Gene
PSMB9
proteasome 20S subunit beta 9
- HGNC 9546↗(opens in a new tab)
- Ensembl gene ENSG00000240065↗(opens in a new tab)
- NCBI Gene 5698↗(opens in a new tab)
Summary
- Cytogenetic location
- 6p21.32
- Coordinates
- Chromosome 6: 32,854,192–32,859,851 (GRCh38)
- Exons
- 6 exons across 5.7 kb
- Protein
- 219 amino acids
- Inheritance
- Autosomal dominant Autosomal recessive
- Also known as
- RING12, beta1i, PSMB6i
- Previous symbols
- LMP2
- MANE Select transcript
- ENST00000374859.3NM_002800.5
- 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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Get my Genome TestCurated 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.
- 1 GenCC submitter rates 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).
- 1 GenCC submitter rates 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 PSMB9 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- 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 kb of the gene's 5.7 kb; 660 of those bases code for the protein.
Genes linked to the same conditions
- POMPproteasome maturation proteinShares 2 conditions
- PSMB10proteasome 20S subunit beta 10Shares 2 conditions
- PSMB8proteasome 20S subunit beta 8Shares 2 conditions
- ACP5acid phosphatase 5, tartrate resistantShares 1 condition
- ADA2adenosine deaminase 2Shares 1 condition
- ADARadenosine deaminase RNA specificShares 1 condition
- COPAcoat protein complex I subunit alphaShares 1 condition
- IFIH1interferon induced with helicase C domain 1Shares 1 condition
- POLA1DNA polymerase alpha 1, catalytic subunitShares 1 condition
- PTPN2protein tyrosine phosphatase non-receptor type 2Shares 1 condition
- RIGIRNA sensor RIG-IShares 1 condition
- RNASEH2Aribonuclease H2 subunit AShares 1 condition
Traits linked to PSMB9
The Human Phenotype Ontology lists these as features of the rare conditions PSMB9 can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Elevated blood creatine phosphokinase
- Elevated circulating alanine aminotransferase concentration
- Elevated circulating aspartate aminotransferase concentration
- Elevated circulating C-reactive protein concentration
- Elevated circulating myoglobin concentration
- Elevated circulating sCD25 concentration
- Elevated serum ferritin
- Fever
Abnormality of the immune system
- Increased circulating interferon-gamma concentration
- Increased circulating interleukin 18 concentration
- Increased circulating interleukin 6 concentration
- Muscle inflammation
- Skin rash
- Elevated circulating tumor necrosis factor alpha concentration
- Increased circulating interleukin 10 concentration
- Increased circulating interleukin 1beta concentration
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.
- 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.
- 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.). PSMB9 gene: proteasome 20S subunit beta 9. Retrieved 17 October 2026, from https://dantelabs.com/genes/psmb9
Dante Labs. PSMB9 gene: proteasome 20S subunit beta 9 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/psmb9
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