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Gene

POMP

proteasome maturation protein

Summary

Cytogenetic location
13q12.3
Coordinates
Chromosome 13: 28,659,130–28,678,959 (GRCh38)
Exons
6 exons across 19.8 kb
Protein
141 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
HSPC014, UMP1
Previous symbols
C13orf12
MANE Select transcript
ENST00000380842.5NM_015932.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Rare Monogenic Autoinflammatory Diseases

    • PTPN2-related autoinflammation and autoimmunityAutosomal dominant

      Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.

      • 2 GenCC submitters rate it definitive or strong

  • Type I Interferonopathies

    • Proteasome-associated autoinflammatory syndromes (CANDLE/PRAAS)Autosomal recessive

      Recurrent fevers, skin lesions, loss of fat tissue and joint problems caused by defects in the proteasome (PSMB8, PSMB9, PSMB10, POMP and others).

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How POMP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 13, with a bracket where POMP sits. POMP and 4 genes near it on chromosome 13, from 28,169,045 to 29,169,044.Chromosome 1313q12.3p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q3428.2 Mb28.4 Mb28.6 Mb28.8 Mb29 MbPAN3: 28,138,193–28,295,335, forward strandPAN3FLT1: 28,299,540–28,495,288, reverse strandFLT1POMP: 28,659,130–28,678,959, forward strandPOMPSLC46A3: 28,659,982–28,719,018, reverse strandSLC46A3MTUS2: 28,819,906–29,505,947, forward strandMTUS2Diagram of POMP: 6 exons on the forward strand of chromosome 13Exon 5: 1 known disease-causing siteExon 1: 28,659,130–28,659,187, 58 basesExon 2: 28,662,410–28,662,507, 98 basesExon 3: 28,664,509–28,664,569, 61 basesExon 4: 28,668,473–28,668,574, 102 basesExon 5: 28,672,339–28,672,432, 94 basesExon 6: 28,678,035–28,678,959, 925 bases1234565′3′

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 1.3 kb of the gene's 19.8 kb; 426 of those bases code for the protein.

How a genome test reads POMP

2

positions in POMP 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 19.8 kb of POMP, introns included, not only the 1.3 kb of exons.

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.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • 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 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). POMP gene: proteasome maturation protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/pomp

Vancouver

Dante Labs. POMP gene: proteasome maturation protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pomp

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