The PORCN gene homepage

General information
Gene symbol PORCN
Gene name porcupine homolog (Drosophila)
Chromosome X
Chromosomal band p11.23
Imprinted Unknown
Genomic reference NG_009278.1
Transcript reference NM_203475.1
Exon/intron information NM_203475.1 exon/intron table
Associated with diseases FDH, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Maria Paola Lombardi and Raoul Hennekam
Total number of public variants reported 277
Unique public DNA variants reported 186
Individuals with public variants 230
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created February 12, 2010
Date last updated January 11, 2023
Version PORCN:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_203475.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 17652
Entrez Gene 64840
PubMed articles PORCN
OMIM - Gene 300651
OMIM - Diseases FDH (hypoplasia, dermal, focal (FDH))
GeneCards PORCN
GeneTests PORCN
Orphanet PORCN

Active transcripts




NCBI ID     

NCBI Protein ID     

00023900 X transcript variant D NM_203475.1 NP_982301.1 277

Copyright & disclaimer
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