Gene Facts External Data Attribution

HGNC Symbol
PSME4 (HGNC:20635) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
proteasome activator subunit 4
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PA200, KIAA0077
%HI
15.07(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.18(Read more about gnomAD LOEUF score)
Cytoband
2p16.2
Genomic Coordinates
GRCh37/hg19: chr2:54091206-54198130 NCBI Ensembl UCSC
GRCh38/hg38: chr2:53864069-53970993 NCBI Ensembl UCSC
MANE Select Transcript
NM_014614.3 ENST00000404125.6 (Read more about MANE Select)
Function
Associated component of the proteasome that specifically recognizes acetylated histones and promotes ATP- and ubiquitin- independent degradation of core histones during spermatogenesis and DNA damage response. Recognizes and binds acetylated histones via its bromodomain-like (BRDL) region and activates the proteasome by opening the gated channel for substrate entry. Binds to the core proteasome via its C-terminus, which occupies the same binding sites as the proteasomal ATPases, opening the clos... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-8498
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)