AFG3L2

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, OPA12
External IDs	OMIM: 604581; MGI: 1916847; HomoloGene: 4947; GeneCards: AFG3L2; OMA:AFG3L2 - orthologs
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 67,537,834 bp [2] End 67,582,242 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 endothelial cell jejunal mucosa parietal pleura Skeletal muscle tissue of biceps brachii renal medulla gingival epithelium right ventricle germinal epithelium tibia Top expressed in interventricular septum muscle of thigh right kidney zygote proximal tubule myocardium of ventricle secondary oocyte gastrula otic vesicle skeletal muscle tissue More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding unfolded protein binding zinc ion binding metal ion binding peptidase activity 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 neuromuscular junction development myelination righting reflex proteolysis axonogenesis calcium import into the mitochondrion 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: 67.54 – 67.58 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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, et al. (October 2011). "Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases". PLOS Genetics. 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 MT, Andolfi G, Marchitiello A, Zanotta S, Ballabio A, et al. (July 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, et al. (January 2006). "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, Di Bella D, Cagnoli C, Seri M, Gellera C, et al. (2008). "Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis". Cerebellum. 7 (2): 184–188. doi:10.1007/s12311-008-0053-9. PMID   18769991. S2CID   8173189.
• Augustin S, Gerdes F, Lee S, Tsai FT, Langer T, Tatsuta T (September 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, et al. (April 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. S2CID   1703983.
• Edener U, Wöllner J, Hehr U, Kohl Z, Schilling S, Kreuz F, et al. (August 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 RL, et al. (October 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. S2CID   38251230.