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Aliases for AFG3L2 Gene

Aliases for AFG3L2 Gene

  • AFG3 Like Matrix AAA Peptidase Subunit 2 2 3 5
  • Paraplegin-Like Protein 3 4
  • AFG3 Like AAA ATPase 2 2 3
  • AFG3 ATPase Family Member 3-Like 2 (S. Cerevisiae) 2
  • AFG3 (ATPase Family Gene 3, Yeast)-Like 2 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
  • AFG3-Like Protein 2 3
  • EC 3.4.24.- 4
  • EC 3.4.24 61
  • 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 Matrix AAA Peptidase Subunit 2) is a Protein Coding gene. Diseases associated with AFG3L2 include Spinocerebellar Ataxia 28 and Ataxia, Spastic, 5, Autosomal Recessive. GO annotations related to this gene include metalloendopeptidase activity and unfolded protein binding. An important paralog of this gene is SPG7.

UniProtKB/Swiss-Prot for AFG3L2 Gene

  • ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU.

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

Enhancers for AFG3L2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18F012347 0.3 FANTOM5 14.2 +29.8 29839 0.1 AFG3L2 CEP76 TUBB6 RNU6-170P RNU7-129P PRELID3A PSMG2
GH18F012338 0.4 ENCODE 12.8 +38.7 38667 0.8 TEAD4 TUBB6 AFG3L2 RNU6-170P RNU7-129P PRELID3A PSMG2 CEP76 LOC105371997
GH18F012333 0.6 ENCODE 12 +41.4 41440 3.8 HDAC1 PKNOX1 KLF17 FEZF1 RARA ZNF366 MIXL1 HMG20B TSHZ1 ZNF843 TUBB6 AFG3L2 RNU7-129P PRELID3A ENSG00000267199
GH18F012327 0.8 ENCODE 12 +49.3 49278 1.7 ELF3 HDAC1 ARNT ARID4B SIN3A DMAP1 RAD21 GLIS2 ZNF143 ZNF654 TUBB6 AFG3L2 RNU6-170P
GH18F012313 1.5 FANTOM5 Ensembl ENCODE 11.2 +61.4 61351 5.8 SCRT1 ZNF263 PKNOX1 RFX1 MAFG ZIC2 NR2F2 RFX5 ZNF121 ZNF316 TUBB6 AFG3L2 RNU7-129P PRELID3A IMPA2 CHMP1B
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AFG3L2 on UCSC Golden Path with GeneCards custom track

Promoters for AFG3L2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000522615 214 3000 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS

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

Genes around AFG3L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AFG3L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    Quaternary structure:
    • Homooligomer (PubMed:17101804). Interacts with SPG7; the interaction is required for the efficient assembly of mitochondrial complex I (PubMed:14623864). Interacts with C2orf47/MAIP1 (PubMed:27499296, PubMed:27642048).

    Three dimensional structures from OCA and Proteopedia for AFG3L2 Gene

neXtProt entry for AFG3L2 Gene

Selected DME Specific Peptides for AFG3L2 Gene

Q9Y4W6:
  • GGLFSVGETTAK
  • AGEANVPF
  • VWFNIGSVDTFERNLE
  • SIFKVHLRPLKLD
  • LGYAQYLP
  • GHAVAGW
  • LVEMDGF
  • FIDEIDAVG
  • VDRLEVVNK
  • AYHEAGH
  • TLNQLLVE
  • EMFVGVG
  • PDILDPAL
  • GAKIPKG
  • HFEQAIERV
  • GRVSEEIFFG
  • GAQDDLRKVT
  • TPGFSGA
  • DPLLKVSIIPR
  • GGQSEQENTLNQ
  • ALLRPGRFDR
  • EKPYSEATA

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:

Domains & Families for AFG3L2 Gene

Gene 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 and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU.

Enzyme Numbers (IUBMB) for AFG3L2 Gene

Gene Ontology (GO) - Molecular Function for AFG3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004176 ATP-dependent peptidase activity IBA --
GO:0004222 metalloendopeptidase activity IEA --
GO:0005515 protein binding IPI 14623864
GO:0005524 ATP binding IEA --
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with AFG3L2: view
genes like me logo Genes that share phenotypes with AFG3L2: view

Human Phenotype Ontology for AFG3L2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for AFG3L2

miRNA for AFG3L2 Gene

miRTarBase miRNAs that target AFG3L2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 5
cytosol 2
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AFG3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,TAS --
GO:0005743 mitochondrial inner membrane IEA,IBA --
GO:0005745 m-AAA complex IEA --
GO:0016020 membrane IEA --
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:0006461 protein complex assembly IBA --
GO:0006508 proteolysis IEA,IMP 27642048
GO:0007005 mitochondrion organization IEA --
GO:0007409 axonogenesis IMP 27642048
GO:0007528 neuromuscular junction development 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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for AFG3L2 Gene



Protein tissue co-expression partners for AFG3L2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AFG3L2 Gene:

AFG3L2

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia AFG3L2 34 35
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia AFG3L2 34 35
  • 91.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AFG3L2 35
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AFG3L2 35
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Afg3l2 34
  • 86.2 (n)
cow
(Bos Taurus)
Mammalia AFG3L2 34 35
  • 86.01 (n)
mouse
(Mus musculus)
Mammalia Afg3l2 34 16 35
  • 85.18 (n)
chicken
(Gallus gallus)
Aves AFG3L2 34 35
  • 76.7 (n)
lizard
(Anolis carolinensis)
Reptilia AFG3L2 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia afg3l2 34
  • 74.4 (n)
zebrafish
(Danio rerio)
Actinopterygii afg3l2 34 35
  • 71.71 (n)
Dr.14054 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10435 34
fruit fly
(Drosophila melanogaster)
Insecta CG6512 36 34 35
  • 61.38 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006949 34
  • 59.87 (n)
worm
(Caenorhabditis elegans)
Secernentea spg-7 34 35
  • 60.9 (n)
Y47C4A.1 36 35
  • 51 (a)
Y108F1.1 35
  • 44 (a)
OneToMany
Y73B3A.21 35
  • 43 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AFG3 34
  • 58.25 (n)
YTA12 35 37
  • 43 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR025C 34
  • 57.97 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ftsh10 34
  • 59.12 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7456 34
rice
(Oryza sativa)
Liliopsida Os01g0842600 34
  • 59.59 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.4858 34
wheat
(Triticum aestivum)
Liliopsida Ta.1329 34
corn
(Zea mays)
Liliopsida Zm.5595 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 65 (a)
OneToOne
Species where no ortholog for AFG3L2 was found in the sources mined by GeneCards:
  • 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

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

Variants for AFG3L2 Gene

Sequence variations from dbSNP and Humsavar for AFG3L2 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs151344512 Spinocerebellar ataxia 28 (SCA28) [MIM:610246], Pathogenic 12,353,028(-) ACTCA(A/C)CCAGC reference, missense
rs151344513 Spinocerebellar ataxia 28 (SCA28) [MIM:610246], Pathogenic 12,340,220(-) AGTAA(C/T)TCAGA intron-variant, reference, missense
rs151344514 Spinocerebellar ataxia 28 (SCA28) [MIM:610246], Pathogenic 12,337,520(-) TTGGC(A/G/T)TGAAT upstream-variant-2KB, reference, missense
rs151344515 Spinocerebellar ataxia 28 (SCA28) [MIM:610246], Spinocerebellar ataxia 28 (SCA28) [MIM:610246], Pathogenic 12,337,519(-) TGGCA(C/G/T)GAATG upstream-variant-2KB, reference, missense
rs151344517 Spinocerebellar ataxia 28 (SCA28) [MIM:610246], Pathogenic 12,337,505(-) AGGTT(A/G)GGCAA upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
esv2758714 CNV loss 17122850
esv3641836 CNV loss 21293372
nsv1060808 CNV gain 25217958
nsv1063125 CNV loss 25217958
nsv576496 CNV gain 21841781
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

Human Gene Mutation Database (HGMD)
AFG3L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
spinocerebellar ataxia 28
  • spinocerebellar ataxia type 28
ataxia, spastic, 5, autosomal recessive
  • spastic ataxia 5, autosomal recessive
spastic ataxia 5
  • spastic ataxia 5, autosomal recessive
spinocerebellar ataxia type28
  • spinocerebellar ataxia 28
spastic ataxia
- elite association - COSMIC cancer census association via MalaCards

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, ECO:0000269 PubMed:24293060, ECO:0000269 PubMed:26677414}. 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 3 4 22 64
  2. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. (PMID: 14623864) Atorino L. … Casari G. (J. Cell Biol. 2003) 3 4 22 64
  3. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 4 64
  4. The m-AAA protease associated with neurodegeneration limits MCU activity in mitochondria. (PMID: 27642048) Koenig T. … Langer T. (Mol. Cell 2016) 3 4 64
  5. A Novel Missense Mutation in AFG3L2 Associated with Late Onset and Slow Progression of Spinocerebellar Ataxia Type 28. (PMID: 24293060) LAPbbe A.M. … Nolte D. (J. Mol. Neurosci. 2013) 3 4 64

Products for AFG3L2 Gene

Sources for AFG3L2 Gene

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