Information on PSMD12
Alt. symbols: p55 | Rpn5
Approved name: proteasome 26S subunit, non-ATPase 12
Alt. names: proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
Location: 17q24.2: 67337916 - 67366605 (-)
Gene type: protein_coding, 8 transcripts.
Scores: LoFtool: 0.157000 | pLI: 0.99726774 | LOEUF: 0.162
Gene Ontology (GO)
- Molecular function:
- Cell component: proteasome regulatory particle, lid subcomplex [GO:0008541]; cytoplasm [GO:0005737]; nuclear proteasome complex [GO:0031595]
- Biological process:
Normal function
Dysfunction and disease
Stankiewicz-Isidor syndrome [MIM:617516] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
STISS |
Stankiewicz-Isidor syndrome with or without autoinflammation | AD |
Haploinsufficiency | 617516 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of PSMD12
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000357146.4 | CCDS11670 | protein_coding | 10 | No | 2437 | NM_001316341,NM_174871 | ||
| 201 | ENST00000356126.8 | CCDS11669 | Select | protein_coding | 11 | Yes | 4356 | NM_002816 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in PSMD12
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|