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Porcn
Gene Detail
Symbol

Name
ID
Porcn
porcupine homolog (Drosophila)
MGI:1890212
Synonyms
2410004O13Rik, DXHXS7465e, mMg61, Mporc, porc
Feature Type
protein coding gene
Genetic Map
Chromosome X
3.70 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
ChrX:8193848-8206525 bp, - strand
From VEGA annotation of GRCm38

  12678 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:41529  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: PORCN
Gene Tree: Porcn

Human
homologs
PORCN, porcupine homolog (Drosophila)
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 64840
neXtProt AC: NX_Q9H237

Human Synonyms: DHOF, FODH, MG61, PORC, PPN

Human Chr (Location): Xp11.23; chrX:48508959-48520814 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PORCN

Mutations,
alleles, and
phenotypes
All mutations/alleles(25) : Gene trapped(18) Targeted(7)
 
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.
 
Human Diseases Modeled in Mice Using Porcn (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(31)
Interactions
Porcn interacts with 90 markers (Mir7-1, Mir20a, Mir92-2, ...)
Expression
Literature Summary: (5 records)
Data Summary: Results (260)    Tissues (116)    Images (28)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 238
RT-PCR 14
RNase protection 8
cDNA source data(20)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase porcn ; ZFIN porcn    NEW 
Molecular
reagents
All nucleic(25) Genomic(2) cDNA(20) Primer pair(2) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000018131 (Evidence)
Ensembl Gene Model ENSMUSG00000031169 (Evidence)
Entrez Gene 53627 (Evidence)
UniGene 443425
DFCI TC1592988, TC1624483, TC1581971, TC1596351
DoTS DT.55154857, DT.94132229
NIA Mouse Gene Index U039244
EC 2.3.1.-
Consensus CDS Project CCDS29990.1, CCDS29991.1, CCDS29992.1, CCDS29993.1
International Mouse Phenotyping Consortium Status Porcn
Sequences
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 sequences
All sequences(76) RefSeq(22) UniProt(4)
Polymorphisms
RFLP(1) : SNPs within 2kb(48 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004299 Membrane bound O-acyl transferase, MBOAT
Protein Ontology PR:000030936 protein-cysteine N-palmitoyltransferase porcupine
References
(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:218165 Bankhead EJ, et al., Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis. Am J Pathol. 2015 Jan;185(1):197-213
All references(55)
Disease annotation references (2)
Other
accession IDs
MGI:1099441, MGI:1919237, MGI:2147986

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory