AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)

2016-10-01  

Identity

HGNC
AFG3L2
LOCATION
18p11.21
LOCUSID
10939
ALIAS
OPA12,SCA28,SPAX5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10939
MIM: 604581
HGNC: 315
Ensembl: ENSG00000141385

Variants:

dbSNP: 10939
ClinVar: 10939
TCGA: ENSG00000141385
COSMIC: AFG3L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141385ENST00000269143Q9Y4W6
ENSG00000141385ENST00000590811K7EP56

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
202085372010Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.93
220222842011Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.70
197483542009An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases.48
222521302012Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly.32
207259282010Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.30
203545622010Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
242930602014A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.10
254201002015Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.10
295455052018m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics.10

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