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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PORCN Gene

protein-coding   GIFtS: 54
GCID: GC0XP048367

porcupine homolog (Drosophila)
 Explore 18 diseases affiliated with
PORCN via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PORCN    

Aliases
for PORCN gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Porcupine Homolog (Drosophila)1 2     FODH2 5
PORC1 2 3 5     2410004O13Rik2
MG611 2 3     Probable Protein-Cysteine N-Palmitoyltransferase Porcupine2
PPN1 2 3     Protein-Cysteine N-Palmitoyltransferase Porcupine2
Por1     EC 2.3.1.-3
DHOF2 5     Protein MG613

External Ids:    HGNC: 176521   Entrez Gene: 648402   Ensembl: ENSG000001023127   OMIM: 3006515   UniProtKB: Q9H2373   

Export aliases for PORCN gene to outside databases

Previous GC identifers: GC0XP047414 GC0XP048123 GC0XP048262 GC0XP046031


Summaries
for PORCN gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PORCN:
This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the Porc family encode
endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing
of Wnt (wingless and int homologue) proteins. Multiple alternatively spliced transcript variants encoding distinct
isoforms have been observed. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PORCN_HUMAN, Q9H237
Function: protein-cysteine N-palmitoyltransferase that modulates the processing of Wnt proteins by mediating serine
palmitoylation of Wnt family members




Genomic Views
for PORCN gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_079573.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PORCN gene promoter:
         CREB   PPAR-gamma1   p53   deltaCREB   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PORCN promoter sequence
   Search SABiosciences Chromatin IP Primers for PORCN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PORCN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23

PORCN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PORCN gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP048367:  view genomic region     (about GC identifiers)

Start:
 48,367,350 bp from pter      End:
 48,379,202 bp from pter
Size:
 11,853 bases      Orientation:
 plus strand

Proteins
for PORCN gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PORCN_HUMAN, Q9H237 (See protein sequence)
Recommended Name: Protein-cysteine N-palmitoyltransferase porcupine  
Size: 461 amino acids; 52318 Da
Subunit: Interacts with WNT1, WNT3, WNT3A, WNT4, WNT5A, WNT5B, WNT6, WNT7A and WNT7B (By similarity)
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
Sequence caution: Sequence=AAA74510.1; Type=Miscellaneous discrepancy; Note=The sequence differs from that shown
upstream of position 63 for unknown reasons;
Secondary accessions: B2RBN8 Q14829 Q9H234 Q9H235 Q9H236 Q9UJU7
Alternative splicing: 4 isoforms:  Q9H237-1   Q9H237-2   Q9H237-3   Q9H237-4   

Explore the universe of human proteins at neXtProt for PORCN: NX_Q9H237

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H237

    • PORCN Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_073736.2  NP_982299.1  NP_982300.1  NP_982301.1  

    ENSEMBL proteins: 
     ENSP00000352946   ENSP00000419858   ENSP00000420445   ENSP00000348233   ENSP00000431224  
     ENSP00000419212   ENSP00000354978   ENSP00000418644   ENSP00000322304   ENSP00000446401  
     ENSP00000347207   ENSP00000356546  

    Human Recombinant Protein Products: 
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    Novus Biologicals PORCN Proteins
    Novus Biologicals PORCN Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PORCN

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane ----
    GO:0016021integral to membrane ----
    GO:0030176integral to endoplasmic reticulum membrane IEA--


    PORCN for ontologies           About GeneDecksing



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    Uscn Antibodies for PORCN
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    Uscn ELISAs and CLIAs for PORCN

    Protein Domains /
    Families
    for PORCN gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PORCN for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR004299 MBOAT_fam

    Graphical View of Domain Structure for InterPro Entry Q9H237

    ProtoNet protein and cluster: Q9H237

    UniProtKB/Swiss-Prot: PORCN_HUMAN, Q9H237
    Similarity: Belongs to the membrane-bound acyltransferase family. Porcupine subfamily


