PSMG2

protein-coding

proteasome assembly chaperone 2

Gene summary

Enables molecular adaptor activity. Involved in chaperone-mediated protein complex assembly and proteasome core complex assembly. Located in nucleus. Part of protein folding chaperone complex. Implicated in proteosome-associated autoinflammatory syndrome 4. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

TNFSF5IP1

MANE transcript

NM_020232.5

Inheritance

ClinVar variants

P:1U:150B:50

Top phenotype

Proteasome-associated autoinflammatory syndrome 4

gnomAD constraint

pLI —, LoF o/e 0.87

Max pathogenic AF

—

Genomic locus

chr18:12,658,043-12,728,945

External References & Databases

Ensembl (ENSG00000128789)

Transcript & Mutation Effects

hg38 • Region Span ~70.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

proteasome-associated autoinflammatory syndrome 4LIMITED

Inheritance Pattern: Unknown

Disease ID:MONDO:0030931

Submitter: Labcorp Genetics (formerly Invitae)

proteasome-associated autoinflammatory syndrome 4LIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0030931

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Proteasome-associated autoinflammatory syndrome 4AR

Manifestation: Allergy/Immunology/Infectious; Neurologic

Intervention: Allergy/Immunology/Infectious

Rationale: The condition involves autoinflammatory manifestations, and medical management (eg, with JAK inhibitors) has been described as resulting in clinical improvement

Refs: 30664889

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PSMG2 variants in ClinVar

4 Conditions Cataloged

not providedTotal: 220

not specifiedTotal: 52

Proteasome-associated autoinflammatory syndrome 4Total: 6

PSMG2-related disorderTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020232.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	41 clinvar		43
missense			124 clinvar	8 clinvar	1 clinvar	133
nonsense			5 clinvar			5
start loss			1 clinvar			1
frameshift	1 clinvar		8 clinvar			9
splice donor/acceptor (+/-2bp)			10 clinvar			10
Total	1	0	150	49	1	201

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020232.5	RefSeq	NP_064617.2	7	MANE Select
ENST00000317615.11	Ensembl	ENSP00000325919.6	7	MANE Select
NM_147163.2	RefSeq	NP_671692.1	6	Standard
ENST00000585331.6	Ensembl	ENSP00000476763.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

mitotic spindle assembly checkpoint
negative regulation of apoptotic process
proteasome assembly

Molecular Function

protein binding

Cellular Component

nucleus
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000317615
Coding exons: 7
Length: 67003
Individuals with no LoFs: 125716
Homozygous LoFs: 0
Heterozygous LoFs: 32
Defined: 125748
p: 0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.442	127	142	0.896	0.00000742	1706
Missense (PolyPhen)		31	34.939	0.88726		451
Synonymous	-0.616	54	48.5	1.11	0.00000242	514
Loss of Function	0.413	11	12.6	0.874	5.29e-7	172

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00026	0.00026	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00017	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.00013	0.00013	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization. {ECO:0000269|PubMed:16251969, ECO:0000269|PubMed:17707236}.;

Recessive Scores

pRec: 0.110

Intolerance Scores

LoFtool: 0.300
RVIS EVS: 0.46
RVIS percentile EVS: 78.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: N
Indispensability score: 0.469

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium