AFG3L2 information

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)
End	12,377,227 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	67,582,242 bp
RNA expression pattern
	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
	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
	10939
	69597
	ENSG00000141385
	ENSMUSG00000024527
	Q9Y4W6
	Q8JZQ2
	NM_006796
	NM_027130
	NP_006787
	NP_081406
	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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000141385 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024527 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: AFG3 ATPase family gene 3-like 2 (S. cerevisiae)". Retrieved 2011-12-30.
^ 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000141385 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: AFG3 ATPase family gene 3-like 2 (S. cerevisiae)". Retrieved 2011-12-30.

[pmid22022284-6] 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.

AFG3L2 information

and 4 Related for: AFG3L2 information

AFG3L2

AAA proteins

Paraplegin

List of OMIM disorder codes