    Function
    for PORCN gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PORCN_HUMAN, Q9H237
    Function: protein-cysteine N-palmitoyltransferase that modulates the processing of Wnt proteins by mediating serine
    palmitoylation of Wnt family members

    Enzyme Number (IUBMB): EC 2.3.1.-1

    miRNA
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    hsa-miR-3685 hsa-miR-3163 hsa-miR-495 hsa-miR-642a hsa-miR-4297 hsa-miR-1291 hsa-miR-514 hsa-miR-608
    SwitchGear 3'UTR luciferase reporter plasmid: PORCN 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PORCN 

    Cell Line
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    Search LifeMap BioReagents cell lines for PORCN

    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0016740transferase activity ----
    GO:0016746transferase activity, transferring acyl groups IEA--


    PORCN for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Porcntm1.2Vdv for PORCN
         14 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Porcn):
     adipose tissue  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size  integument  limbs/digits/tail  mortality/aging  nervous system 
     normal  renal/urinary system  reproductive system  skeleton 

    PORCN for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PORCN gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt Signaling Pathway
    		Wnt signaling pathway0.30

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for PORCN):
        Wnt signaling pathway


    PORCN for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PORCN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/21 Interacting proteins for PORCN (Q9H2373 ENSP000003223044) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WNT4P567053, ENSP000002901674I2D: score=5 STRING: ENSP00000290167
    WNT1P046283, ENSP000002935494I2D: score=4 STRING: ENSP00000293549
    WNT5BQ9H1J73, ENSP000003088874I2D: score=4 STRING: ENSP00000308887
    WNT6Q9Y6F93, ENSP000002339484I2D: score=4 STRING: ENSP00000233948
    WNT3P567033, ENSP000002255124I2D: score=3 STRING: ENSP00000225512
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009100glycoprotein metabolic process IEA--
    GO:0016055Wnt receptor signaling pathway IEA--


    PORCN for ontologies           About GeneDecksing



    Drugs & Compounds
    for PORCN gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PORCN for compounds           About GeneDecksing

    EMD Millipore small molecules for PORCN:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PORCN
    1 Novoseek chemical compound relationship for PORCN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    protochlorophyllide 93 6 14688290 (1), 18282136 (1), 15842619 (1), 18591656 (1)

    Search CenterWatch for drugs/clinical trials and news about PORCN 

    Transcripts
    for PORCN gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PORCN gene (5 alternative transcripts): 
    NM_022825.2  NM_203473.1  NM_203474.1  NM_203475.1  NM_203476.1  

    Unigene Cluster for PORCN:

    Porcupine homolog (Drosophila)
    Hs.386453  [show with all ESTs]
    Unigene Representative Sequence: AK056340
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359882(uc004djs.1 uc010nie.1) ENST00000486272 ENST00000472520
    ENST00000485288 ENST00000355961(uc004djr.1) ENST00000528612 ENST00000489940
    ENST00000491243(uc004dju.1) ENST00000361988 ENST00000470275 ENST00000326194(uc004djv.1)
    ENST00000459953 ENST00000537758 ENST00000355092(uc004djw.1) ENST00000367574(uc004djq.1 uc011mlx.1)


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    hsa-miR-3685 hsa-miR-3163 hsa-miR-495 hsa-miR-642a hsa-miR-4297 hsa-miR-1291 hsa-miR-514 hsa-miR-608
    SwitchGear 3'UTR luciferase reporter plasmid: PORCN 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PORCN (see all 4)
    OriGene shRNA RFP: PORCN
    OriGene siRNA: PORCN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PORCN
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): PORCN (NM_203474)
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PORCN

    Additional cDNA sequence: 

    AF317058.1 AF317059.1 AF317060.1 AF317061.1 AK056340.1 AK057727.1 AK293347.1 AK314745.1 
    AK316378.1 BC019080.2 L08239.1 

    9 DOTS entries:

    DT.95145645  DT.209337  DT.100775131  DT.95364889  DT.100643177  DT.95364890  DT.95152129  DT.100025337 
    DT.75187130 

    24/77 AceView cDNA sequences (see all 77):

