Gene
PSMB10
proteasome 20S subunit beta 10
- HGNC 9538↗(opens in a new tab)
- Ensembl gene ENSG00000205220↗(opens in a new tab)
- NCBI Gene 5699↗(opens in a new tab)
Summary
- Cytogenetic location
- 16q22.1
- Coordinates
- Chromosome 16: 67,934,506–67,936,850 (GRCh38)
- Exons
- 8 exons across 2.3 kb
- Protein
- 273 amino acids
- Inheritance
- Autosomal dominant Autosomal recessive
- Also known as
- LMP10, MGC1665, beta2i
- Previous symbols
- MECL1
- MANE Select transcript
- ENST00000358514.9NM_002801.4
- 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
Broader groupings
Other Inborn Errors of Immunity
- Immunodeficiency Disease
One of 170 genes linked to it
Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD
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 PSMB10 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 2.3 kb; 822 of those bases code for the protein.
How a genome test reads PSMB10
2
positions in PSMB10 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 2.3 kb of PSMB10, introns included, not only the 1 kb of exons.
Genes linked to the same conditions
- POMPproteasome maturation proteinShares 2 conditions
- PSMB8proteasome 20S subunit beta 8Shares 2 conditions
- PSMB9proteasome 20S subunit beta 9Shares 2 conditions
- ACP5acid phosphatase 5, tartrate resistantShares 1 condition
- ADAadenosine deaminaseShares 1 condition
- ADA2adenosine deaminase 2Shares 1 condition
- ADARadenosine deaminase RNA specificShares 1 condition
- AICDAactivation induced cytidine deaminaseShares 1 condition
- AK2adenylate kinase 2Shares 1 condition
- ARPC1Bactin related protein 2/3 complex subunit 1BShares 1 condition
- ARPC5actin related protein 2/3 complex subunit 5Shares 1 condition
- ATMATM serine/threonine kinaseShares 1 condition
Traits linked to PSMB10
The Human Phenotype Ontology lists these as features of the rare conditions PSMB10 can cause. Each trait's page lists the other genes linked to it.
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.
- 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.). PSMB10 gene: proteasome 20S subunit beta 10. Retrieved 17 October 2026, from https://dantelabs.com/genes/psmb10
Dante Labs. PSMB10 gene: proteasome 20S subunit beta 10 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/psmb10
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