Identity
HGNC
LOCATION
18p11.21
LOCUSID
ALIAS
OPA12,SCA28,SPAX5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10939
MIM: 604581
HGNC: 315
Ensembl: ENSG00000141385
Variants:
dbSNP: 10939
ClinVar: 10939
TCGA: ENSG00000141385
COSMIC: AFG3L2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000141385 | ENST00000269143 | Q9Y4W6 |
| ENSG00000141385 | ENST00000590811 | K7EP56 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38157846 | 2024 | Dual regulation of SLC25A39 by AFG3L2 and iron controls mitochondrial glutathione homeostasis. | 3 |
| 38157846 | 2024 | Dual regulation of SLC25A39 by AFG3L2 and iron controls mitochondrial glutathione homeostasis. | 3 |
| 36447112 | 2023 | AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients. | 1 |
| 37917749 | 2023 | Autoregulatory control of mitochondrial glutathione homeostasis. | 9 |
| 36447112 | 2023 | AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients. | 1 |
| 37917749 | 2023 | Autoregulatory control of mitochondrial glutathione homeostasis. | 9 |
| 34333379 | 2021 | Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia. | 5 |
| 34333379 | 2021 | Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia. | 5 |
| 32219868 | 2020 | ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. | 20 |
| 32248051 | 2020 | Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation. | 3 |
| 32600459 | 2020 | A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy. | 8 |
| 33075064 | 2020 | Inactivation of the mitochondrial protease Afg3l2 results in severely diminished respiratory chain activity and widespread defects in mitochondrial gene expression. | 7 |
| 32219868 | 2020 | ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. | 20 |
| 32248051 | 2020 | Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation. | 3 |
| 32600459 | 2020 | A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy. | 8 |
Citation
Dessen P
AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56528/afg3l2-(afg3-like-matrix-aaa-peptidase-subunit-2)
