AFG3L2

AFG3 ATPase family gene 3-like 2 (S. cerevisiae) is a protein that in humans is encoded by the AFG3L2 gene.[5]

AFG3L2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2LNA
Identifiers
Aliases	AFG3L2, SCA28, SPAX5, AFG3 like matrix AAA peptidase subunit 2
External IDs	OMIM: 604581 MGI: 1916847 HomoloGene: 4947 GeneCards: AFG3L2
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18p11.21 Start 12,328,944 bp[1] End 12,377,227 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 E1 Start 67,404,764 bp[2] End 67,449,172 bp[2]
Gene ontology Molecular function • nucleotide binding • unfolded protein binding • zinc ion binding • metal ion binding • peptidase activity • GO:0001948 protein binding • metalloendopeptidase activity • hydrolase activity • ATP binding • metallopeptidase activity Cellular component • integral component of membrane • membrane • mitochondrion • m-AAA complex • mitochondrial inner membrane Biological process • regulation of multicellular organism growth • mitochondrion organization • muscle fiber development • neuromuscular junction development • myelination • righting reflex • proteolysis • axonogenesis • mitochondrial calcium uptake • mitochondrial calcium ion homeostasis • mitochondrial fusion • nerve development • mitochondrial protein processing • cristae formation • mitochondrial calcium ion transmembrane transport • protein processing • protein autoprocessing Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	10939	69597
Ensembl	ENSG00000141385	ENSMUSG00000024527
UniProt	Q9Y4W6	Q8JZQ2
RefSeq (mRNA)	NM_006796	NM_027130
RefSeq (protein)	NP_006787	NP_081406
Location (UCSC)	Chr 18: 12.33 – 12.38 Mb	Chr 18: 67.4 – 67.45 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders [5] as well as spastic ataxia-neuropathy syndrome.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000141385 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024527 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: AFG3 ATPase family gene 3-like 2 (S. cerevisiae)". Retrieved 2011-12-30.
6. Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C (October 2011). "Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases". PLoS Genet. 7 (10): e1002325. doi:10.1371/journal.pgen.1002325. PMC 3192828. PMID 22022284.

External links

• Human AFG3L2 genome location and AFG3L2 gene details page in the UCSC Genome Browser.

Further reading

• Banfi, S.; Bassi, M. T.; Andolfi, G.; Marchitiello, A.; Zanotta, S.; Ballabio, A.; Casari, G.; Franco, B. (1999). "Identification and Characterization of AFG3L2, a Novel Paraplegin-Related Gene". Genomics. 59 (1): 51–58. doi:10.1006/geno.1999.5818. PMID 10395799.
• Cagnoli, C.; Mariotti, C.; Taroni, F.; Seri, M.; Brussino, A.; Michielotto, C.; Grisoli, M.; Di Bella, D.; Migone, N.; Gellera, C.; Di Donato, S.; Brusco, A. (2005). "SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2". Brain. 129 (Pt 1): 235–242. doi:10.1093/brain/awh651. PMID 16251216.
• Mariotti, C.; Brusco, A.; Bella, D.; Cagnoli, C.; Seri, M.; Gellera, C.; Donato, S.; Taroni, F. (2008). "Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis". The Cerebellum. 7 (2): 184–188. doi:10.1007/s12311-008-0053-9. PMID 18769991.
• Augustin, S.; Gerdes, F.; Lee, S.; Tsai, F. T. F.; Langer, T.; Tatsuta, T. (2009). "An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases". Molecular Cell. 35 (5): 574–585. doi:10.1016/j.molcel.2009.07.018. PMC 2744646. PMID 19748354.
• Di Bella, D.; Lazzaro, F.; Brusco, A.; Plumari, M.; Battaglia, G.; Pastore, A.; Finardi, A.; Cagnoli, C.; Tempia, F.; Frontali, M.; Veneziano, L.; Sacco, T.; Boda, E.; Brussino, A.; Bonn, F.; Castellotti, B.; Baratta, S.; Mariotti, C.; Gellera, C.; Fracasso, V.; Magri, S.; Langer, T.; Plevani, P.; Di Donato, S.; Muzi-Falconi, M.; Taroni, F. (2010). "Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28". Nature Genetics. 42 (4): 313–321. doi:10.1038/ng.544. PMID 20208537.
• Edener, U.; Wöllner, J.; Hehr, U.; Kohl, Z.; Schilling, S.; Kreuz, F.; Bauer, P.; Bernard, V.; Gillessen-Kaesbach, G.; Zühlke, C. (2010). "Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation". European Journal of Human Genetics. 18 (8): 965–968. doi:10.1038/ejhg.2010.40. PMC 2987378. PMID 20354562.
• Cagnoli, C.; Stevanin, G.; Brussino, A.; Barberis, M.; Mancini, C.; Margolis, R. L.; Holmes, S. E.; Nobili, M.; Forlani, S.; Padovan, S.; Pappi, P.; Zaros, C. C.; Leber, I.; Ribai, P.; Pugliese, L.; Assalto, C.; Brice, A.; Migone, N.; Dürr, A.; Brusco, A. (2010). "Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias". Human Mutation. 31 (10): 1117–1124. doi:10.1002/humu.21342. PMID 20725928.