PORCN (porcupine O-acyltransferase)

2008-07-01  

Identity

HGNC
LOCATION
Xp11.23
LOCUSID
ALIAS
DHOF,FODH,MG61,PORC,PPN
FUSION GENES

Other Information

Locus ID:

NCBI: 64840
MIM: 300651
HGNC: 17652
Ensembl: ENSG00000102312

Variants:

dbSNP: 64840
ClinVar: 64840
TCGA: ENSG00000102312
COSMIC: PORCN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102312ENST00000326194Q9H237
ENSG00000102312ENST00000355961Q9H237
ENSG00000102312ENST00000359882Q9H237
ENSG00000102312ENST00000361988Q9H237
ENSG00000102312ENST00000367574Q9H237
ENSG00000102312ENST00000470275F2Z360
ENSG00000102312ENST00000472520F8WEW7
ENSG00000102312ENST00000485288F2Z360
ENSG00000102312ENST00000489940C9JWI5
ENSG00000102312ENST00000528612F2Z360
ENSG00000102312ENST00000537758Q9H237

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Wnt signaling pathwayKEGGko04310
Wnt signaling pathwayKEGGhsa04310
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by WNT in cancerREACTOMER-HSA-4791275
WNT ligand secretion is abrogated by the PORCN inhibitor LGK974REACTOMER-HSA-5340573
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
WNT ligand biogenesis and traffickingREACTOMER-HSA-3238698

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
175460302007Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.75
175460312007Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.75
262570572016Wnt addiction of genetically defined cancers reversed by PORCN inhibition.68
195869292009Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.16
225093162012PORCN moonlights in a Wnt-independent pathway that regulates cancer cell proliferation.16
214728922011Mutation update for the PORCN gene.15
254512262014Identification of the WNT1 residues required for palmitoylation by Porcupine.14
193096882009PORCN mutations in focal dermal hypoplasia: coping with lethality.12
246470482014Porcupine is not required for the production of the majority of Wnts from primary human astrocytes and CD8+ T cells.10
183250422008Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.9

Citation

Dessen P

PORCN (porcupine O-acyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50270/porcn