PSMD12

Chr 17q24.2

proteasome 26S subunit, non-ATPase 12

Aliases:: p55, Rpn5
MANE:: ENST00000356126.8

OMIM: 604450 ↗NCBI: 5718 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PSMD12 · O00232

v62025-08-01

Predicted Aligned Error matrix for PSMD12 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.9/ 100

Confident

456 residues

Confidence breakdown

Very high(≥ 90)6%
Confident(70–90)84%
Low(50–70)5%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Stankiewicz-Isidor syndrome
0.71
plasma cell myeloma
0.60
mantle cell lymphoma
0.54
hereditary disease
0.49
neoplasm
0.49
amyloidosis
0.47
HIV infectious disease
0.46
neurodegenerative disease
0.39
AL amyloidosis
0.37
complex neurodevelopmental disorder
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

26S proteasome non-ATPase regulatory subunit 12

Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair