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AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)

Identity

Alias (NCBI)OPA12
SCA28
SPAX5
HGNC (Hugo) AFG3L2
HGNC Alias symbSPAX5
HGNC Previous nameSCA28
HGNC Previous nameAFG3 (ATPase family gene 3, yeast)-like 2
 spinocerebellar ataxia 28
 AFG3 ATPase family member 3-like 2 (S. cerevisiae)
 AFG3 like AAA ATPase 2
LocusID (NCBI) 10939
Atlas_Id 56528
Location 18p11.21  [Link to chromosome band 18p11]
Location_base_pair Starts at 12328944 and ends at 12377227 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AFG3L2 (18p11.21) / SPIRE1 (18p11.21)AFG3L2 (18p11.21) / TIAM1 (21q22.11)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)AFG3L2   315
LRG (Locus Reference Genomic)LRG_666
Cards
Entrez_Gene (NCBI)AFG3L2    AFG3 like matrix AAA peptidase subunit 2
AliasesOPA12; SCA28; SPAX5
GeneCards (Weizmann)AFG3L2
Ensembl hg19 (Hinxton)ENSG00000141385 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141385 [Gene_View]  ENSG00000141385 [Sequence]  chr18:12328944-12377227 [Contig_View]  AFG3L2 [Vega]
ICGC DataPortalENSG00000141385
TCGA cBioPortalAFG3L2
AceView (NCBI)AFG3L2
Genatlas (Paris)AFG3L2
SOURCE (Princeton)AFG3L2
Genetics Home Reference (NIH)AFG3L2
Genomic and cartography
GoldenPath hg38 (UCSC)AFG3L2  -     chr18:12328944-12377227 -  18p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AFG3L2  -     18p11.21   [Description]    (hg19-Feb_2009)
GoldenPathAFG3L2 - 18p11.21 [CytoView hg19]  AFG3L2 - 18p11.21 [CytoView hg38]
ImmunoBaseENSG00000141385
Genome Data Viewer NCBIAFG3L2 [Mapview hg19]  
OMIM604581   610246   614487   618977   
Gene and transcription
Genbank (Entrez)AK129504 BC024282 BC065016 BU786821 BX091241
RefSeq transcript (Entrez)NM_006796
Consensus coding sequences : CCDS (NCBI)AFG3L2
Gene ExpressionAFG3L2 [ NCBI-GEO ]   AFG3L2 [ EBI - ARRAY_EXPRESS ]   AFG3L2 [ SEEK ]   AFG3L2 [ MEM ]
Gene Expression Viewer (FireBrowse)AFG3L2 [ Firebrowse - Broad ]
GenevisibleExpression of AFG3L2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10939
GTEX Portal (Tissue expression)AFG3L2
Human Protein AtlasENSG00000141385-AFG3L2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y4W6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y4W6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y4W6
PhosPhoSitePlusQ9Y4W6
Domaine pattern : Prosite (Expaxy)AAA (PS00674)   
Domains : Interpro (EBI)AAA+_ATPase    AAA_lid_3    ATPase_AAA_core    ATPase_AAA_CS    FtsH    P-loop_NTPase    Pept_M41_FtsH_extracell    Peptidase_M41    Peptidase_M41-like   
Domain families : Pfam (Sanger)AAA (PF00004)    AAA_lid_3 (PF17862)    FtsH_ext (PF06480)    Peptidase_M41 (PF01434)   
Domain families : Pfam (NCBI)pfam00004    pfam17862    pfam06480    pfam01434   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)AFG3L2
PDB (RSDB)2LNA    6NYY   
PDB Europe2LNA    6NYY   
PDB (PDBSum)2LNA    6NYY   
PDB (IMB)2LNA    6NYY   
Structural Biology KnowledgeBase2LNA    6NYY   
SCOP (Structural Classification of Proteins)2LNA    6NYY   
CATH (Classification of proteins structures)2LNA    6NYY   
SuperfamilyQ9Y4W6
AlphaFold pdb e-kbQ9Y4W6   
Human Protein Atlas [tissue]ENSG00000141385-AFG3L2 [tissue]
HPRD05205
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4W6
IntAct (EBI)Q9Y4W6
BioGRIDAFG3L2
STRING (EMBL)AFG3L2
ZODIACAFG3L2
Ontologies - Pathways
QuickGOQ9Y4W6
