Information on MAP1LC3B2
Basic details
Alt. symbols: ATG8G | LC3B2
Approved name: microtubule associated protein 1 light chain 3 beta 2
Alt. names: microtubuleassociated proteins 1A/1B light chain 3 beta 2 | Microtubuleassociated proteins 1A/1B light chain 3Blike protein
Location: 12q24.22: 116548105 - 116576606 (+)
Gene type: protein_coding, 4 transcripts.
Scores: LoFtool: 0.712000 | pLI: 0.02370569 | LOEUF: 1.678
Normal function
MAP1LC3B2 encodes an ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). It plays a role in mitophagy, which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. In response to cellular stress and upon mitochondria fission, it binds C-18 ceramides and anchors autophagolysosomes to outer mitochondrial membranes to eliminate damaged mitochondria. While LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation.
Dysfunction and disease
To date, only a monoallelic missense variant (p.L109M) has been reported in one single case as the cause of the patient's recurrent HSV2 meningitis. The mutant LC3B2 variant resulted in impaired autophagy induction (PMID: 33310865). [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2024-02-21 15:42:55]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
HSV2M |
HSV2 meningitis | 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 MAP1LC3B2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000556529.4 | CCDS41841 | Select | protein_coding | 2 | Yes | 818 | NM_001085481 |
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 MAP1LC3B2
| ID | Year | Title | Journal | PMID | Variants |
|---|