AFG3L2 Gene
protein-coding GIFtS: 57
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)
| |
Aliases
for AFG3L2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
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 | | |
Export aliases for AFG3L2 gene to outside databasesPrevious GC identifers: GC18P012541 GC18M012385 GC18M012319 GC18M012282 |
Summaries
for AFG3L2 gene(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:
This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene isresponsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for otherhereditary spastic paraplegias or neurodegenerative disorders. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: AFG32_HUMAN, Q9Y4W6Function: ATP-dependent protease which is essential for axonal development (By similarity)
Gene Wiki entry for AFG3L2
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000018.9 NC_018929.1 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
Search SABiosciences Chromatin IP Primers for AFG3L2
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: 18p11.21AFG3L2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for AFG3L2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 mitochondrialcomplex I
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein
1 PDB 3D structure from  and Proteopedia  for AFG3L2:2LNA (3D)
Secondary accessions: Q6P1L0Explore the universe of human proteins at neXtProt for AFG3L2: NX_Q9Y4W6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y4W6
4/22 DME Specific Peptides for AFG3L2 (Q9Y4W6) (see all 22)
AFG3L2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_006787.2
ENSEMBL proteins: ENSP00000269143 ENSP00000467236
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
AFG3L2 for ontologies About GeneDecksing
AFG3L2 Antibody Products:
Assay Products for AFG3L2: |
Protein
Domains /
Families
for AFG3L2 gene(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):Graphical View of Domain Structure for InterPro Entry Q9Y4W6ProtoNet protein and cluster: Q9Y4W6 2 Blocks protein families: IPB000642 Peptidase M41 IPB003960 AAA-protein subdomain
UniProtKB/Swiss-Prot: AFG32_HUMAN, Q9Y4W6Similarity: In the N-terminal section; belongs to the AAA ATPase familySimilarity: In the C-terminal section; belongs to the peptidase M41 family |
Function
for AFG3L2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: AFG32_HUMAN, Q9Y4W6Function: 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 andskeletal muscle
Enzyme Numbers (IUBMB): EC 3.4.24.-1 EC 3.4.242
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AFG3L2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AFG3L2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: AFG3L2 (NM_006796) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AFG3L2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AFG3L2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFG3L2 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
AFG3L2 for ontologies About GeneDecksing
Animal Models:
7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Afg3l2):
AFG3L2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for AFG3L2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 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)
5/308 Interacting proteins for AFG3L2 (Q9Y4W62, 3 ENSP000002691434) via UniProtKB, MINT, STRING, and/or I2D (see all 308)About this table
Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table
AFG3L2 for ontologies About GeneDecksing
|
Drugs & Compounds
for AFG3L2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for AFG3L2
1 DrugBank Compound for AFG3L2 About this table
Search CenterWatch for drugs/clinical trials and news about AFG3L2 / AFG32
|
Transcripts
for AFG3L2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
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_0067964 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000269143(uc002kqz.2) ENST00000588893 ENST00000590811 ENST00000591848
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AFG3L2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AFG3L2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: AFG3L2 (NM_006796) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AFG3L2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AFG3L2 |
Additional cDNA sequence: AK124414.1 AK129504.1 BC024282.1 BC065016.1 Y18314.1 13 DOTS entries: DT.100032341 DT.100820143 DT.453901 DT.100708063 DT.100820137 DT.97855895 DT.91723171 DT.95116344 DT.75103624 DT.95109528 DT.100820138 DT.75186600 DT.86852669 24/294 AceView cDNA sequences (see all 294): BM459654 AA011416 CB529389 CR597170 BX281738 CB215056 AI889665 D16987 BE384343 BQ635933 BG697831 AW874279 AA362556 BF794329 W56804 BU859081 BF448070 AA598847 AI299188 BU786821 BQ053131 CB528874 BU172953 BM699661
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
|
Expression
for AFG3L2 gene
(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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
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, Q9Y4W6Tissue specificity: Ubiquitous. Highly expressed in the cerebellar Purkinje cells
SABiosciences Custom PCR Arrays for AFG3L2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AFG3L2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AFG3L2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AFG3L2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AFG3L2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFG3L2 |
Orthologs
for AFG3L2 gene
(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 last universal common ancestor (LUCA).
Orthologs for AFG3L2 gene from 10/44 species (see all 44) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
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 |
-- |
73(a) |
1 ↔ 1 |
GL343866.1(123210-135667) |
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 |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
ftsH6 |
protease, ATP-dependent zinc-metallo |
36(a) |
possible ortholog |
Chromosome(3323023-3324957) |
ENSEMBL Gene Tree for AFG3L2 (if available)
TreeFam Gene Tree for AFG3L2 (if available) |
Paralogs
for AFG3L2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for AFG3L2 gene
- SPG72
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
|
Genomic Variants
for AFG3L2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 18 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AFG3L2 (12328943 - 12377313 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for AFG3L2
2 CNVs: 4052 58821
Human Gene Mutation Database (HGMD): AFG3L2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AFG3L2 |
|
Disorders
/ Diseases
for AFG3L2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AFG3L2 for disorders About GeneDecksing
OMIM gene information: 604581
OMIM 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 andgenetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and oftenpoor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvementof the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressivecourse and no evidence of sensory involvement or cognitive impairment Defects in AFG3L2 are the cause of spastic ataxia autosomal recessive type 5 (SPAX5) [MIM:614487]. Aneurodegenerative disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia,dystonia, cerebellar atrophy, and progressive myoclonic epilepsy
17  diseases for AFG3L2: About MalaCardshereditary spastic paraplegia spastic paraplegia spinocerebellar ataxia paraplegia
spasticity spinocerebellar ataxia type 28 ataxia cerebellar degeneration
blepharospasm cerebellar ataxia spastic ataxia hereditary ataxia
neuropathy pneumonia tuberculosis malaria
mycobacterium tuberculosis
4 diseases from the University of Copenhagen DISEASES database for AFG3L2:Paraplegia Spinocerebellar ataxia Cerebellar ataxia dentatorubral-pallidoluysian atrophy Human Genome Epidemiology (HuGE) Navigator: AFG3L2 (1 document)
Export disorders for AFG3L2 gene to outside databases
|
Publications
for AFG3L2 gene (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 31):
(articles sorted by number of sources associating them with AFG3L2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification and characterization of AFG3L2, a novel paraplegin- related gene. (PubMed id 10395799)1, 2, 3, 9 Banfi S.... Franco B. (1999)
- 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)
- 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)
- Mutations in the mitochondrial protease gene AFG3L2 c ause dominant hereditary ataxia SCA28. (PubMed id 20208537)1, 2 Di Bella D....Taroni F. (2010)
- 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)
- 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)
- 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)
- 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)
- 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)
- Spinocerebellar ataxia type 28. (PubMed id 21827917)1 Mariotti C....Taroni F. (2012)
|
External Searches for AFG3L2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing AFG3L2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AFG3L2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AFG3L2 gene(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
|
| Name | Description |
| PharmGKB entry for AFG3L2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
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
|
Products
for AFG3L2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for AFG3L2 | | OriGene shRNA RFP for AFG3L2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AFG3L2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AFG3L2 | | | OriGene Protein Over-expression Lysate for AFG3L2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for AFG3L2 | | OriGene 3'-UTR Clone for AFG3L2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AFG3L2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AFG3L2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for AFG3L2 | | OriGene Custom Protein Services for AFG3L2 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AFG3L2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AFG3L2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AFG3L2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AFG3L2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AFG3L2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AFG3L2 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for AFG3L2 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | AFG3L2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFG3L2 |
|  |  |  | | | | Search ThermoFisher Antibodies for AFG3L2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AFG3L2 |
|
|
|
|
