AtlasGene
PORCN
porcupine O-acyltransferase
- HGNC 17652↗(opens in a new tab)
- Ensembl gene ENSG00000102312↗(opens in a new tab)
- NCBI Gene 64840↗(opens in a new tab)
Summary
- Cytogenetic location
- Xp11.23
- Coordinates
- Chromosome X: 48,508,992–48,520,808 (GRCh38)
- Exons
- 15 exons across 11.8 kb
- Protein
- 461 amino acids
- Also known as
- MG61, PORC, PPN, por
- Previous symbols
- DHOF
- MANE Select transcript
- ENST00000326194.11NM_203475.3
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
AtlasThis page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/porcn.json"
page <- fromJSON(url)
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Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads PORCN yet. The test sequences your whole genome, so your data includes it all the same.
How PORCN is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.9 kb of the gene's 11.8 kb; 1,386 of those bases code for the protein.
Sequencing PORCN
25
positions in PORCN where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 11.8 kb of PORCN, introns included, not only the 1.9 kb of exons.
Traits linked to PORCN
The Human Phenotype Ontology lists these as features of the rare conditions PORCN can cause. Each trait's page lists the other genes linked to it.
Abnormality of the integument
- Focal dermal aplasia/hypoplasia
- Grooved nails
- Patchy lightened skin
- Atypical nail growth
- Diffuse skin atrophy
- Longitudinal splitting of nail
- Mixed hypo- and hyperpigmentation of the skin
- Poor nail formation
Show 30 more traits
- Abnormal fat tissue distribution below the skin
- Absence of part of skin at birth
- Brittle hair
- Decreased ability to sweat
- Dry skin
- Fine hair
- Firm lump under the skin
- Fragile skin
- Freckling
- Itching
- Liver spots
- Papilloma
- Patchy baldness
- Photosensitive skin
- Skin erosion
- Skin nodule
- Small nail
- Sparse hair
- Thin skin
- Trichorrhexis nodosa
- Absent nails
- Atypical scarring of skin
- Flattened and twisted hair
- Pili canaliculi
- Poor wound healing
- Absent fingernail
- Absent toenail
- Linear hyperpigmentation
- Reticular hyperpigmentation
- Skin degeneration
Abnormality of limbs
- 3-4 finger cutaneous syndactyly
- Shortened 4th long bone of hand
- Split hand
- Cleft hand
- Left and right leg differ in length or width
- Thickening of palms and soles
- Webbed fingers or toes
- Absent fingers or toes
Show 15 more traits
- More than five fingers or toes on hands or feet
- Osteopathia striata
- Transverse terminal limb defect
- Absent fingers
- Dislocated hip since birth
- Duplication of bones of the toes
- Extra little finger
- Fused toes
- Missing toes
- Short finger
- Short finger bones
- Short fingers or toes
- Short long bone of foot
- Shortened long bone of hand
- Split foot
Abnormality of the genitourinary system
- Underdeveloped labia
- Cystic kidney disease
- Absent/small kidney
- Horseshoe kidney
- Hydronephrosis
- Bifid ureter
- Double ureter
- Small clitoris
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). PORCN gene: porcupine O-acyltransferase. Retrieved 17 October 2026, from https://dantelabs.com/genes/porcn
Dante Labs. PORCN gene: porcupine O-acyltransferase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/porcn
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