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AFG3L2 Gene

protein-coding   GIFtS: 59

GC18M012282
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
(Previous names: AFG3 (ATPase family gene 3, yeast)-like 2, spinocerebellar ataxia 28, AFG3 ATPase family gene 3-like 2 (yeast) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: SCA28)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)1 2     spinocerebellar ataxia 281
Paraplegin-like protein2 3     ATPase family gene 3, yeast2
SCA282 5     FLJ259932
AFG3 ATPase family gene 3-like 2 (yeast)1     AFG3-like protein 22
AFG3 (ATPase family gene 3, yeast)-like 21     EC 3.4.24.-3

External Ids:    HGNC: 3151   Entrez Gene: 109392   Ensembl: ENSG000001413857   UniProtKB: Q9Y4W63   

Export aliases for AFG3L2 gene to outside databases

Previous GC identifers: GC18P012541 GC18M012385 GC18M012319 GC18M012328


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AFG3L2:
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)

UniProtKB/Swiss-Prot: AFG32_HUMAN, Q9Y4W6
Function: ATP-dependent protease which is essential for axonal development (By similarity)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AFG3L2 gene promoter:
         RORalpha1   POU3F2 (N-Oct-5b)   POU3F2   POU3F2 (N-Oct-5a)   Bach1   GCNF-2   HSF2   GCNF-1   FOXJ2 (long isoform)   Meis-1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for AFG3L2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for AFG3L2 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18p11   Ensembl cytogenetic band:  18p11.21   HGNC cytogenetic band: 18p11.21

AFG3L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AFG3L2 gene location

GeneLoc gene densities for chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M012282:  view genomic region     (about GC identifiers)

Start:
12,282,720 bp from pter
End:
12,377,251 bp from pter
Size:
94,532 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000018.9  NT_010859.14  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: AFG32_HUMAN, Q9Y4W6 (See protein sequence)
Recommended Name: AFG3-like protein 2  
Size: 797 amino acids; 88584 Da
Cofactor: Binds 1 zinc ion per subunit (Potential)
Subunit: Homooligomer (By similarity)
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein
Secondary accessions: Q6P1L0

Explore the universe of human proteins at neXtProt for AFG3L2: NX_Q9Y4W6 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_006787.2  

    ENSEMBL proteins: 
    ENSP00000269143 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: AFG3L2
    GenScript Custom Purified and Recombinant Proteins Services for AFG3L2 
    Novus Biologicals Protein for AFG3L2
    Novus Biologicals Lysates for AFG3L2
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739 mitochondrion IDA18029348
    GO:0005743 mitochondrial inner membrane IEA--
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    AFG3L2 for ontologies           About GeneDecksing



    Antibodies for AFG3L2: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for AFG3L2
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for AFG3L2 
    Novus Biologicals Antibodies for AFG3L2
    Epitomics antibodies for AFG3L2

    Assays for AFG3L2: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AFG3L2 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    AFG3L2 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR003959 ATPase_AAA_core
     IPR005936 Pept_M41_FtsH
     IPR003960 ATPase_AAA_CS
     IPR000642 Peptidase_M41
     IPR003593 ATPase_AAA+_core

    Graphical View of Domain Structure for InterPro Entry Q9Y4W6

    ProtoNet protein and cluster: Q9Y4W6

    2 Blocks protein families:
    IPB000642 Peptidase M41
    IPB003960 AAA-protein subdomain


    UniProtKB/Swiss-Prot: AFG32_HUMAN, Q9Y4W6
    Similarity: In the N-terminal section; belongs to the AAA ATPase family
    Similarity: In the C-terminal section; belongs to the peptidase M41 family


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: AFG32_HUMAN, Q9Y4W6
    Function: ATP-dependent protease which is essential for axonal development (By similarity)
    Enzyme Number (IUBMB): EC 3.4.24.- 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for AFG3L2
    Sigma-Aldrich shRNA for AFG3L2
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): AFG3L2
    OriGene shRNA RFP (see all 2): AFG3L2
    OriGene basic RS shRNA (see all 2): AFG3L2
    OriGene siRNA: AFG3L2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of AFG3L2 
    miRNA:Sigma-Aldrich microRNA Mimics for AFG3L2
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of AFG3L2 
    Search SABiosciences for Assays for microRNAs that regulate AFG3L2

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: AFG3L2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: AFG3L2
    OriGene untagged cDNA clones in CMV expression vector: AFG3L2
    OriGene 3'-UTR clone: AFG3L2 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for AFG3L2 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for AFG3L2 

    Genatlas biochemistry entry for AFG3L2:
    ATPases yeast AFG3 and RCA1 gene homolog,family gene 3-like 2,paraplegin related gene,highly expressed in heart and
    skeletal muscle

    5/8 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 8):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0004222 metalloendopeptidase activity IEA--
    GO:0005524 ATP binding IEA--
    GO:0008233 peptidase activity IEA--
    GO:0008270 zinc ion binding IEA--
    About this table

    AFG3L2 for ontologies           About GeneDecksing

    Animal Models: 7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Afg3l2):

    behavior/neurologicalcellulargrowth/sizelethality-postnatalliver/biliary system
    musclenervous system

    AFG3L2 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    AFG3L2 for pathways           About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  AFG3L2
        Purine Metabolism

        SABiosciences Custom Pathway-Focused PCR Arrays for AFG3L2 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for AFG3L2
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AFG3L2

    5/236 Interacting proteins for AFG3L2 (Q9Y4W62) via UniProtKB, MINT, and/or STRING (see all 236)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    ACAD9Q9H8452MINT-8079030
    ACADVLP497482MINT-8079030
    ACOT9Q9Y3052MINT-8079030
    About this table

    5/11 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 11):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508 proteolysis IEA--
    GO:0007409 axonogenesis IEA--
    GO:0007528 neuromuscular junction development IEA--
    GO:0008219 cell death IEA--
    GO:0016265 death ----
    About this table

    AFG3L2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AFG3L2


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for AFG3L2
    Sigma-Aldrich shRNA for AFG3L2
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): AFG3L2
    OriGene shRNA RFP (see all 2): AFG3L2
    OriGene basic RS shRNA (see all 2): AFG3L2
    OriGene siRNA: AFG3L2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of AFG3L2 
    miRNA: Sigma-Aldrich microRNA Mimics for AFG3L2
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of AFG3L2 
    Search SABiosciences for Assays for microRNAs that regulate AFG3L2
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: AFG3L2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: AFG3L2
    OriGene untagged cDNA clones in CMV expression vector: AFG3L2
    OriGene 3'-UTR Clone: AFG3L2 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for AFG3L2 
    Primers: OriGene genome-wide validated SYBR primer pairs: AFG3L2
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for AFG3L2: PPH20623A

    REFSEQ mRNAs for AFG3L2 gene: 

    NM_006796.2  

    Additional cDNA sequence: 

    AK022220.1 AK124414.1 AK129504.1 BC024282.1 BC065016.1 CR597170.1 Y18314.1 

    11 DOTS entries:

    DT.100032341  DT.100820143  DT.453901  DT.100708063  DT.100820137  DT.91723171  DT.97855895  DT.95116344 
    DT.75103624  DT.95109528  DT.86852669 

    24/294 AceView cDNA sequences (see all 294):

    BC065016 AI889665 BX281738 BE384343 BU839293 AI613176 D16987 CB215056 
    CB529084 BQ188437 CK301097 BM699661 BC024282 BQ424149 BU192863 AK129504 
    BE765046 AW044550 BQ948787 BU844783 CF125012 CF454631 C05256 BM541550 

    highest scoring ESTs for AFG3L2:

    Y18314 AI262939 AI636269 AL539209 AL555390 AW195671 BC065016 BE906939 BF310869 BF431328 

    Unigene Cluster for AFG3L2:

    AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
    Hs.726355  [show with all ESTs]
    Unigene Representative Sequence: NM_006796


    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for AFG3L2

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b
    SP1:                                                                                                        -                           
    SP2:                                      -                                                                                             
    SP3:              -     -     -                                                                                                         
    SP4:                                                                                                        -     -                     
    SP5:                                                                                                                                    

    About this scheme

    ECgene alternative splicing isoforms for AFG3L2
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000269143(uc002kqz.1)

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    AFG3L2 expression in normal and diseased human tissues

    1  / 2  / 3

    4 probe-sets matching AFG3L2 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    34315_at2, 3 U95-A 1 0.81 1.00 1.00 1.00 Y18314 1.00 1.00 1.00 1
    202486_at2, 3 U133-A 1 1.00 1.00 -- -- NM_006796 0.60 1.00 0.82 1
    202486_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    1557820_at2 U133Plus2 1 0.36 1.00 -- -- -- -- -- -- --
    About this table

    AFG3L2 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    AFG3L2 gene expression
    AFG3L2 gene electronic northern expression
    AFG3L2 gene sage expression
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.726355

    Expression variation in blood from EXPOLDB for AFG3L2

    UniProtKB/Swiss-Prot: AFG32_HUMAN, Q9Y4W6
    Tissue specificity: Ubiquitous. Highly expressed in the cerebellar Purkinje cells

