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AFG3L2 Gene

protein-coding   GIFtS: 58
GCID: GC18M012328

AFG3-Like AAA ATPase 2

(Previous names: AFG3 (ATPase family gene 3, yeast)-like 2, spinocerebellar...)
(Previous symbol: SCA28)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
AFG3-Like AAA ATPase 21 2     Spinocerebellar Ataxia 281
SCA281 2 5     AFG3 ATPase Family Gene 3-Like 22
Paraplegin-Like Protein2 3     AFG3 ATPase Family Member 3-Like 22
SPAX52 5     AFG3-Like Protein 22
AFG3 (ATPase Family Gene 3, Yeast)-Like 21     ATPase Family Gene 3, Yeast2
AFG3 ATPase Family Gene 3-Like 2 (S. Cerevisiae)1     EC 3.4.24.-3
AFG3 ATPase Family Gene 3-Like 2 (Yeast)1     EC 3.4.248
AFG3 ATPase Family Member 3-Like 2 (S. Cerevisiae)1     

External Ids:    HGNC: 3151   Entrez Gene: 109392   Ensembl: ENSG000001413857   OMIM: 6045815   UniProtKB: Q9Y4W63   

Export aliases for AFG3L2 gene to outside databases

Previous GC identifers: GC18P012541 GC18M012385 GC18M012319 GC18M012282


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AFG3L2 Gene:
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)

GeneCards Summary for AFG3L2 Gene:
AFG3L2 (AFG3-like AAA ATPase 2) is a protein-coding gene. Diseases associated with AFG3L2 include spinocerebellar ataxia type28, and ataxia, spastic, 5, autosomal recessive. GO annotations related to this gene include nucleoside-triphosphatase activity and metalloendopeptidase activity.

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

Gene Wiki entry for AFG3L2 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the AFG3L2 gene promoter:
         HOXA9B   HOXA9   Pax-5   Sp1   ATF-2   LCR-F1   CREB   CRE-BP1   deltaCREB   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAFG3L2 promoter sequence
   Search Chromatin IP Primers for AFG3L2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat 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 information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M012328:  view genomic region     (about GC identifiers)

Start:
12,328,943 bp from pter      End:
12,377,313 bp from pter
Size:
48,371 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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. Interacts with SPG7; the interaction is required for the efficient assembly of
mitochondrial complex I
1 PDB 3D structure from and Proteopedia for AFG3L2:
2LNA (3D)    
Secondary accessions: Q6P1L0

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

Explore proteomics data for AFG3L2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys173, Lys182, Lys342, Lys481, Lys543, Lys611
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AFG3L2 (Q9Y4W6) (see all 22)
     EMFVGVG  TPGFSGA  GHAVAGW  LVEMDGF 


    See AFG3L2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006787.2  
    ENSEMBL proteins: 
     ENSP00000269143   ENSP00000467236  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AATP: ATPases / AAA-type

    Selected InterPro protein domains (see all 7):
     IPR003959 ATPase_AAA_core
     IPR005936 FtsH
     IPR003960 ATPase_AAA_CS
     IPR000642 Peptidase_M41
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q9Y4W6

    ProtoNet protein and cluster: Q9Y4W6

    2 Blocks protein domains:
    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


    AFG3L2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

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

         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

         Enzyme Numbers (IUBMB): EC 3.4.24.-1 EC 3.4.242

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005515protein binding IPI14623864
    GO:0005524ATP binding IEA--
    GO:0008270zinc ion binding IEA--
         
    AFG3L2 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Afg3l2):
     behavior/neurological  cellular  growth/size/body  hematopoietic system  immune system 
     liver/biliary system  mortality/aging  muscle  nervous system 

    AFG3L2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AFG3L2
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    miRNA
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    miRTarBase miRNAs that target AFG3L2:
    hsa-mir-16-5p (MIRT031837)

    Block miRNA regulation of human, mouse, rat AFG3L2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AFG3L2 (see all 13):
    hsa-miR-124* hsa-miR-181c hsa-miR-548k hsa-miR-3120-3p hsa-miR-181a hsa-miR-181d hsa-miR-548aa hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidAFG3L2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AFG3L2