Ontology : AmiGOATP-dependent peptidase activity  metalloendopeptidase activity  protein binding  ATP binding  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial inner membrane  m-AAA complex  proteolysis  mitochondrial calcium ion transmembrane transport  axonogenesis  neuromuscular junction development  mitochondrial fusion  metallopeptidase activity  zinc ion binding  protein processing  protein autoprocessing  nerve development  membrane protein proteolysis  mitochondrial protein processing  calcium import into the mitochondrion  regulation of multicellular organism growth  cristae formation  myelination  unfolded protein binding  mitochondrial calcium ion homeostasis  muscle cell development  righting reflex  protein-containing complex assembly  
Ontology : EGO-EBIATP-dependent peptidase activity  metalloendopeptidase activity  protein binding  ATP binding  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial inner membrane  m-AAA complex  proteolysis  mitochondrial calcium ion transmembrane transport  axonogenesis  neuromuscular junction development  mitochondrial fusion  metallopeptidase activity  zinc ion binding  protein processing  protein autoprocessing  nerve development  membrane protein proteolysis  mitochondrial protein processing  calcium import into the mitochondrion  regulation of multicellular organism growth  cristae formation  myelination  unfolded protein binding  mitochondrial calcium ion homeostasis  muscle cell development  righting reflex  protein-containing complex assembly  
NDEx NetworkAFG3L2
Atlas of Cancer Signalling NetworkAFG3L2
Wikipedia pathwaysAFG3L2
Orthology - Evolution
OrthoDB10939
GeneTree (enSembl)ENSG00000141385
Phylogenetic Trees/Animal Genes : TreeFamAFG3L2
Homologs : HomoloGeneAFG3L2
Homology/Alignments : Family Browser (UCSC)AFG3L2
Gene fusions - Rearrangements
Fusion : QuiverAFG3L2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAFG3L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AFG3L2
dbVarAFG3L2
ClinVarAFG3L2
MonarchAFG3L2
1000_GenomesAFG3L2 
Exome Variant ServerAFG3L2
GNOMAD BrowserENSG00000141385
Varsome BrowserAFG3L2
ACMGAFG3L2 variants
VarityQ9Y4W6
Genomic Variants (DGV)AFG3L2 [DGVbeta]
DECIPHERAFG3L2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAFG3L2 
Mutations
ICGC Data PortalAFG3L2 
TCGA Data PortalAFG3L2 
Broad Tumor PortalAFG3L2
OASIS PortalAFG3L2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAFG3L2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAFG3L2
Mutations and Diseases : HGMDAFG3L2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAFG3L2
DgiDB (Drug Gene Interaction Database)AFG3L2
DoCM (Curated mutations)AFG3L2
CIViC (Clinical Interpretations of Variants in Cancer)AFG3L2
Cancer3DAFG3L2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604581    610246    614487    618977   
Orphanet21449    14820   
DisGeNETAFG3L2
MedgenAFG3L2
Genetic Testing Registry AFG3L2
NextProtQ9Y4W6 [Medical]
GENETestsAFG3L2
Target ValidationAFG3L2
Huge Navigator AFG3L2 [HugePedia]
ClinGenAFG3L2
Clinical trials, drugs, therapy
MyCancerGenomeAFG3L2
Protein Interactions : CTDAFG3L2
Pharm GKB GenePA24612
PharosQ9Y4W6
Clinical trialAFG3L2
Miscellaneous
canSAR (ICR)AFG3L2
HarmonizomeAFG3L2
DataMed IndexAFG3L2
Probes
Litterature
PubMed106 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAFG3L2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 14:58:46 CEST 2021

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