PSME4 |
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)