Version 5.4
Homo sapiens Gene: AFG3L2
Summary
InnateDB Gene IDBG-1118.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AFG3L2
Gene Name AFG3 ATPase family member 3-like 2 (S. cerevisiae)
Synonyms SCA28; SPAX5
Species Homo sapiens
Ensembl Gene ENSG00000141385
Encoded Proteins
IDBP-1120
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
IDBP-727469
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:12328944-12377314
Strand Reverse strand
Band p11.21
Transcripts
ENST00000269143 ENSP00000269143
ENST00000590811 ENSP00000467236
ENST00000588893
ENST00000591848
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
Experimentally validated
Total 23 [view]
Protein-Protein 23 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004222 metalloendopeptidase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008270 zinc ion binding
GO:0017111 nucleoside-triphosphatase activity
GO:0051082 unfolded protein binding
Biological Process
GO:0006508 proteolysis
GO:0007005 mitochondrion organization
GO:0007409 axonogenesis
GO:0007528 neuromuscular junction development
GO:0008053 mitochondrial fusion
GO:0008219 cell death
GO:0016265 death
GO:0021675 nerve development
GO:0034982 mitochondrial protein processing
GO:0040014 regulation of multicellular organism growth
GO:0042407 cristae formation
GO:0042552 myelination
GO:0048747 muscle fiber development
GO:0060013 righting reflex
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000024527
View Gene Order
ENSBTAG00000011250
Not yet available
Cross-References
SwissProt Q9Y4W6
TrEMBL D3DUJ0
UniProt Splice Variant
Entrez Gene 10939
UniGene Hs.627262 Hs.726355 Hs.732812
RefSeq NM_006796
HUGO HGNC:315
OMIM 604581
CCDS CCDS11859
HPRD 05205
IMGT
EMBL BC065016 CH471113 Y18314
GenPept AAH65016 CAB48398 EAX01551 EAX01552
RNA Seq Atlas 10939

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca