AFG3L2 Gene
protein-coding GIFtS: 59
GC18M012282
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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)
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Aliases &
Descriptions
for AFG3L2 gene
(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 |
Export aliases for AFG3L2 gene to outside databasesPrevious GC identifers: GC18P012541 GC18M012385 GC18M012319 GC18M012328 |
Summaries
for AFG3L2 gene(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 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)
UniProtKB/Swiss-Prot: AFG32_HUMAN, Q9Y4W6Function: ATP-dependent protease which is essential for axonal development (By similarity)
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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 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: 18p11.21AFG3L2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 18 GeneLoc Exon Structure GeneLoc location for GC18M012282: view genomic region
(about GC identifiers)
Start:
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12,282,720 bp from pter |
End:
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12,377,251 bp from pter |
Size:
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94,532 bases |
Orientation:
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minus strand |
RefSeq DNA sequence:- NC_000018.9 NT_010859.14
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Proteins
for AFG3L2 gene
(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
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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 (By similarity)
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein
Secondary accessions: Q6P1L0Explore 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
4 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
AFG3L2 for ontologies About GeneDecksing
Antibodies for AFG3L2:
Assays 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
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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 |
Gene Function
for AFG3L2 gene
(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
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UniProtKB/Swiss-Prot: AFG32_HUMAN, Q9Y4W6Function: ATP-dependent protease which is essential for axonal development (By similarity)Enzyme Number (IUBMB): EC 3.4.24.-
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 muscle5/8 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 8): 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
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Pathways & Interactions
for AFG3L2 gene
(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
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)About this table
5/11 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 11): About this table
AFG3L2 for ontologies About GeneDecksing
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Drugs & Compounds
for AFG3L2 gene(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 Tocris compounds for AFG3L2
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Transcripts
for AFG3L2 gene(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
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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 |
|---|
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| 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)
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Expression
for AFG3L2 gene
(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
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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
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, Q9Y4W6Tissue specificity: Ubiquitous. Highly expressed in the cerebellar Purkinje cells
SABiosciences Custom PCR Arrays for AFG3L2
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Orthologs
for AFG3L2 gene
(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)
About this table Species with no ortholog for AFG3L2
ENSEMBL Gene Tree for AFG3L2 (if available) |
Paralogs
for AFG3L2 gene(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
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Genomic Variants
for AFG3L2 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 18 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap 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 |
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Disorders & Mutations
for AFG3L2 gene
(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 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 impairment1 PharmGKB disease relationship for AFG3L2 gene 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
|
Medical News
for AFG3L2 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for AFG3L2 gene (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)- Identification and characterization of AFG3L2, a novel paraplegin- related gene. (PubMed id 10395799)1, 2, 3, 7 Banfi S.... Franco B. (1999)
- Mutations in the mitochondrial protease gene AFG3L2 c ause dominant hereditary ataxia SCA28. (PubMed id 20208537)1, 2 Di Bella D....Taroni F. (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)
- 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)
- Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
- Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
- Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
- 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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External Searches for AFG3L2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
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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 by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
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