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Aliases for AFG3L2 Gene

Aliases for AFG3L2 Gene

  • AFG3-Like AAA ATPase 2 2 3
  • Paraplegin-Like Protein 3 4
  • AFG3 ATPase Family Member 3-Like 2 (S. Cerevisiae) 2
  • AFG3 ATPase Family Gene 3-Like 2 (S. Cerevisiae) 2
  • AFG3 (ATPase Family Gene 3, Yeast)-Like 2 2
  • AFG3 ATPase Family Gene 3-Like 2 (Yeast) 2
  • AFG3 ATPase Family Member 3-Like 2 3
  • AFG3 ATPase Family Gene 3-Like 2 3
  • ATPase Family Gene 3, Yeast 3
  • Spinocerebellar Ataxia 28 2
  • EC 3.4.24.- 4
  • EC 3.4.24 63
  • SPAX5 3
  • SCA28 3

External Ids for AFG3L2 Gene

Previous HGNC Symbols for AFG3L2 Gene

  • SCA28

Previous GeneCards Identifiers for AFG3L2 Gene

  • GC18P012541
  • GC18M012385
  • GC18M012319
  • GC18M012282

Summaries for AFG3L2 Gene

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 early-onset spastic ataxia-neuropathy syndrome and spinocerebellar ataxia type28. GO annotations related to this gene include metalloendopeptidase activity and unfolded protein binding.

UniProtKB/Swiss-Prot for AFG3L2 Gene

  • ATP-dependent protease which is essential for axonal development.

Gene Wiki entry for AFG3L2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFG3L2 Gene

Genomics for AFG3L2 Gene

Regulatory Elements for AFG3L2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AFG3L2 Gene

Chromosome:
18
Start:
12,328,944 bp from pter
End:
12,377,314 bp from pter
Size:
48,371 bases
Orientation:
Minus strand

Genomic View for AFG3L2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AFG3L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFG3L2 Gene

Proteins for AFG3L2 Gene

  • Protein details for AFG3L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4W6-AFG32_HUMAN
    Recommended name:
    AFG3-like protein 2
    Protein Accession:
    Q9Y4W6
    Secondary Accessions:
    • Q6P1L0

    Protein attributes for AFG3L2 Gene

    Size:
    797 amino acids
    Molecular mass:
    88584 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • Homooligomer. Interacts with SPG7; the interaction is required for the efficient assembly of mitochondrial complex I.

    Three dimensional structures from OCA and Proteopedia for AFG3L2 Gene

neXtProt entry for AFG3L2 Gene

Proteomics data for AFG3L2 Gene at MOPED

Post-translational modifications for AFG3L2 Gene

  • Ubiquitination at Lys 173, Lys 182, Lys 342, Lys 481, and Lys 611
  • Modification sites at PhosphoSitePlus

Other Protein References for AFG3L2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for AFG3L2 Gene

Suggested Antigen Peptide Sequences for AFG3L2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y4W6

UniProtKB/Swiss-Prot:

AFG32_HUMAN :
  • In the N-terminal section; belongs to the AAA ATPase family.
Family:
  • In the N-terminal section; belongs to the AAA ATPase family.
  • In the C-terminal section; belongs to the peptidase M41 family.
genes like me logo Genes that share domains with AFG3L2: view

Function for AFG3L2 Gene

Molecular function for AFG3L2 Gene

GENATLAS Biochemistry:
ATPases yeast AFG3 and RCA1 gene homolog,family gene 3-like 2,paraplegin related gene,highly expressed in heart and skeletal muscle
UniProtKB/Swiss-Prot Function:
ATP-dependent protease which is essential for axonal development.

