PSMA8

proteasome 20S subunit alpha 8, the group of Proteasome

Basic information

Region (hg38): 18:26133852-26193355

Links

ENSG00000154611 ∙ NCBI:143471 ∙ OMIM:617841 ∙ HGNC:22985 ∙ Uniprot:Q8TAA3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PSMA8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PSMA8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			17	1		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	1	0

Variants in PSMA8

This is a list of pathogenic ClinVar variants found in the PSMA8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
18-26133984-A-T		not specified	Uncertain significance (Sep 07, 2022)
18-26134044-G-A		not specified	Uncertain significance (Feb 15, 2023)
18-26134055-A-C		not specified	Uncertain significance (Oct 10, 2023)
18-26134066-C-T		not specified	Uncertain significance (Dec 28, 2023)
18-26144582-A-G		not specified	Uncertain significance (Apr 26, 2024)
18-26144583-G-C		not specified	Uncertain significance (Feb 06, 2023)
18-26144626-A-G		not specified	Uncertain significance (Jul 25, 2023)
18-26144659-A-G		not specified	Uncertain significance (Dec 06, 2022)
18-26144679-T-G		not specified	Uncertain significance (Jun 17, 2024)
18-26151854-A-G		not specified	Likely benign (Oct 04, 2022)
18-26151896-C-T		not specified	Uncertain significance (Oct 10, 2023)
18-26151897-G-C		not specified	Uncertain significance (Sep 16, 2021)
18-26151903-A-G		not specified	Uncertain significance (Oct 17, 2023)
18-26151918-A-G		not specified	Uncertain significance (Jun 28, 2023)
18-26158233-C-G		not specified	Uncertain significance (Dec 19, 2022)
18-26178846-G-A		not specified	Uncertain significance (Apr 07, 2023)
18-26178921-T-C		not specified	Uncertain significance (Sep 14, 2022)
18-26178933-T-G		not specified	Uncertain significance (Aug 02, 2023)
18-26179117-A-G		not specified	Uncertain significance (Nov 08, 2022)
18-26192332-A-G		not specified	Uncertain significance (Aug 19, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PSMA8	protein_coding	protein_coding	ENST00000308268	7	59504

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000550	0.892	125716	0	32	125748	0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.368	126	138	0.912	0.00000721	1654
Missense in Polyphen		70	74.17	0.94378		876
Synonymous	-0.122	48	46.9	1.02	0.00000253	494
Loss of Function	1.49	9	15.3	0.588	0.00000103	161

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000617	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.000178	0.000176
Middle Eastern	0.000326	0.000326
South Asian	0.000166	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the spermatoproteasome, a form of the proteasome specifically found in testis that promotes degradation of histones, thereby participating actively to the exchange of histones during spermatogenesis. The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH (By similarity). {ECO:0000250}.
• Pathway: Proteasome - Homo sapiens (human);Post-translational protein modification;Metabolism of proteins;UCH proteinases;Neddylation;Ub-specific processing proteases;Deubiquitination (Consensus)

Recessive Scores

• pRec: 0.142

Intolerance Scores

• loftool: 0.630
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• pHI: 0.0625
• hipred: N
• hipred_score: 0.487
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.798

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Psma8

Gene ontology

• Biological process: proteasomal protein catabolic process;proteasomal ubiquitin-independent protein catabolic process;protein deubiquitination;proteasome-mediated ubiquitin-dependent protein catabolic process;post-translational protein modification
• Cellular component: nucleus;cytoplasm;cytosol;proteasome core complex;proteasome core complex, alpha-subunit complex;extracellular exosome;spermatoproteasome complex
• Molecular function: endopeptidase activity;threonine-type endopeptidase activity