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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AFG3L2 Gene

protein-coding   GIFtS: 59
GCID: GC18M012328

AFG3 ATPase Family Member 3-Like 2 (S. Cerevisiae)

(Previous names: AFG3 (ATPase family gene 3, yeast)-like 2, spinocerebellar...)
(Previous symbol: SCA28)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
AFG3 ATPase Family Member 3-Like 2 (S. Cerevisiae)1 2     SPAX52
SCA281 2 5     AFG3 ATPase Family Gene 3-Like 22
Paraplegin-Like Protein2 3     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
Spinocerebellar Ataxia 281     

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

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 ATPase family member 3-like 2 (S. cerevisiae)) is a protein-coding gene. Diseases associated with AFG3L2 include spinocerebellar ataxia type28, and spinocerebellar ataxia type 28. GO annotations related to this gene include unfolded protein binding and nucleoside-triphosphatase 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.2  NT_010859.14  
Regulatory elements:
   SABiosciences 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
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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. Interacts with SPG7; the interaction is required for the efficient assembly of
mitochondrial complex I
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y4W6

  • 4/22 DME Specific Peptides for AFG3L2 (Q9Y4W6) (see all 22)
     EMFVGVG  TPGFSGA  GHAVAGW  LVEMDGF 

    AFG3L2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AFG3L2 Protein Expression
    REFSEQ proteins: NP_006787.2  
    ENSEMBL proteins: 
     ENSP00000269143   ENSP00000467236  

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

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

    AFG3L2 for ontologies           About GeneDecksing



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

    5/7 InterPro protein domains (see all 7):
     IPR003959 ATPase_AAA_core
     IPR003960 ATPase_AAA_CS
     IPR000642 Peptidase_M41
     IPR027417 P-loop_NTPase
     IPR005936 FtsH

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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  hematopoietic system  immune system 
     liver/biliary system  mortality/aging  muscle  nervous system 

    AFG3L2 for phenotypes           About GeneDecksing

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AFG3L2 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AFG3L2

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

    5/328 Interacting proteins for AFG3L2 (Q9Y4W62, 3 ENSP000002691434) via UniProtKB, MINT, STRING, and/or I2D (see all 328)
    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): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    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

    Search CenterWatch for drugs/clinical trials and news about AFG3L2 / AFG32

    (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,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for AFG3L2 gene: 
    NM_006796.2  

    Unigene Cluster for AFG3L2:

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

    AK124414.1 AK129504.1 BC024282.1 BC065016.1 Y18314.1 

    16 DOTS entries:

    DT.100032341  DT.100820143  DT.453901  DT.100708063  DT.100820137  DT.97855895  DT.91723171  DT.100059325 
    DT.91810619  DT.95116344  DT.75103624  DT.95109528  DT.100820138  DT.121082751  DT.75186600  DT.86852669 

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

    AA598847 BF794329 AA362556 BQ188437 CK301097 BM699661 BU844783 BU172953 
    BQ053131 CB528874 BU786821 AI299188 W56804 BQ635933 BF448070 BU859081 
    BU839293 CF125012 BM541550 AA551931 BM840267 CF454631 BE409103 C05256 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AFG3L2 expression in normal human tissues (normalized intensities)      AFG3L2 embryonic expression: see
    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 
     5/2 selected tissues (see all 2) fully expand
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical cord blood-derived hematopoietic stem cells
     
     Blood (Hematopoietic System)
             Umbilical cord blood-derived hematopoietic stem cells

    See AFG3L2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AFG3L2

    SOURCE GeneReport for Unigene cluster: Hs.726355

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

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AFG3L2 gene from 10/29 species (see all 29)    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 85.07(n)1
    93.46(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) 76.72(n)
    84.03(a)
      421036  XM_419121.3  XP_419121.2 
    lizard
    (Anolis carolinensis)
    Reptilia AFG3L26
    AFG3 ATPase family member 3-like 2 (S. cerevisiae)...
    70(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
    62.41(n)1
    68.68(a)1
      399221  NM_168720.21  NP_730248.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y47C4A.13
    spg-71
    Protein SPG-71 51(a)3
    61.36(n)1
    64.28(a)1
      X(318434-321833)3
    1719151  NM_058764.31  NP_491165.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YTA12(YMR089C)4
    YTA121
    Component, with Afg3p, of the mitochondrial inner membrane more4
    Yta12p1
    58.19(n)1
    57.28(a)1
      13(448086-445609)4
    8551141, 4  NP_013807.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ftsh31 cell division protease ftsH-3 57.32(n)
    55.91(a)
      817456  NM_179798.1  NP_850129.1 
    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1185 SNPs in AFG3L2 are shown (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 autosomal recessive 5 (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
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 604581   
    OMIM disorders: 610246  
    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 autosomal recessive 5 (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

  • 17 diseases for AFG3L2:    About MalaCards
    spinocerebellar ataxia type28    spinocerebellar ataxia type 28    hereditary spastic paraplegia    blepharospasm
    hereditary ataxia    dentatorubral-pallidoluysian atrophy    paraplegia    spasticity
    spinocerebellar ataxia    cerebellar degeneration    cerebellar ataxia    ataxia
    apraxia    peripheral neuropathy    pneumonia    neuropathy
    tuberculosis

    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)
    About This Section

    PubMed articles for AFG3L2 gene, integrated from 9 sources (see all 33):
    (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. (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. (2003)
    3. Whole-exome sequencing identifies homozygous AFG3L2 m utations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. (PubMed id 22022284)1, 2 Pierson T.M....Toro C. (2011)
    4. Mutations in the mitochondrial protease gene AFG3L2 c ause dominant hereditary ataxia SCA28. (PubMed id 20208537)1, 2 Di Bella D....Taroni F. (2010)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    6. 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, 2 Edener U....ZA1hlke C. (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. (2010)
    8. 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)
    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. (2004)
    10. Nonsense mutations in the COX1 subunit impair the stab ility of respiratory chain complexes rather than their assembly. (PubMed id 22252130)1 Hornig-Do H.T....Wiesner R.J. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10939 HGNC: 315 AceView: AFG3L2 Ensembl:ENSG00000141385 euGenes: HUgn10939
    ECgene: AFG3L2 H-InvDB: AFG3L2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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