PORCN Gene - Porecn Homolog (Drosophila)
Key regulator of Wnt signaling and developmental morphogenesis
Gene Information Card
| Symbol | PORCN |
|---|---|
| Full Name | Porcupine Homolog (Drosophila) |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 64840 ncbi.nlm.nih.gov/gene/64840 |
| Ensembl ID | ENSG00000102316 |
| UniProt ID | Q9H237 |
| OMIM ID | 300651 |
| HGNC ID | 17652 |
| Aliases | PORC, MG61, PPN, DHRS22 |
Description
The PORCN gene encodes an endoplasmic reticulum transmembrane O-acyltransferase that catalyzes the palmitoleoylation of Wnt proteins, a critical post-translational modification required for Wnt secretion and signaling. PORCN is essential for embryonic development, stem cell maintenance, and tissue homeostasis. Loss-of-function mutations cause X-linked dominant focal dermal hypoplasia (Goltz syndrome).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Focal Dermal Hypoplasia (Goltz Syndrome) | Loss-of-function mutations impair Wnt palmitoleoylation, disrupting Wnt signaling and leading to ectodermal and mesodermal defects. | OMIM #305600; ClinVar pathogenic variants |
| PORCN-Related Developmental Disorders | Missense or nonsense variants reduce PORCN activity, causing variable syndromic features including limb anomalies and skin atrophy. | ClinVar; multiple case reports |
| Cancer (Wnt-dependent tumors) | PORCN overexpression or gain-of-function may enhance Wnt signaling in colorectal, breast, and other cancers. | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Breast | 9.8 | Medium |
| Colon | 7.2 | Low |
| Brain | 4.1 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 10.5 | Medium expression |
| MCF7 | 8.2 | Medium expression |
| HCT116 | 6.0 | Low expression |
| HepG2 | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1093C>T (p.Arg365*) | Nonsense | Rare | Loss-of-function; truncated protein |
| c.1079G>A (p.Arg360Gln) | Missense | Rare | Reduced acyltransferase activity |
| c.1246C>T (p.Arg416Trp) | Missense | Rare | Impaired Wnt palmitoleoylation |
| c.1022_1023del (p.Leu341Argfs*5) | Frameshift | Rare | Loss-of-function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Most PORCN mutations are loss-of-function, leading to reduced Wnt palmitoleoylation and secretion, causing focal dermal hypoplasia.
Gain of Function (GOF)
Not well documented; potential overexpression in Wnt-dependent cancers may act as gain-of-function.
Dominant Negative (DN)
Not reported for PORCN.
View complete mutation data：
Gene Ontology (GO)
| • O-acyltransferase activity (GO:0008374) | • integral component of membrane (GO:0016021) |
| • endoplasmic reticulum (GO:0005783) | • Wnt protein binding (GO:0017147) |
| • Wnt signaling pathway (GO:0016055) | • nervous system development (GO:0007399) |
Pathways
• Wnt signaling pathway (Reactome R-HSA-195721)
• Wnt ligand biogenesis and trafficking (Reactome R-HSA-3238698)
• Palmitoleoylation of Wnt proteins (Reactome R-HSA-5362768)
Protein Summary
PORCN (porcupine homolog) is a 461-amino acid transmembrane O-acyltransferase localized to the endoplasmic reticulum. It catalyzes the addition of palmitoleic acid to Wnt proteins at a conserved serine residue, enabling Wnt secretion and receptor binding. PORCN is essential for Wnt signaling, which regulates cell proliferation, differentiation, and embryonic patterning. Mutations cause focal dermal hypoplasia, and its dysregulation is implicated in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PORCN Knockout HEK293 Cell Line | EDJ-KQ14835 | Human | 64840 | Details Get a Quote |
| PORCN Knockout A-549 Cell Line | EDJ-KQ45281 | Human | 64840 | Details Get a Quote |
| PORCN Knockout HCT 116 Cell Line | EDJ-KQ45282 | Human | 64840 | Details Get a Quote |
| PORCN Knockout HeLa Cell Line | EDJ-KQ45283 | Human | 64840 | Details Get a Quote |
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