PORCN Chromosome X
Porcupine O-acyltransferase
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What This Gene Does
This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Disruption of this gene is associated with focal dermal hypoplasia, and the encoded protein has been implicated in cancer. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Membrane bound O-acyltransferase family
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000102312
Associated Conditions (10)
Inborn genetic diseases
PORCN-related disorder
Uterine corpus endometrial carcinoma
Focal dermal hypoplasia
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Global developmental delay
Anophthalmia-microphthalmia syndrome
Key Variants
RS1158822302
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145839490
Conflicting classifications of pathogenicity
PORCN-related disorder, Inborn genetic diseases, PORCN-related disorder
Health Risk
RS1556974682
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200263603
Conflicting classifications of pathogenicity
Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
Health Risk
RS2061711638
Conflicting classifications of pathogenicity
Focal dermal hypoplasia, Focal dermal hypoplasia
Health Risk
RS2519471462
Conflicting classifications of pathogenicity
Focal dermal hypoplasia, Focal dermal hypoplasia
Health Risk
RS372673870
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS398124616
Conflicting classifications of pathogenicity
Health Risk
RS782735906
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057519006
Likely pathogenic
Focal dermal hypoplasia, Focal dermal hypoplasia
Health Risk
RS1064795419
Likely pathogenic
Health Risk
RS1085307706
Likely pathogenic
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS398124617 | Health Risk | Pathogenic | — |
| RS587776737 | Health Risk | Pathogenic | Focal dermal hypoplasia, Focal dermal hypoplasia |
| RS2147131642 | Health Risk | Pathogenic/Likely pathogenic | Focal dermal hypoplasia, Focal dermal hypoplasia |
| RS2147139830 | Health Risk | Pathogenic/Likely pathogenic | Focal dermal hypoplasia, Focal dermal hypoplasia |