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PORCN Gene

protein-coding   GIFtS: 57
GCID: GC0XP048367

Porcupine Homolog (Drosophila)

(Previous names: dermal hypoplasia, focal)
(Previous symbol: DHOF)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Porcupine Homolog (Drosophila)1 2     Dermal Hypoplasia, Focal1
DHOF1 2 5     Probable Protein-Cysteine N-Palmitoyltransferase Porcupine2
PORC2 3 5     Protein-Cysteine N-Palmitoyltransferase Porcupine2
MG612 3     EC 2.3.1.-3
PPN2 3     Protein MG613
FODH2 5     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PORCN Gene:
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)

GeneCards Summary for PORCN Gene:
PORCN (porcupine homolog (Drosophila)) is a protein-coding gene. Diseases associated with PORCN include phlebitis, and focal dermal hypoplasia. GO annotations related to this gene include transferase activity, transferring acyl groups.

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




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_079573.5  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PORCN gene promoter:
         CREB   PPAR-gamma1   p53   deltaCREB   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPORCN promoter sequence
   Search Chromatin IP Primers for PORCN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)
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

Explore proteomics data for PORCN at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PORCN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001269096.1  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  
    Reactome Protein details: Q9H237

    PORCN Human Recombinant Protein Products:

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    Novus Biologicals PORCN Proteins
    Novus Biologicals PORCN Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PORCN

    PORCN Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PORCN
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    Novus Biologicals PORCN Antibodies
    Abcam antibodies for PORCN
    Cloud-Clone Corp. Antibodies for PORCN
    Search ThermoFisher Antibodies for PORCN
    LSBio Antibodies in human, mouse, rat for PORCN

    PORCN Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for PORCN
    Cloud-Clone Corp. CLIAs for PORCN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     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


    PORCN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 3 molecular function terms:    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


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Porcn):
     adipose tissue  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size/body  integument  limbs/digits/tail  mortality/aging  nervous system 
     normal  renal/urinary system  reproductive system  skeleton 

    PORCN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Porcntm1.2Vdv for PORCN

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PORCN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PORCN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PORCN
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PORCN

    miRNA
    Products:
        
    miRTarBase miRNAs that target PORCN:
    hsa-mir-124-3p (MIRT023034)

    Block miRNA regulation of human, mouse, rat PORCN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PORCN (see all 10):
    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 plasmidPORCN 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PORCN

    Gene Editing
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    OriGene ORF clones in mouse, rat for PORCN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): PORCN (NM_203474)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PORCN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PORCN

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    Browse ESI BIO Cell Lines and PureStem Progenitors for PORCN 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PORCN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PORCN_HUMAN, Q9H237: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus3
    plasma membrane3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane ----
    GO:0030176integral component of endoplasmic reticulum membrane IEA--
    GO:0032281alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex IEA--

    PORCN for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PORCN About    
    See pathways by source

    SuperPathContained pathways About
    1beta-catenin independent WNT signaling
    Signaling by Wnt0.79
    2Signaling by GPCR
    Signal Transduction0.58
    3Wnt Pathway
    WNT ligand biogenesis and trafficking0.56
    4Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for PORCN
        WNT ligand biogenesis and trafficking


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


    PORCN for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PORCN: 
              WNT Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PORCN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for PORCN (Q9H2373 ENSP000003223044) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    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:    About this table

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

    PORCN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PORCN

    1 Novoseek inferred 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)



    PORCN for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PORCN gene (6 alternative transcripts): 
    NM_001282167.1  NM_022825.3  NM_203473.2  NM_203474.1  NM_203475.2  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)


    miRNA
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    Block miRNA regulation of human, mouse, rat PORCN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PORCN (see all 10):
    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 plasmidPORCN 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PORCN
    Clone
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    OriGene clones in human, mouse for PORCN (see all 28)
    OriGene ORF clones in mouse, rat for PORCN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): PORCN (NM_203474)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PORCN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PORCN
    Primer
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    OriGene qPCR primer pairs and template standards for PORCN
    OriGene qSTAR qPCR primer pairs in human, mouse for PORCN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PORCN
      QuantiTect SYBR Green Assays in human, mouse, rat PORCN
      QuantiFast Probe-based Assays in human, mouse, rat PORCN

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 77):

    AI932628 NM_022825 BC019080 AL711347 CA430685 NM_203475 AL579208 AK056340 
    BU684910 AF317058 BM543485 NM_203473 CD172187 NM_203476 BU542601 AK057727 
    CR623014 AF317059 BQ669093 AW385398 NM_203474 CN483202 BU633310 AF317060 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PORCN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGTCAATC
    PORCN Expression
    About this image


    PORCN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Gonad
             Primordial Germ Cells Allantois
     
