Information on ATG4A
Basic details
Alt. symbols: AUTL2 | APG4A
Approved name: autophagy related 4A cysteine peptidase
Alt. names: AUT-like 2, cysteine endopeptidase (S. cerevisiae), APG4 autophagy 4 homolog A (S. cerevisiae), ATG4 autophagy related 4 homolog A (S. cerevisiae), autophagy related 4A, cysteine peptidase
Location: Xq22.3: 108091668 - 108154671 (+)
Gene type: protein_coding, 8 transcripts.
Scores: LoFtool: 0.545000 | pLI: 0.98888325 | LOEUF: 0.262
Normal function
Dysfunction and disease
Hait et al. described two adult patients with recurrent HSV2 lymphocytic Mollaret’s meningitis [156]. One patient was noted to have a rare monoallelic variant in the autophagy protein ATG4A and the second in the autophagy protein LC3B2 (PMID:33310865) [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
5793 |
ATG4A deficiency | AD |
- | 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 ATG4A
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 203 | ENST00000372232.8 | CCDS14538 | Select | protein_coding | 13 | Yes | 2205 | NM_001321287,NM_001321288,NM_001321290,NM_052936,NM_178271 | |
| 202 | ENST00000345734.7 | CCDS14539 | protein_coding | 12 | No | 2129 | NM_001321289,NM_178270 | ||
| 204 | ENST00000372246.7 | nonsense_mediated_decay | No | 2501 | XM_054326426 |
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. |
| - | Skewed X-linked inactivation | - | 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 ATG4A
| ID | Year | Title | Journal | PMID | Variants |
|---|