    BU542601 AF317060 NM_203473 AW385398 BC019080 AI932628 AL711347 NM_203474 
    BQ669093 AK056340 NM_203476 BM543485 CD172187 NM_203475 AF317061 CA430685 
    AF317059 AK057727 BU684910 CN483202 NM_022825 AF317058 AL538245 BX280036 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for PORCN (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^
    SP1:                                                                                -                                         -                       -         
    SP2:                                -     -                       -                                                           -                       -         
    SP3:                                                                                -     -                                   -                       -         
    SP4:                                -     -                       -                 -     -                                                                     
    SP5:                                -     -                                         -     -                                                                     

    ExUns: 14
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for PORCN

    Expression
    for PORCN gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PORCN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTGTCAATC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PORCN expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeRetinaEye
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    Definitive endoderm-like cells (A scalable, suspensi...)

    See PORCN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PORCN

    SOURCE GeneReport for Unigene cluster: Hs.386453

    UniProtKB/Swiss-Prot: PORCN_HUMAN, Q9H237
    Tissue specificity: Isoform 1 is expressed in fetal brain, brain, amygdala, caudate nucleus, cerebellum, hippocampus,
    pituitary, thalamus, heart, skeletal muscle and testis. Isoform 4 is expressed in amygdala, corpus callosum,
    hippocampus, spinal cord, kidney, liver, lung, spleen, uterus, testis. Isoform 2 and isoform 3 are expressed in
    substantia negra, spinal cord, heart and lung

        SABiosciences Expression via Pathway-Focused PCR Array including PORCN: 
              WNT Signaling Pathway in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for PORCN gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for PORCN gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Porcn1 , 5 porcupine homolog (Drosophila)1, 5 93.48(n)1
    96.92(a)1    		   X (3.70 cM)5
    536271  NM_023638.31  NP_076127.11 
     81938485 
    lizard
    (Anolis carolinensis)    		 Reptilia PORCN6
    		 --
    		 76(a)
    		 1 ↔ 1
    		 GL343326.1(726032-744244)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xporc-d2 porcupine-D 77.65(n)    AB036753.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufi26a042 wufi26a04 72.89(n)   333999  BC044156.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta por6
    		 porcupine
    		 27(a)
    		 1 ↔ 1
    		 X(18271554-18273887)
    worm
    (Caenorhabditis elegans)    		 Secernentea mom-16
    		 Probable protein-cysteine N-palmitoyltransferase p...
    		 25(a)
    		 1 ↔ 1
    		 X(6293091-6298161)


    ENSEMBL Gene Tree for PORCN (if available)
    TreeFam Gene Tree for PORCN (if available) 

    Paralogs
    for PORCN gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for PORCN gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/126 NCBI SNPs in PORCN are shown (see all 126)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2004612541,2
    		--48365404(+) GGTGC-/TTGTGG 2 -- us2k10--------
    rs66515901,2
    		C,F,H,--48365517(+) GAATTG/TATATT 2 -- us2k1 tfbs316Minor allele frequency- T:0.47NS EA NA WA 1971
    rs734857171,2
    		C,--48365571(+) TTACCA/GTATTA 2 -- us2k10--------
    rs1407941271,2
    		--48365625(+) GAACTC/GCATTT 2 -- us2k10--------
    rs1873420811,2
    		--48365636(+) AACTTA/CATGTT 2 -- us2k10--------
    rs117966551,2
    		C,F,H,--48365680(+) TACCAC/TTGGTG 2 -- us2k1 tfbs33Minor allele frequency- T:0.33NA WA 6
    rs78886091,2
    		C,--48365741(+) CAATGA/GAGACG 2 -- us2k12Minor allele frequency- G:0.25WA 4
    rs1494074911,2
    		--48365847(+) TTTGAC/TCTGGG 2 -- us2k10--------
    rs78888141,2
    		C,--48366102(+) AGTTTT/CGCTCT 2 -- us2k12Minor allele frequency- C:0.25WA 4
    rs1921248571,2
    		--48366544(+) GCCTGG/TCTAAT 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for PORCN (48367350 - 48379202 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PORCN
         1 CNV: 7789
    Human Gene Mutation Database (HGMD): PORCN

