· top 1%
Genes detectedPORCN
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mechanisms and inhibition of Porcupine-mediated Wnt acylation.
PMID: 35831507
Nature Β· 2022
1.00
2
Molecular basis of Wnt biogenesis, secretion, and Wnt7-specific signaling.
PMID: 37852257
Cell Β· 2023
0.90
3
PMID: 20301712
0.80
4
Structural model of human PORCN illuminates disease-associated variants and drug-binding sites.
PMID: 34817055
J Cell Sci Β· 2021
0.70
5
Mutation update for the PORCN gene.
PMID: 21472892
Hum Mutat Β· 2011
0.60