Information on SPPL2A
Basic details
Alt. symbols: IMP3 | PSL2
Approved name: signal peptide peptidase like 2A
Alt. names: intramembrane protease 3, presenilin-like protein 2
Location: 15q21.2: 50702266 - 50765948 (-)
Gene type: protein_coding, 18 transcripts.
Scores: LoFtool: 0.633000 | pLI: 0.04707793 | LOEUF: 0.526
Normal function
Dysfunction and disease
[Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
MSMD10 |
Mendelian susceptibility to mycobacterial disease 10 | AR |
619549 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of SPPL2A
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000261854.10 | CCDS10138 | Select | protein_coding | 15 | Yes | 7270 | NM_032802 | |
| 213 | ENST00000698135.1 | protein_coding | No | XM_017022680 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene 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 SPPL2A
| ID | Year | Title | Journal | PMID | Variants |
|---|