Property Summary

NCBI Gene PubMed Count 24
PubMed Score 36.37
PubTator Score 30.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
malignant mesothelioma 1.200 2.4e-06
astrocytic glioma -1.200 4.2e-02
oligodendroglioma 1.200 1.0e-03
interstitial cystitis -1.100 4.9e-04
ulcerative colitis -1.200 6.2e-06
ovarian cancer -1.400 5.5e-06

Gene RIF (15)

PMID Text
25927548 AOA2 with myoclonus associated with mutations in SETX and AFG3L2
25420100 This study that AFG3L2 mutations are another important cause, albeit rare, of a late-onset ataxic PEO phenotype due to a disturbance of mtDNA maintenance.
25251419 Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies.
24814845 Identification of a partial AFG3L2 deletion and subsequent functional studies reveal loss of function as the most likely disease mechanism.
24422629 StAR proteolysis is executed by at least 2 mitochondrial proteases, the matrix LON protease and the inner membrane complexes of the metalloproteases AFG3L2 and AFG3L2:SPG7/paraplegin.
24293060 Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia and a positive family history.
22252130 Both full-length and truncated COX1 proteins physically interact with AFG3L2.
22022284 These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias.
21827917 The mutations of SCA28 are associated with amino acid changes in evolutionarily conserved residues of the alleged SCA28 gene, and indicate SCA28 as the sixth recognized SCA genotype caused by point mutations.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20725928 We further confirm both the involvement of AFG3L2 gene in Spinocerebellar ataxia type 28 (SCA28) and the presence of a mutational hotspot in exons 15-16.
20354562 in spinocerebellar ataxia type 28 patients study found novel missense mutation at an evolutionarily conserved amino-acid position; amino-acid exchange p.E700K was detected in a 4-generation family and was not observed in chromosomes of controls
20208537 work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegeneration.
19748354 An intersubunit signaling network coordinates ATP hydrolysis by m-AAA protease AGG3L2.
18854154 Knockdown of AFG3 ATPase family gene 3-like 2 (AFG3L2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1

AA Sequence

MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIAAYQRFCSRPP      1 - 70
KGFEKYFPNGKNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGGKKDDSHWWSRFQKGDIPWDD     71 - 140
KDFRMFFLWTALFWGGVMFYLLLKRSGREITWKDFVNNYLSKGVVDRLEVVNKRFVRVTFTPGKTPVDGQ    141 - 210
YVWFNIGSVDTFERNLETLQQELGIEGENRVPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGR    211 - 280
TGRGMGGLFSVGETTAKVLKDEIDVKFKDVAGCEEAKLEIMEFVNFLKNPKQYQDLGAKIPKGAILTGPP    281 - 350
GTGKTLLAKATAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNAPCILFIDEIDAVGRKRGRGN    351 - 420
FGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDIKGRASIFKVH    421 - 490
LRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSINQKHFEQAIERVIGGLEKKT    491 - 560
QVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRGKGLGYAQYLPKEQYLYTKEQLLDRMCMTLG    561 - 630
GRVSEEIFFGRITTGAQDDLRKVTQSAYAQIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDE    631 - 700
VRILINDAYKRTVALLTEKKADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDT    701 - 770
SLPEGLKDWNKEREKEKEEPPGEKVAN                                               771 - 797
//

Text Mined References (28)

PMID Year Title
27642048 2016 The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria.
27499296 2016 Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
26677414 2015 Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25927548 2015 An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
25420100 2015 Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.
25251419 2014 Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies.
24814845 2014 Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.
24422629 2014 StAR enhances transcription of genes encoding the mitochondrial proteases involved in its own degradation.
24293060 2014 A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
22252130 2012 Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly.
22022284 2011 Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
21827917 2012 Spinocerebellar ataxia type 28.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ?1.5% of European autosomal dominant cerebellar ataxias.
20354562 2010 Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
20208537 2010 Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
19748354 2009 An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases.
18769991 2008 Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17101804 2007 Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia.
16251216 2006 SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14623864 2003 Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10395799 1999 Identification and characterization of AFG3L2, a novel paraplegin-related gene.