Gene
PSMD12
proteasome 26S subunit, non-ATPase 12
- HGNC 9557↗(opens in a new tab)
- Ensembl gene ENSG00000197170↗(opens in a new tab)
- NCBI Gene 5718↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q24.2
- Coordinates
- Chromosome 17: 67,337,916–67,366,577 (GRCh38)
- Exons
- 11 exons across 28.7 kb
- Protein
- 456 amino acids
- Also known as
- p55, Rpn5
- MANE Select transcript
- ENST00000356126.8NM_002816.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads PSMD12 yet. The test sequences your whole genome, so your data includes it all the same.
How PSMD12 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 4.4 kb of the gene's 28.7 kb; 1,371 of those bases code for the protein.
How a genome test reads PSMD12
14
positions in PSMD12 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 28.7 kb of PSMD12, introns included, not only the 4.4 kb of exons.
Traits linked to PSMD12
The Human Phenotype Ontology lists these as features of the rare conditions PSMD12 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Broad forehead
- Broad head shape
- Frontal bossing
- High palate
- Narrow mouth
- Narrow palate
- Wide nasal bridge
- Abnormal dental position
Show 21 more traits
- Broad neck
- Downward slanting of the opening between the eyelids
- Facial asymmetry
- Little lower jaw
- Midface retrusion
- Monobrow
- Prominent nose
- Receding chin
- Short neck
- Short philtrum
- Thick eyebrow
- Thin red part of the upper lip
- Triangular face
- Upward slanting of the opening between the eyelids
- Bad bite
- Broad uvula
- Cleft palate
- Dental crowding
- Failure of development of more than six teeth
- Low hanging columella
- Narrow eyelid opening
Abnormality of the genitourinary system
- Ovarian teratoma
- Short penis
- Undescended testes
- Chordee
- Crossed fused renal ectopia
- Double ureter
- Hypospadias
- Previous menstrual periods stop
Show 2 more traits
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 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). PSMD12 gene: proteasome 26S subunit, non-ATPase 12. Retrieved 17 October 2026, from https://dantelabs.com/genes/psmd12
Dante Labs. PSMD12 gene: proteasome 26S subunit, non-ATPase 12 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/psmd12
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