Enzyme Numbers (IUBMB) for AFG3L2 Gene

Gene Ontology (GO) - Molecular Function for AFG3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0005515 protein binding IPI 14623864
GO:0005524 ATP binding IEA --
GO:0008270 zinc ion binding IEA --
GO:0051082 unfolded protein binding TAS 10395799
genes like me logo Genes that share ontologies with AFG3L2: view
genes like me logo Genes that share phenotypes with AFG3L2: view

Animal Model Products

miRNA for AFG3L2 Gene

miRTarBase miRNAs that target AFG3L2

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for AFG3L2 Gene

Localization for AFG3L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFG3L2 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AFG3L2 Gene COMPARTMENTS Subcellular localization image for AFG3L2 gene
Compartment Confidence
mitochondrion 4

Gene Ontology (GO) - Cellular Components for AFG3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with AFG3L2: view

Pathways & Interactions for AFG3L2 Gene

SuperPathways for AFG3L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AFG3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis --
GO:0007005 mitochondrion organization --
GO:0007409 axonogenesis IEA --
GO:0007528 neuromuscular junction development IEA --
GO:0008053 mitochondrial fusion IEA --
genes like me logo Genes that share ontologies with AFG3L2: view

No data available for Pathways by source and SIGNOR curated interactions for AFG3L2 Gene

Drugs & Compounds for AFG3L2 Gene

(1) Drugs for AFG3L2 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra Target 0
genes like me logo Genes that share compounds with AFG3L2: view

Transcripts for AFG3L2 Gene

Unigene Clusters for AFG3L2 Gene

AFG3 ATPase family member 3-like 2 (S. cerevisiae):
Representative Sequences:

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

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:

Relevant External Links for AFG3L2 Gene

GeneLoc Exon Structure for
AFG3L2
ECgene alternative splicing isoforms for
AFG3L2

Expression for AFG3L2 Gene

mRNA expression in normal human tissues for AFG3L2 Gene

mRNA differential expression in normal tissues according to GTEx for AFG3L2 Gene

This gene is overexpressed in Muscle - Skeletal (x4.7).

Protein differential expression in normal tissues from HIPED for AFG3L2 Gene

This gene is overexpressed in Heart (8.1), Nasal epithelium (7.4), and Brain (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AFG3L2 Gene



SOURCE GeneReport for Unigene cluster for AFG3L2 Gene Hs.726355

mRNA Expression by UniProt/SwissProt for AFG3L2 Gene

Q9Y4W6-AFG32_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in the cerebellar Purkinje cells.
genes like me logo Genes that share expression patterns with AFG3L2: view

Protein tissue co-expression partners for AFG3L2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for AFG3L2 Gene

Orthologs for AFG3L2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AFG3L2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AFG3L2 35
  • 86.01 (n)
  • 94.22 (a)
AFG3L2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AFG3L2 35
  • 91.22 (n)
  • 95.48 (a)
AFG3L2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Afg3l2 35
  • 85.18 (n)
  • 93.83 (a)
Afg3l2 16
Afg3l2 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AFG3L2 35
  • 99.67 (n)
  • 99.87 (a)
AFG3L2 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Afg3l2 35
  • 86.2 (n)
  • 94.09 (a)
oppossum
(Monodelphis domestica)
Mammalia AFG3L2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AFG3L2 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves AFG3L2 35
  • 76.7 (n)
  • 84.11 (a)
AFG3L2 36
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AFG3L2 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia afg3l2 35
  • 74.4 (n)
  • 83.76 (a)
zebrafish
(Danio rerio)
Actinopterygii afg3l2 35
  • 71.71 (n)
  • 83.57 (a)
Dr.14054 35
afg3l2 36
  • 79 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10435 35
fruit fly
(Drosophila melanogaster)
Insecta CG6512 37
  • 62 (a)
CG6512 35
  • 61.38 (n)
  • 67.45 (a)
CG6512 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006949 35
  • 59.87 (n)
  • 65.91 (a)
worm
(Caenorhabditis elegans)
Secernentea Y47C4A.1 37
  • 51 (a)
spg-7 35
  • 60.9 (n)
  • 63.86 (a)
spg-7 36
  • 56 (a)
OneToMany
Y108F1.1 36
  • 44 (a)
OneToMany
Y47C4A.1 36
  • 44 (a)
OneToMany
Y73B3A.21 36
  • 43 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR025C 35
  • 57.97 (n)
  • 58.24 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AFG3 35
  • 58.25 (n)
  • 58.64 (a)
YTA12 36
  • 43 (a)
OneToOne
YTA12 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ftsh10 35
  • 59.12 (n)
  • 58.56 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7456 35
barley
(Hordeum vulgare)
Liliopsida Hv.4858 35
rice
(Oryza sativa)
Liliopsida Os01g0842600 35
  • 59.59 (n)
  • 57.73 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.1329 35
corn
(Zea mays)
Liliopsida Zm.5595 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 65 (a)
OneToOne
Species with no ortholog for AFG3L2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for AFG3L2 Gene

