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Porcn Gene Detail
Summary
  • Symbol
    Porcn
  • Name
    porcupine O-acyltransferase
  • Synonyms
    2410004O13Rik, DXHXS7465e, mMg61, Mporc, porc
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890212
    NCBI Gene: 53627
  • Alliance
Location & Maps
more
  • Genetic Map
    Chromosome X, 3.70 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    PORCN, porcupine O-acyltransferase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PORCN, porcupine O-acyltransferase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DHOF, FODH, MG61, PORC, PPN
  • Links
    NCBI Gene ID: 64840
    neXtProt AC: NX_Q9H237
    UniProt: Q9H237

  • Chr Location
    Xp11.23; chrX:48508954-48520814 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Porcn mouse models; 1 with human PORCN associations

Human Disease Mouse Models
      
IDs
View 8 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    66 phenotypes from 6 alleles in 14 genetic backgrounds
    31 images
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a conditional allele activated in the epiblast exhibit abnormal mesoderm development, dermal atrophy, sternum hypoplasia, cleft palate, tail hypoplasia, absence of the autopod, abnormal hair follicle development, and perinatal lethality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000018131 VEGA Gene Model | MGI Sequence Detail 12678 C57BL/6J ±  kb
    transcript OTTMUST00000043787 VEGA | MGI Sequence Detail 1872 Not Applicable  
    polypeptide OTTMUSP00000019663 VEGA | MGI Sequence Detail 461 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      48 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
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    • All nucleic 26
      Genomic 2
      cDNA 21
      Primer pair 2
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
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    MGI:1099441, MGI:1919237, MGI:2147986
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 6
      Diseases 2
      Gene Ontology 7
      Phenotypes 23
    • Earliest
      J:50325 Reed V, et al., Characterisation of X-linked developmental mutants with craniofacial abnormalities. 12th International Mouse Genome Conference 9/29/98 - 10/3/98, Garmisch-Pastenkerchen, Germany. 1998;:E24 (Abstr.)
    • Latest
      J:261642 Shoshkes-Carmel M, et al., Subepithelial telocytes are an important source of Wnts that supports intestinal crypts. Nature. 2018 May;557(7704):242-246

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory