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    AFG3L2 AFG3 like matrix AAA peptidase subunit 2 [ Homo sapiens (human) ]

    Gene ID: 10939, updated on 3-Dec-2024

    Summary

    Official Symbol
    AFG3L2provided by HGNC
    Official Full Name
    AFG3 like matrix AAA peptidase subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:315
    See related
    Ensembl:ENSG00000141385 MIM:604581; AllianceGenome:HGNC:315
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OPA12; SCA28; SPAX5
    Summary
    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]
    Expression
    Ubiquitous expression in duodenum (RPKM 38.9), heart (RPKM 35.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AFG3L2 in Genome Data Viewer
    Location:
    18p11.21
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (12328944..12377227, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (12491960..12540204, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (12328943..12377226, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12258258-12258758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9307 Neighboring gene cell death inducing DFFA like effector a Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12276271-12276894 Neighboring gene VISTA enhancer hs1751 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12287027-12288022 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12288023-12289016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12289267-12290030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9310 Neighboring gene RNA, U6 small nuclear 170, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12318543-12319043 Neighboring gene tubulin beta 6 class V Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12327565-12328414 Neighboring gene uncharacterized LOC107985154 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12334195-12335050 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12335909-12336764 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:12377463-12377994 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:12377995-12378524 Neighboring gene Sharpr-MPRA regulatory region 1882 Neighboring gene hESC enhancers GRCh37_chr18:12407327-12407988 and GRCh37_chr18:12407989-12408648 Neighboring gene RNA, U7 small nuclear 129 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12415673-12416623 Neighboring gene PRELI domain containing 3A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12431759-12432277

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of AFG3 ATPase family gene 3-like 2 (AFG3L2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ25993

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metallopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables unfolded protein binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium import into the mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to glutathione IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cristae formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane protein proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitochondrial calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial fusion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial protein quality control IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nerve development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular junction development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein autoprocessing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein processing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of calcium import into the mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in righting reflex IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of m-AAA complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of m-AAA complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mitochondrial inner membrane m-AAA protease component AFG3L2
    Names
    AFG3 ATPase family gene 3-like 2
    AFG3 ATPase family member 3-like 2
    AFG3 like AAA ATPase 2
    AFG3-like protein 2
    ATPase family gene 3, yeast
    paraplegin-like protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023361.1 RefSeqGene

      Range
      5001..53333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_666

    mRNA and Protein(s)

    1. NM_006796.3NP_006787.2  mitochondrial inner membrane m-AAA protease component AFG3L2

      See identical proteins and their annotated locations for NP_006787.2

      Status: REVIEWED

      Source sequence(s)
      BC024282, BU786821, BX091241, DN993083
      Consensus CDS
      CCDS11859.1
      UniProtKB/Swiss-Prot
      Q6P1L0, Q9Y4W6
      UniProtKB/TrEMBL
      A0A8I5KVV1
      Related
      ENSP00000269143.2, ENST00000269143.8
      Conserved Domains (2) summary
      pfam06480
      Location:146242
      FtsH_ext; FtsH Extracellular
      cl27568
      Location:253746
      TIP49; TIP49 C-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      12328944..12377227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525601.4XP_011523903.1  mitochondrial inner membrane m-AAA protease component AFG3L2 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KVV1
      Conserved Domains (4) summary
      TIGR01241
      Location:253679
      FtsH_fam; ATP-dependent metalloprotease FtsH
      pfam00004
      Location:345476
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam01434
      Location:562677
      Peptidase_M41; Peptidase family M41
      pfam06480
      Location:146242
      FtsH_ext; FtsH Extracellular

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      12491960..12540204 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318163.1XP_054174138.1  mitochondrial inner membrane m-AAA protease component AFG3L2 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KVV1