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AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)

Identity

Alias_namesSCA28
AFG3 (ATPase family gene 3, yeast)-like 2
spinocerebellar ataxia 28
AFG3 ATPase family member 3-like 2 (S. cerevisiae)
AFG3 like AAA ATPase 2
Alias_symbol (synonym)SPAX5
Other alias
HGNC (Hugo) AFG3L2
LocusID (NCBI) 10939
Atlas_Id 56528
Location 18p11.21  [Link to chromosome band 18p11]
Location_base_pair Starts at 12328944 and ends at 12377276 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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  10939  AFG3 like matrix AAA peptidase subunit 2
AliasesSCA28; SPAX5
GeneCards (Weizmann)AFG3L2
Ensembl hg19 (Hinxton)ENSG00000141385 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141385 [Gene_View]  chr18:12328944-12377276 [Contig_View]  AFG3L2 [Vega]
ICGC DataPortalENSG00000141385
TCGA cBioPortalAFG3L2
AceView (NCBI)AFG3L2
Genatlas (Paris)AFG3L2
WikiGenes10939
SOURCE (Princeton)AFG3L2
Genetics Home Reference (NIH)AFG3L2
Genomic and cartography
GoldenPath hg38 (UCSC)AFG3L2  -     chr18:12328944-12377276 -  18p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AFG3L2  -     18p11.21   [Description]    (hg19-Feb_2009)
EnsemblAFG3L2 - 18p11.21 [CytoView hg19]  AFG3L2 - 18p11.21 [CytoView hg38]
Mapping of homologs : NCBIAFG3L2 [Mapview hg19]  AFG3L2 [Mapview hg38]
OMIM604581   610246   614487   
Gene and transcription
Genbank (Entrez)AK129504 BC024282 BC065016 BU786821 BX091241
RefSeq transcript (Entrez)NM_006796
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AFG3L2
Cluster EST : UnigeneHs.726355 [ NCBI ]
CGAP (NCI)Hs.726355
Alternative Splicing GalleryENSG00000141385
Gene ExpressionAFG3L2 [ NCBI-GEO ]   AFG3L2 [ EBI - ARRAY_EXPRESS ]   AFG3L2 [ SEEK ]   AFG3L2 [ MEM ]
Gene Expression Viewer (FireBrowse)AFG3L2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10939
GTEX Portal (Tissue expression)AFG3L2
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
Splice isoforms : SwissVarQ9Y4W6
PhosPhoSitePlusQ9Y4W6
Domaine pattern : Prosite (Expaxy)AAA (PS00674)   
Domains : Interpro (EBI)AAA+_ATPase    ATPase_AAA_core    ATPase_AAA_CS    FtsH    P-loop_NTPase    Pept_M41_FtsH_extracell    Peptidase_M41   
Domain families : Pfam (Sanger)AAA (PF00004)    FtsH_ext (PF06480)    Peptidase_M41 (PF01434)   
Domain families : Pfam (NCBI)pfam00004    pfam06480    pfam01434   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)AFG3L2
DMDM Disease mutations10939
Blocks (Seattle)AFG3L2
PDB (SRS)2LNA   
PDB (PDBSum)2LNA   
PDB (IMB)2LNA   
PDB (RSDB)2LNA   
Structural Biology KnowledgeBase2LNA   
SCOP (Structural Classification of Proteins)2LNA   
CATH (Classification of proteins structures)2LNA   
SuperfamilyQ9Y4W6
Human Protein AtlasENSG00000141385
Peptide AtlasQ9Y4W6
HPRD05205
IPIIPI00001091   IPI01015191   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4W6
IntAct (EBI)Q9Y4W6
FunCoupENSG00000141385
BioGRIDAFG3L2
STRING (EMBL)AFG3L2
ZODIACAFG3L2
Ontologies - Pathways
QuickGOQ9Y4W6
Ontology : AmiGOmetalloendopeptidase activity  protein binding  ATP binding  mitochondrion  m-AAA complex  proteolysis  axonogenesis  neuromuscular junction development  mitochondrial fusion  metallopeptidase activity  zinc ion binding  nerve development  mitochondrial protein processing  mitochondrial calcium uptake  regulation of multicellular organism growth  cristae formation  myelination  muscle fiber development  unfolded protein binding  mitochondrial calcium ion homeostasis  righting reflex  
Ontology : EGO-EBImetalloendopeptidase activity  protein binding  ATP binding  mitochondrion  m-AAA complex  proteolysis  axonogenesis  neuromuscular junction development  mitochondrial fusion  metallopeptidase activity  zinc ion binding  nerve development  mitochondrial protein processing  mitochondrial calcium uptake  regulation of multicellular organism growth  cristae formation  myelination  muscle fiber development  unfolded protein binding  mitochondrial calcium ion homeostasis  righting reflex  
NDEx NetworkAFG3L2
Atlas of Cancer Signalling NetworkAFG3L2
Wikipedia pathwaysAFG3L2
Orthology - Evolution
OrthoDB10939
GeneTree (enSembl)ENSG00000141385
Phylogenetic Trees/Animal Genes : TreeFamAFG3L2
HOVERGENQ9Y4W6
HOGENOMQ9Y4W6
Homologs : HomoloGeneAFG3L2
Homology/Alignments : Family Browser (UCSC)AFG3L2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAFG3L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AFG3L2
dbVarAFG3L2
ClinVarAFG3L2
1000_GenomesAFG3L2 
Exome Variant ServerAFG3L2
ExAC (Exome Aggregation Consortium)AFG3L2 (select the gene name)
Genetic variants : HAPMAP10939
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]  
Mutations and Diseases : HGMDAFG3L2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch AFG3L2
DgiDB (Drug Gene Interaction Database)AFG3L2
DoCM (Curated mutations)AFG3L2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AFG3L2 (select a term)
intoGenAFG3L2
Cancer3DAFG3L2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604581    610246    614487   
Orphanet21449    14820   
MedgenAFG3L2
Genetic Testing Registry AFG3L2
NextProtQ9Y4W6 [Medical]
TSGene10939
GENETestsAFG3L2
Huge Navigator AFG3L2 [HugePedia]
snp3D : Map Gene to Disease10939
BioCentury BCIQAFG3L2
ClinGenAFG3L2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10939
Chemical/Pharm GKB GenePA24612
Clinical trialAFG3L2
Miscellaneous
canSAR (ICR)AFG3L2 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAFG3L2
EVEXAFG3L2
GoPubMedAFG3L2
iHOPAFG3L2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:05:20 CEST 2017

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