    Primers: OriGene genome-wide validated SYBR primer pairs: AFG3L2
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for AFG3L2: PPH20623A
        SABiosciences Custom PCR Arrays for AFG3L2 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for AFG3L2 gene from 5/27 species (see all 27)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    AFG3L21   -- AFG3 ATPase family gene 3-like 2 (yeast) 91.22(n)
    95.23(a)
    490560  XM_547682.2  XP_547682.2 
    chimpanzee
    (Pan troglodytes)
    AFG3L21   -- AFG3 ATPase family gene 3-like 2 (yeast) 99.58(n)
    99.62(a)
    455507  XM_512199.2  XP_512199.2 
    cow
    (Bos taurus)
    AFG3L21   -- AFG3 ATPase family gene 3-like 2 (yeast) 85.89(n)
    93.97(a)
    515757  NM_001046211.1  NP_001039676.1 
    rat
    (Rattus norvegicus)
    Afg3l21   -- AFG3(ATPase family gene 3)-like 2 (yeast) 86(n)
    93.46(a)
    307350  XM_225866.4  XP_225866.4 
    mouse
    (Mus musculus)
    Afg3l21 , 5 18 (39.96 cM)5
    AFG3(ATPase family gene 3)-like 2 (yeast)1, 5 84.99(n)1
    93.21(a)1
    695971  NM_027130.11  NP_081406.11 
     AK0096505  AK0801185  (see all 26)
    About this table        Species with no ortholog for AFG3L2

    ENSEMBL Gene Tree for AFG3L2 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for AFG3L2 gene
    SPG72  

    AFG3L2 for paralogs           About GeneDecksing


    Pseudogenes
    1 related pseudogene



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/16 NCBI SNPs in AFG3L2 are shown (see all 16)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 18 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs11291151,2
    C,F,A,12329536(-) AGTCTG/CTCCAC 1 -- ut31 ese316Minor allele frequency- C:0.31MN NS EA NA WA 1174
    rs110805721,2
    C,F,H,12351342(-) GCGCTA/GCTTAG 2 L ref1 syn112Minor allele frequency- G:0.36NS EA MN WA NA 720
    rs115535211,2
    C,12348285(-) ATTGAG/ACGAGT 2 /E syn1 ref17Minor allele frequency- A:0.28NA EA WA 218
    rs123273461,2
    C,12377177(+) AAAGGG/CCGCCA 1 -- ut51 ese31Minor allele frequency- C:0.50WA 2
    rs562139681,2
    C12344152(+) GCGTGC/TTCCAG 2 E syn1 ref10--------
    rs776204591,2
    C,12358754(+) CCTCCT/CCACAG 2 /E /G ref1 mis11Minor allele frequency- C:0.02WA 50
    rs798842721,2
    C,F,12329253(+) CACACG/AGTCAG 1 -- ut311Minor allele frequency- A:0.08WA 50
    rs1115846541,2
    --12340212(+) TATGCA/GCTCTG 2 S syn1 ref10--------
    rs1122349871,2
    --12360047(+) AACGTA/GTTGCT 2 H Y mis1 ref10--------
    rs1127834011,2
    --12329302(+) CTCTGC/GGCTCA 1 -- ut310--------
    About this table

    HapMap Linkage Disequilibrium images for AFG3L2 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for AFG3L2
         2 CNVs: 4052 58821

    QIAGEN SeqTarget long-range PCR primers for resequencing AFG3L2 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    AFG3L2 for disorders           About GeneDecksing

    OMIM: 604581   disorders: 610246  

    UniProtKB/Swiss-Prot: AFG32_HUMAN, Q9Y4W6

  • Defects in AFG3L2 are the cause of spinocerebellar ataxia type 28 (SCA28) [MIM:610246]. It is a clinically and
  • genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often
    poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement
    of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive
    course and no evidence of sensory involvement or cognitive impairment

    1 PharmGKB disease relationship for AFG3L2 gene

    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872
    About this table

    Human Gene Mutation Database (HGMD): AFG3L2
    Human Genome Epidemiology (HuGE) Navigator: AFG3L2 (1 document)

    Export disorders and mutations for AFG3L2 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/19 PubMed articles for AFG3L2 gene, integrated from 7 sources (see all 19):
    (articles sorted by number of sources associating them with AFG3L2)
    1. Identification and characterization of AFG3L2, a novel paraplegin- related gene. (PubMed id 10395799)1, 2, 3, 7 Banfi S.... Franco B. (1999)
    2. Mutations in the mitochondrial protease gene AFG3L2 c ause dominant hereditary ataxia SCA28. (PubMed id 20208537)1, 2 Di Bella D....Taroni F. (2010)
    3. Spinocerebellar ataxia type 28: a novel autosomal dom inant cerebellar ataxia characterized by slow progression and ophthalmoparesis. (PubMed id 18769991)1, 3 Mariotti C....Taroni F. (2008)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Early onset and slow progression of SCA28, a rare dom inant ataxia in a large four-generation family with a novel AFG3L2 mutation. (PubMed id 20354562)1 Edener U....ZA1hlke C. (2010)
    6. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    8. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    9. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    10. An intersubunit signaling network coordinates ATP hyd rolysis by m-AAA proteases. (PubMed id 19748354)1 Augustin S....Tatsuta T. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10939 HGNC: 315 AceView: AFG3L2 Ensembl:ENSG00000141385 euGenes: HUgn10939
    ECgene: AFG3L2 H-InvDB: AFG3L2

    (According to HUGE)
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