     Placenta (Extraembryonic Tissues)
             Primordial Germ Cells Allantois
     
     Eye (Sensory Organs)
             Retina
     
     Neural Tube (Nervous System)
             Telencephalon
    PORCN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PORCN Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including PORCN: 
              WNT Signaling Pathway in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PORCN
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    QuantiFast Probe-based Assays in human, mouse, rat PORCN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PORCN

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PORCN gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Porcn1 , 5 porcupine homolog (Drosophila)1, 5 93.55(n)1
    97.14(a)1
      X (3.70 cM)5
    536271  NM_145907.31  NP_665914.11 
     81938485 
    lizard
    (Anolis carolinensis)
    Reptilia PORCN6
    porcupine homolog (Drosophila)
    76(a)
    1 ↔ 1
    GL343326.1(722195-744244)
    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
    28(a)
    1 ↔ 1
    X(18271554-18273887)
    worm
    (Caenorhabditis elegans)
    Secernentea mom-16
    Protein MOM-1 (mom-1) mRNA, complete cds
    26(a)
    1 ↔ 1
    X(6293127-6298197) WBGene00003394


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

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

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PORCN (see all 207)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0589024
    Focal dermal hypoplasia (FODH)4--see VAR_0589022 V E mis40--------
    VAR_0350894
    Focal dermal hypoplasia (FODH)4--see VAR_0350892 G R mis40--------
    VAR_0589044
    Focal dermal hypoplasia (FODH)4--see VAR_0589042 R Q mis40--------
    VAR_0589054
    Focal dermal hypoplasia (FODH)4--see VAR_0589052 C R mis40--------
    VAR_0589064
    Focal dermal hypoplasia (FODH)4--see VAR_0589062 W R mis40--------
    VAR_0651934
    Focal dermal hypoplasia (FODH)4--see VAR_0651932 C Y mis40--------
    VAR_0588994
    Focal dermal hypoplasia (FODH)4--see VAR_0588992 S F mis40--------
    VAR_0651894
    Focal dermal hypoplasia (FODH)4--see VAR_0651892 H Y mis40--------
    VAR_0660614
    Focal dermal hypoplasia (FODH)4--see VAR_0660612 A P mis40--------
    VAR_0589034
    Focal dermal hypoplasia (FODH)4--see VAR_0589032 H L mis40--------

    HapMap Linkage Disequilibrium report for PORCN (48367350 - 48379202 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PORCN:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528292CNV Gain19592680
    esv32909CNV Gain+Loss17666407

    Human Gene Mutation Database (HGMD): PORCN
    Locus Specific Mutation Databases (LSDB): PORCN

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300651   
    OMIM disorders: 305600  
    UniProtKB/Swiss-Prot: PORCN_HUMAN, Q9H237
  • Focal dermal hypoplasia (FODH) [MIM:305600]: 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 16 diseases for PORCN:    
    About MalaCards
    phlebitis    focal dermal hypoplasia    angioma serpiginosum    benign paroxysmal positional nystagmus
    syndactyly    coloboma    brachydactyly    klinefelter's syndrome
    microphthalmia    polyneuropathy    papilloma    parkinson's disease
    lung cancer    multiple myeloma    myeloma    breast cancer

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

    PORCN for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    GeneTests: PORCN
    GeneReviews: PORCN

    Export disorders for PORCN gene to outside databases

    (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)
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    PubMed articles for PORCN gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with PORCN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. (PubMed id 17546030)1, 2, 3 Wang X....Van den Veyver I.B. (Nat. Genet. 2007)
    2. 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. (Gene 2002)
    3. Mutation update for the PORCN gene. (PubMed id 21472892)1, 2 Lombardi M.P.... Hennekam R.C. (Hum. Mutat. 2011)
    4. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. (PubMed id 19277062)1, 2 Harmsen M.B....Kutsche K. (Eur. J. Hum. Genet. 2009)
    5. Novel PORCN mutations in focal dermal hypoplasia. (PubMed id 19863546)1, 2 Froyen G.... Ala-Mello S. (Clin. Genet. 2009)
    6. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. (PubMed id 19586929)1, 2 Maas S.M.... Hennekam R.C. (J. Med. Genet. 2009)
    7. PORCN mutations in focal dermal hypoplasia: coping with lethality. (PubMed id 19309688)1, 2 Bornholdt D.... Grzeschik K.-H. (Hum. Mutat. 2009)
    8. Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. (PubMed id 18325042)1, 2 Leoyklang P.... Shotelersuk V. (Clin. Genet. 2008)
    9. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. (PubMed id 17546031)1, 2 Grzeschik K.-H.... Happle R. (Nat. Genet. 2007)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PORCN Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PORCN[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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