Gene

psmd12

ID

ZDB-GENE-030131-617

Name

proteasome 26S subunit, non-ATPase 12

Symbol

psmd12 Nomenclature History

Previous Names

fc34f08
wu:fb38a06
wu:fc34f08
wu:fc49f02

Type

protein_coding_gene

Location

Chr: 6 Mapping Details/Browsers

Description

Involved in brain development; cranial skeletal system development; and kidney development. Predicted to localize to cytoplasm; nuclear proteasome complex; and proteasome regulatory particle, lid subcomplex. Orthologous to human PSMD12 (proteasome 26S subunit, non-ATPase 12).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:6909507 (1 image)
IMAGE:7142988 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Küry et al., 2017
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With psmd12 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Stankiewicz-Isidor syndrome	617516

Associated With psmd12 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000717	Proteasome component (PCI) domain
Domain	IPR040896	26S proteasome regulatory subunit RPN5, C-terminal domain
Family	IPR040134	26S Proteasome non-ATPase regulatory subunit 12/COP9 signalosome complex subunit 4
Homologous_superfamily	IPR036388	Winged helix-like DNA-binding domain superfamily
Homologous_superfamily	IPR036390	Winged helix DNA-binding domain superfamily