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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
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:8060087-8072764 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 3.70 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    228 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890212
 protein coding gene ChrX:8060085-8072794 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035544
 protein coding gene ChrX:2842762-2855485 (-)
A/J MGP_AJ_G0035521
 protein coding gene ChrX:2821965-2836008 (-)
AKR/J MGP_AKRJ_G0035454
 protein coding gene ChrX:2934728-2947373 (-)
BALB/cJ MGP_BALBcJ_G0035518
 protein coding gene ChrX:2814527-2827190 (-)
C3H/HeJ MGP_C3HHeJ_G0035226
 protein coding gene ChrX:2904425-2917397 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036042
 protein coding gene ChrX:2941396-2954073 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032917
 protein coding gene ChrX:2341816-2354542 (-)
CAST/EiJ MGP_CASTEiJ_G0034527
 protein coding gene ChrX:2786116-2798713 (-)
CBA/J MGP_CBAJ_G0035196
 protein coding gene ChrX:3093134-3105811 (-)
DBA/2J MGP_DBA2J_G0035353
 protein coding gene ChrX:2801745-2814422 (-)
FVB/NJ MGP_FVBNJ_G0035300
 protein coding gene ChrX:2770406-2783061 (-)
LP/J MGP_LPJ_G0035430
 protein coding gene ChrX:2863878-2876595 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035340
 protein coding gene ChrX:3038273-3050949 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036060
 protein coding gene ChrX:2824269-2837964 (-)
PWK/PhJ MGP_PWKPhJ_G0034227
 protein coding gene ChrX:2744821-2757599 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034066
 protein coding gene ChrX:2801885-2814526 (-)
WSB/EiJ MGP_WSBEiJ_G0034650
 protein coding gene ChrX:2827999-2843018 (-)



Homology
more
  • Human Ortholog
    PORCN, porcupine O-acyltransferase
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PORCN, porcupine O-acyltransferase
  • Synonyms
    DHOF, FODH, MG61, PORC, PPN
  • Links
    NCBI Gene ID: 64840
    neXtProt AC: NX_Q9H237
    UniProt: Q9H237

  • Chr Location
    Xp11.23; chrX:48508959-48520814 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Porcn mouse models; 1 with human PORCN associations

Human Disease Mouse Models
      
IDs
 View 14 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    83 phenotypes from 7 alleles in 16 genetic backgrounds
    31 images
    36 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a conditional allele activated in the epiblast exhibit dermal atrophy, sternum hypoplasia, cleft palate, tail hypoplasia, absent autopod, and perinatal lethality. Mice hemizygous for a null allele exhibit eye defects modeling focal dermal hypoplasia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    33
  • GO References
    6
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1030
  • Tissues
    153
  • cDNA Data
    22
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031169 Ensembl Gene Model | MGI Sequence Detail 12678 C57BL/6J ±  kb
    transcript ENSMUST00000077595 Ensembl | MGI Sequence Detail 1872 Not Applicable  
    polypeptide ENSMUSP00000076790 Ensembl | MGI Sequence Detail 461 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 32
      Genomic 2
      cDNA 22
      Primer pair 5
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1099441, MGI:1919237, MGI:2147986
    References
    more
    • Summaries
      All 79
      Developmental Gene Expression 11
      Diseases 3
      Gene Ontology 6
      Phenotypes 36
    • 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:354288 Young CA, et al., A cochlear progenitor pool influences patterning of the mammalian sensory epithelium via MYBL2. Development. 2024 Sep 1;151(17)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    12/10/2024
    MGI 6.24     		The Jackson Laboratory