PORCN (porcupine O-acyltransferase)

2008-07-01  

Identity

HGNC
PORCN
LOCATION
Xp11.23
LOCUSID
64840
ALIAS
DHOF,FODH,MG61,PORC,PPN
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378124782024Inhibition of PORCN Blocks Wnt Signaling to Attenuate Progression of Oral Carcinogenesis.1
378124782024Inhibition of PORCN Blocks Wnt Signaling to Attenuate Progression of Oral Carcinogenesis.1
362150262023Suppression of Wnt/β-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease.3
368804562023A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review.1
362150262023Suppression of Wnt/β-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease.3
368804562023A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review.1
349620032022Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.0
350058372022A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia.0
358315072022Mechanisms and inhibition of Porcupine-mediated Wnt acylation.25
349620032022Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.0
350058372022A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia.0
358315072022Mechanisms and inhibition of Porcupine-mediated Wnt acylation.25
331114372021Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.0
335570412021De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.4
340154692021Responses of Porcupine and Wntless proteins to oxidative, hypoxic and endoplasmic reticulum stresses.2

Citation

Dessen P

PORCN (porcupine O-acyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

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