    Locus Specific Mutation Databases (LSDB): PORCN

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PORCN
    DNA2.0 Custom Variant and Variant Library Synthesis for PORCN

    Disorders / Diseases
    for PORCN gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PORCN for disorders           About GeneDecksing

    OMIM gene information: 300651   
    OMIM disorders: 305600  
    UniProtKB/Swiss-Prot: PORCN_HUMAN, Q9H237
  • Defects in PORCN are the cause of focal dermal hypoplasia (FODH) [MIM:305600]; also known as Goltz Gorlin
    • syndrome. A rare congenital ectomesodermal disorder characterized by a combination of skin defects, skeletal
    abnormalities, and ocular anomalies. Affected individuals have patchy dermal hypoplasia, often in a distribution
    pattern following the Blaschko lines, and areas of subcutaneous fat herniation or deposition of fat into the dermis.
    In addition, sparse and brittle hair, hypoplastic nails and papillomas have been described. Skeletal abnormalities
    usually comprise syndactyly, ectrodactyly, and brachydactyly, and in some cases osteopathia striata has been seen.
    Patients frequently have ocular anomalies, including microphthalmia/ anophthalmia, coloboma, pigmentary and
    vascularization defects of the retina. Dental abnormalities are often present

    18 diseases for PORCN:    About MalaCards
    benign paroxysmal positional nystagmus    angioma serpiginosum    focal dermal hypoplasia    non-small cell lung carcinoma
    phlebitis    corpus callosum    nystagmus    ectrodactyly
    anophthalmia    syndactyly    brachydactyly    coloboma
    microphthalmia    polyneuropathy    lung carcinoma    parkinson's disease
    lung cancer    carcinoma

    3 diseases from the University of Copenhagen DISEASES database for PORCN:
    Focal dermal hypoplasia     Angioma serpiginosum     Parkinson's disease
    GeneTests: PORCN
    Focal Dermal Hypoplasia


    Export disorders for PORCN gene to outside databases

    Publications
    for PORCN gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PORCN gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with PORCN)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine. (PubMed id 12034504)1, 2, 3 Caricasole A.... Terstappen G.C. (2002)
    2. Mutation update for the PORCN gene. (PubMed id 21472892)1, 2 Lombardi M.P.... Hennekam R.C. (2011)
    3. Phenotype and genotype in 17 patients with Goltz-Gorl in syndrome. (PubMed id 19586929)1, 2 Maas S.M....Hennekam R.C. (2009)
    4. Goltz-Gorlin (focal dermal hypoplasia) and the microp hthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overla p. (PubMed id 19277062)1, 2 Harmsen M.B....Kutsche K. (2009)
    5. Novel PORCN mutations in focal dermal hypoplasia. (PubMed id 19863546)1, 2 Froyen G....Ala-Mello S. (2009)
    6. PORCN mutations in focal dermal hypoplasia: coping with lethality. (PubMed id 19309688)1, 2 Bornholdt D.... Grzeschik K.-H. (2009)
    7. Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. (PubMed id 18325042)1, 2 Leoyklang P.... Shotelersuk V. (2008)
    8. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. (PubMed id 17546031)1, 2 Grzeschik K.-H.... Happle R. (2007)
    9. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. (PubMed id 17546030)1, 2 Wang X....Van den Veyver I.B. (2007)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for PORCN gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing PORCN gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64840 HGNC: 17652 AceView: PORCN Ensembl:ENSG00000102312 euGenes: HUgn64840
    ECgene: PORCN Kegg: 64840 H-InvDB: PORCN

    Other Databases showing PORCN gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PORCN gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PORCN Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PORCN

    Intellectual Property
    for PORCN gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PORCN gene:
    Search GeneIP for patents involving PORCN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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