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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AFG3L2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFG3L2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AFG32_HUMAN, Q9Y4W6: Mitochondrion membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    AFG3L2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AFG3L2
    Interactions:

        Search GeneGlobe Interaction Network for AFG3L2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AFG3L2 (Q9Y4W62, 3 ENSP000002691434) via UniProtKB, MINT, STRING, and/or I2D (see all 348)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0007005mitochondrion organization ----
    GO:0007409axonogenesis IEA--
    GO:0007528neuromuscular junction development IEA--
    GO:0008053mitochondrial fusion IEA--

    AFG3L2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AFG3L2 (AFG32)

    1 DrugBank Compound for AFG3L2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17139284 17016423



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AFG3L2 gene: 
    NM_006796.2  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000269143(uc002kqz.2) ENST00000588893 ENST00000590811 ENST00000591848

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Selected qRT-PCR Assays for microRNAs that regulate AFG3L2 (see all 13):
    hsa-miR-124* hsa-miR-181c hsa-miR-548k hsa-miR-3120-3p hsa-miR-181a hsa-miR-181d hsa-miR-548aa hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidAFG3L2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AFG3L2
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      QuantiTect SYBR Green Assays in human, mouse, rat AFG3L2
      QuantiFast Probe-based Assays in human, mouse, rat AFG3L2

    Selected AceView cDNA sequences (see all 294):

    BQ948787 BC024282 CF125012 AI289601 BM473587 CB216062 BU184233 CB529084 
    CB159770 AW051633 BM459654 CR597170 BU839293 BM840267 D16987 BE384343 
    AK129504 BM799737 AI571510 BE409103 AW044550 BE386023 C05256 BP381808 

    GeneLoc Exon Structure

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

    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:                                                                                                                                    


    ECgene alternative splicing isoforms for AFG3L2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AFG3L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AFG3L2 Expression
    About this image


    AFG3L2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord blood-derived hematopoietic stem cells
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Umbilical cord blood-derived hematopoietic stem cells
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    AFG3L2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AFG3L2 Protein Expression

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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFG3L2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AFG3L2 gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Afg3l21 , 5 AFG3(ATPase family gene 3)-like 2 (yeast)1, 5 85.18(n)1
    93.83(a)1
      18 (39.96 cM)5
    695971  NM_027130.11  NP_081406.11 
     674047645 
    chicken
    (Gallus gallus)
    Aves AFG3L21 AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 76.7(n)
    84.11(a)
      421036  XM_419121.4  XP_419121.2 
    lizard
    (Anolis carolinensis)
    Reptilia AFG3L26
    AFG3-like AAA ATPase 2
    71(a)
    1 ↔ 1
    GL343866.1(123120-135667)
    African clawed frog
    (Xenopus laevis)
    Amphibia CD302089.12   -- 75.94(n)    CD302089.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.140542 Transcribed sequence with strong similarity to protein more 77.74(n)    BI844613.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG65121 , 3 adenosinetriphosphatase3
    CG65121
    62(a)3
    61.38(n)1
    67.45(a)1
      399221  NM_168720.31  NP_730248.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y47C4A.13
    spg-71
    spg-71 51(a)3
    60.9(n)1
    63.86(a)1
      X(318434-321833)3
    1719151  NM_058764.41  NP_491165.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YTA12(YMR089C)4
    AFG31
    Component, with Afg3p, of the mitochondrial inner membrane more4
    AFG31
    58.25(n)1
    58.64(a)1
      13(448086-445609)4
    8567371  NP_010933.11  8551144 
     NP_013807.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ftsh101 ftsh10 59.12(n)
    58.56(a)
      837265  NM_100625.3  NP_172231.2 
    rice
    (Oryza sativa)
    Liliopsida AK100245.12   -- 74.28(n)    AK100245.1 


    ENSEMBL Gene Tree for AFG3L2 (if available)
    TreeFam Gene Tree for AFG3L2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AFG3L2 gene
    13 SIMAP similar genes for AFG3L2 using alignment to 3 protein entries:     AFG32_HUMAN (see all proteins):
    DKFZp666D103    VCP    DKFZp434K0126    FTSH    PSMC5    SPG7
    YME1L1    PSMC2    PSMC3    PSMC1    PSMC4    PSMC6
    DKFZp667C165

