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Gene

PSMB8

proteasome 20S subunit beta 8

Summary

Cytogenetic location
6p21.32
Coordinates
Chromosome 6: 32,840,717–32,844,047 (GRCh38)
Exons
6 exons across 3.3 kb
Protein
276 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
RING10, D6S216E, PSMB5i, beta5i
Previous symbols
LMP7
MANE Select transcript
ENST00000374882.8NM_148919.4
Locus type
gene with protein product

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.

      • 3 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).

      • 3 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 PSMB8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where PSMB8 sits. PSMB8 and 37 genes near it on chromosome 6, from 32,342,382 to 33,342,381.Chromosome 66p21.32p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2732.4 Mb32.6 Mb32.8 Mb33 Mb33.2 MbTSBP1: 32,288,526–32,371,907, reverse strandTSBP1BTNL2: 32,391,481–32,407,181, reverse strandBTNL2HLA-DRA: 32,439,870–32,445,181, forward strandHLA-DRAHLA-DRB5: 32,516,622–32,530,369, reverse strandHLA-DRB5HLA-DRB1: 32,577,902–32,589,848, reverse strandHLA-DRB1HLA-DQA1: 32,628,179–32,659,533, forward strandHLA-DQA1HLA-DQB1: 32,640,622–32,668,383, reverse strandHLA-DQB1HLA-DQA2: 32,741,391–32,747,198, forward strandHLA-DQA2HLA-DQB2: 32,756,094–32,763,563, reverse strandHLA-DQB2HLA-DOB: 32,812,763–32,820,466, reverse strand: 32,813,767–32,838,822, reverse strandTAP2: 32,821,833–32,838,802, reverse strandTAP2PSMB8: 32,840,717–32,844,047, reverse strandPSMB8PSMB9: 32,844,136–32,882,881, forward strandTAP1: 32,845,204–32,854,026, reverse strandTAP1HLA-DMB: 32,929,338–32,941,490, reverse strandHLA-DMB: 32,937,364–32,953,122, reverse strandHLA-DMA: 32,948,613–32,969,094, reverse strandHLA-DMABRD2: 32,968,564–32,981,505, forward strandBRD2HLA-DOA: 33,004,178–33,009,617, reverse strandHLA-DOAHLA-DPA1: 33,064,569–33,080,781, reverse strandHLA-DPA1HLA-DPB1: 33,073,786–33,091,655, forward strandHLA-DPB1COL11A2: 33,162,681–33,192,802, reverse strandCOL11A2RXRB: 33,193,585–33,200,693, reverse strandRXRBSLC39A7: 33,200,305–33,204,439, forward strandSLC39A7HSD17B8: 33,204,631–33,206,831, forward strandHSD17B8RING1: 33,208,033–33,212,722, forward strandVPS52: 33,250,272–33,272,047, reverse strandVPS52RPS18: 33,271,730–33,276,513, forward strandRPS18B3GALT4: 33,277,123–33,284,832, forward strandB3GALT4WDR46: 33,279,103–33,289,523, reverse strandWDR46PFDN6: 33,288,680–33,298,441, forward strandRGL2: 33,291,180–33,299,534, reverse strandTAPBP: 33,299,694–33,314,284, reverse strandZBTB22: 33,314,406–33,318,021, reverse strandDAXX: 33,318,558–33,323,259, reverse strand: 33,321,386–33,329,286, reverse strandSMIM40: 33,323,628–33,329,279, reverse strandDiagram of PSMB8: 6 exons on the reverse strand of chromosome 6Exon 5: 2 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 1: 5 known disease-causing sitesExon 6: 32,840,717–32,841,047, 331 basesExon 5: 32,841,531–32,841,735, 205 basesExon 4: 32,842,134–32,842,263, 130 basesExon 3: 32,842,672–32,842,783, 112 basesExon 2: 32,842,942–32,843,089, 148 basesExon 1: 32,843,850–32,844,047, 198 bases6543215′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 1.1 kb of the gene's 3.3 kb; 831 of those bases code for the protein.

How a genome test reads PSMB8

18

positions in PSMB8 where ClinVar classes a change as pathogenic or likely pathogenic

18 of them (100%) fall in regions short reads find hard.

  • MHC (18 sites)The major histocompatibility complex (HLA genes), highly polymorphic and poorly represented by a single reference.

A whole genome covers all 3.3 kb of PSMB8, introns included, not only the 1.1 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.). PSMB8 gene: proteasome 20S subunit beta 8. Retrieved 16 October 2026, from https://dantelabs.com/genes/psmb8

Vancouver

Dante Labs. PSMB8 gene: proteasome 20S subunit beta 8 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/psmb8

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