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

Paralogs for AFG3L2 Gene

(13) SIMAP similar genes for AFG3L2 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for AFG3L2 Gene

genes like me logo Genes that share paralogs with AFG3L2: view

No data available for Paralogs for AFG3L2 Gene

Variants for AFG3L2 Gene

Sequence variations from dbSNP and Humsavar for AFG3L2 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs478088 -- 12,379,184(+) CAAAG(G/T)GTGTT upstream-variant-2KB
rs693449 -- 12,378,228(+) ccaaa(C/G)aaaat upstream-variant-2KB
rs1105179 -- 12,375,258(-) aaaaG(A/G)GCGGG intron-variant
rs1547858 -- 12,366,611(-) GTGCT(A/G)TCATG intron-variant
rs1941222 -- 12,374,363(+) TGGGC(A/T)TCACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AFG3L2 Gene

Variant ID Type Subtype PubMed ID
nsv909400 CNV Loss 21882294
dgv1012e1 CNV Complex 17122850
nsv819744 CNV Loss 19587683

Variation tolerance for AFG3L2 Gene

Residual Variation Intolerance Score: 5.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.09; 22.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AFG3L2 Gene

HapMap Linkage Disequilibrium report
AFG3L2
Human Gene Mutation Database (HGMD)
AFG3L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFG3L2 Gene

Disorders for AFG3L2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for AFG3L2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
early-onset spastic ataxia-neuropathy syndrome
  • afg3l2-related spastic ataxia-neuropathy syndrome
spinocerebellar ataxia type28
  • sca28
spinocerebellar ataxia 28
  • spinocerebellar ataxia type 28
ataxia, spastic, 5, autosomal recessive
  • spax5
ptosis
  • drooping eyelid
- elite association

UniProtKB/Swiss-Prot

AFG32_HUMAN
  • 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. {ECO:0000269 PubMed:22022284}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:20208537, ECO:0000269 PubMed:20354562, ECO:0000269 PubMed:20725928}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AFG3L2

Genetic Association Database (GAD)
AFG3L2
Human Genome Epidemiology (HuGE) Navigator
AFG3L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AFG3L2
genes like me logo Genes that share disorders with AFG3L2: view

No data available for Genatlas for AFG3L2 Gene

Publications for AFG3L2 Gene

  1. Identification and characterization of AFG3L2, a novel paraplegin- related gene. (PMID: 10395799) Banfi S. … Franco B. (Genomics 1999) 2 23 67
  2. Autocatalytic processing of m-AAA protease subunits in mitochondria. (PMID: 19656850) Koppen M. … Langer T. (Mol. Biol. Cell 2009) 23 67
  3. Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration. (PMID: 19625515) Maltecca F. … Casari G. (J. Neurosci. 2009) 23 67
  4. Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration. (PMID: 19289403) Martinelli P. … Rugarli E.I. (Hum. Mol. Genet. 2009) 23 67
  5. Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. (PMID: 18769991) Mariotti C. … Taroni F. (Cerebellum 2008) 2 67

Products for AFG3L2 Gene

Sources for AFG3L2 Gene

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