    AFG3L2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for AFG3L2
    PGOHUM00000249187 PGOHUM00000249313


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AFG3L2 (see all 1185)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0635444
    Spinocerebellar ataxia 28 (SCA28)4--see VAR_0635442 N T mis40--------
    VAR_0644084
    Spinocerebellar ataxia 28 (SCA28)4--see VAR_0644082 E K mis40--------
    VAR_0644034
    Spinocerebellar ataxia 28 (SCA28)4--see VAR_0644032 M R mis40--------
    VAR_0644044
    Spinocerebellar ataxia 28 (SCA28)4--see VAR_0644042 M T mis40--------
    VAR_0673304
    Spastic ataxia 5, autosomal recessive (SPAX5)4--see VAR_0673302 Y C mis40--------
    VAR_0644074
    Spinocerebellar ataxia 28 (SCA28)4--see VAR_0644072 G R mis40--------
    VAR_0644024
    Spinocerebellar ataxia 28 (SCA28)4--see VAR_0644022 T I mis40--------
    VAR_0644054
    Spinocerebellar ataxia 28 (SCA28)4--see VAR_0644052 M V mis40--------
    VAR_0635454
    Spinocerebellar ataxia 28 (SCA28)4--see VAR_0635452 E K mis40--------
    VAR_0644064
    Spinocerebellar ataxia 28 (SCA28)4--see VAR_0644062 G E mis40--------

    HapMap Linkage Disequilibrium report for AFG3L2 (12328943 - 12377313 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for AFG3L2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv909400CNV Loss21882294
    nsv819744CNV Loss19587683
    dgv1012e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): AFG3L2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AFG3L2
    DNA2.0 Custom Variant and Variant Library Synthesis for AFG3L2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604581   
    OMIM disorders: 610246  614487  
    UniProtKB/Swiss-Prot: AFG32_HUMAN, Q9Y4W6
  • Spinocerebellar ataxia 28 (SCA28) [MIM:610246]: Spinocerebellar ataxia 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487]: A neurodegenerative disorder characterized by
    early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and
    progressive myoclonic epilepsy. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for AFG3L2 (see all 21):    
    About MalaCards
    spinocerebellar ataxia type28    ataxia, spastic, 5, autosomal recessive    spinocerebellar ataxia type 28    hereditary spastic paraplegia
    blepharospasm    hereditary ataxia    dentatorubral-pallidoluysian atrophy    paraplegia
    spasticity    spinocerebellar ataxia    cerebellar degeneration    ataxia
    apraxia    cerebellar ataxia    peripheral neuropathy    neuropathy
    pneumonia    tuberculosis    multiple myeloma    myeloma

    4 diseases from the University of Copenhagen DISEASES database for AFG3L2:
    Paraplegia     Spinocerebellar ataxia     Cerebellar ataxia     dentatorubral-pallidoluysian atrophy

    AFG3L2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): AFG3L2
    Human Genome Epidemiology (HuGE) Navigator: AFG3L2 (1 document)

    Export disorders for AFG3L2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AFG3L2 gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with AFG3L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of AFG3L2, a novel paraplegin- related gene. (PubMed id 10395799)1, 2, 3, 9 Banfi S.... Franco B. (Genomics 1999)
    2. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. (PubMed id 14623864)1, 2, 9 Atorino L.... Casari G. (J. Cell Biol. 2003)
    3. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. (PubMed id 22022284)1, 2 Pierson T.M.... Toro C. (PLoS Genet. 2011)
    4. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. (PubMed id 20208537)1, 2 Di Bella D.... Taroni F. (Nat. Genet. 2010)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. (PubMed id 20354562)1, 2 Edener U.... Zuhlke C. (Eur. J. Hum. Genet. 2010)
    7. Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias. (PubMed id 20725928)1, 2 Cagnoli C.... Brusco A. (Hum. Mutat. 2010)
    8. Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. (PubMed id 18769991)1, 3 Mariotti C....Taroni F. (Cerebellum 2008)
    9. 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. (Genome Res. 2004)
    10. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AFG3L2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AFG3L2 gene:
    Search GeneIP for patents involving AFG3L2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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