PSMA4

Chr 15

proteasome 20S subunit alpha 4

Also known as: HC9, HsT17706, PSC9

NCBI Gene: 5685 ENSG00000041357 UniProt: P25789 OMIM: 176846

This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in PSMA4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 450

194 rare PASS variants

Rare truncating (LoF)

1 in 4,400

34 rare PASS variants

Rare synonymous (reference)

1 in 1,300

92 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PSMA4. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 430	1 in 4,400
South Asian	~43k	1 in 700	≈ 1 in 20,000
Remaining (unassigned)	~30k	1 in 600	≈ 1 in 15,000
European (Finnish)	~27k	1 in 500	none seen
Admixed American	~22k	1 in 320	1 in 2,500
African / African American	~21k	1 in 530	≈ 1 in 8,900
East Asian	~20k	1 in 840	1 in 2,500
Ashkenazi Jewish	~13k	≈ 1 in 4,300	none seen
Middle Eastern	~2,884	≈ 1 in 960	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 8 coding exons well covered in gnomAD exomes and genomes.? see exons ↓