• Gene id: 10939

Gene Summary

• Gene Symbol: AFG3L2   Gene   UCSC   Ensembl
• Aliases: SCA28, SPAX5
• Gene name: AFG3 like matrix AAA peptidase subunit 2
• Alternate names: AFG3-like protein 2, AFG3 ATPase family gene 3-like 2, AFG3 ATPase family member 3-like 2, AFG3 like AAA ATPase 2, ATPase family gene 3, yeast, paraplegin-like protein,
• Gene location: 18p11.21 (12377308: 12328943)     Exons: 17     NC_000018.10
• Gene summary(Entrez): 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 parapl
• OMIM: 604581

Protein Summary

• Protein general information: Q9Y4W6  
  • Name: AFG3 like protein 2 (EC 3.4.24. ) (Paraplegin like protein)
  • Length: 797  
  • Mass: 88584
  • Tissue specificity: Ubiquitous. Highly expressed in the cerebellar Purkinje cells. {ECO
• Sequence:

  MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIAAYQRFCSRPPKGFEK
  YFPNGKNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGGKKDDSHWWSRFQKGDIPWDDKDFRMFFLWT
  ALFWGGVMFYLLLKRSGREITWKDFVNNYLSKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERN
  LETLQQELGIEGENRVPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLK
  DEIDVKFKDVAGCEEAKLEIMEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKATAGEANVPFITVSGS
  EFLEMFVGVGPARVRDLFALARKNAPCILFIDEIDAVGRKRGRGNFGGQSEQENTLNQLLVEMDGFNTTTNVVIL
  AGTNRPDILDPALLRPGRFDRQIFIGPPDIKGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVC
  NEAALIAARHLSDSINQKHFEQAIERVIGGLEKKTQVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRG
  KGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFGRITTGAQDDLRKVTQSAYAQIVQFGMNEKVGQISF
  DLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKKADVEKVALLLLEKEVLDKNDMVELLGPRPF
  AEKSTYEEFVEGTGSLDEDTSLPEGLKDWNKEREKEKEEPPGEKVAN

• Structural information:
  • Interpro: IPR003593  IPR041569  IPR003959  IPR003960  IPR005936   IPR027417  IPR011546  IPR000642  IPR037219  
  • Prosite: PS00674
  • PDB: 2LNA 6NYY
  • PDBsum: 2LNA 6NYY
  • STRING: ENSP00000269143
• Other Databases: GeneCards:  AFG3L2  Malacards:  AFG3L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0065003	protein-containing complex assembly	IBA	biological process
GO:0042407	cristae formation	IBA	biological process
GO:0008053	mitochondrial fusion	IBA	biological process
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0034982	mitochondrial protein processing	IBA	biological process
GO:0051560	mitochondrial calcium ion homeostasis	IMP	biological process
GO:0006508	proteolysis	IMP	biological process
GO:0016540	protein autoprocessing	ISS	biological process
GO:0016485	protein processing	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0036444	calcium import into the mitochondrion	IMP	biological process
GO:0007409	axonogenesis	IMP	biological process
GO:0008237	metallopeptidase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0051082	unfolded protein binding	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0007409	axonogenesis	IEA	biological process
GO:0008053	mitochondrial fusion	IEA	biological process
GO:0021675	nerve development	IEA	biological process
GO:0042407	cristae formation	IEA	biological process
GO:0048747	muscle fiber development	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005745	m-AAA complex	IEA	cellular component
GO:0007005	mitochondrion organization	IEA	biological process
GO:0007528	neuromuscular junction development	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0016540	protein autoprocessing	IEA	biological process
GO:0034982	mitochondrial protein processing	IEA	biological process
GO:0040014	regulation of multicellular organism growth	IEA	biological process
GO:0042552	myelination	IEA	biological process
GO:0060013	righting reflex	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0033619	membrane protein proteolysis	IDA	biological process
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Spastic ataxia	KEGG:H01351
Spinocerebellar ataxia	KEGG:H00063
Spastic ataxia	KEGG:H01351
Spastic ataxia	PMID:22022284
Spinocerebellar ataxia type 28	PMID:24814845
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881