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    Afg2a AFG2 AAA ATPase homolog A [ Rattus norvegicus (Norway rat) ]

    Gene ID: 361935, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Afg2aprovided by RGD
    Official Full Name
    AFG2 AAA ATPase homolog Aprovided by RGD
    Primary source
    RGD:1310478
    See related
    EnsemblRapid:ENSRNOG00000017462 AllianceGenome:RGD:1310478
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Spata5
    Summary
    Predicted to enable ATP hydrolysis activity and preribosome binding activity. Predicted to be involved in brain development and ribosomal large subunit biogenesis. Predicted to be located in spindle. Predicted to be active in cytoplasm. Orthologous to human AFG2A (AFG2 AAA ATPase homolog A). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Testes (RPKM 117.2), Thymus (RPKM 83.8) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Afg2a in Genome Data Viewer
    Location:
    2q25
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 2 NC_086020.1 (122234619..122425808)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 2 NC_051337.1 (120306417..120497707)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 2 NC_005101.4 (124149872..124341138)

    Chromosome 2 - NC_086020.1Genomic Context describing neighboring genes Neighboring gene Bardet-Biedl syndrome 12 Neighboring gene fibroblast growth factor 2 Neighboring gene nudix hydrolase 6 Neighboring gene small nucleolar RNA SNORA51 Neighboring gene 60S ribosomal protein L7a pseudogene Neighboring gene sprouty RTK signaling antagonist 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency. Puusepp S, et al. Eur J Hum Genet, 2018 Mar. PMID 29343804, Free PMC Article
    2. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Tanaka AJ, et al. Am J Hum Genet, 2015 Sep 3. PMID 26299366, Free PMC Article
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SPATA5-deficient neurons had a significant imbalance in the mitochondrial fusion-fission rate, impaired energy production and short axons.
      Title: Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables preribosome binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in brain development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ribosomal large subunit biogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosomal large subunit biogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    NOT located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in spindle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ATPase family gene 2 protein homolog A
    Names
    ATPase family protein 2 homolog
    ribosome biogenesis protein SPATA5
    spermatogenesis associated 5
    spermatogenesis-associated protein 5
    NP_001402011.1
    XP_008759155.1
    XP_008759156.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001415082.1 → NP_001402011.1  ATPase family gene 2 protein homolog A

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000002
      UniProtKB/TrEMBL
      A0A8I6A2A6
      Related
      ENSRNOP00000071455.2, ENSRNOT00000078650.3

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086020.1 Reference GRCr8

      Range
      122234619..122425808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_008760933.4 → XP_008759155.1  ATPase family gene 2 protein homolog A isoform X1

      UniProtKB/TrEMBL
      A6II14, D4A6T1
      Related
      ENSRNOP00000086493.2, ENSRNOT00000119204.2
      Conserved Domains (3) summary
      COG0464
      Location:369 → 881
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
      pfam00004
      Location:663 → 795
      AAA; ATPase family associated with various cellular activities (AAA)
      cl21693
      Location:63 → 131
      CDC48_N; Cell division protein 48 (CDC48), N-terminal domain

    2. XM_008760934.3 → XP_008759156.1  ATPase family gene 2 protein homolog A isoform X2

      UniProtKB/TrEMBL
      A0A0G2K0I1, A6II14, D4A6T1
      Related
      ENSRNOP00000023584.6, ENSRNOT00000023584.8
      Conserved Domains (3) summary
      COG0464
      Location:370 → 835
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
      pfam00004
      Location:664 → 796
      AAA; ATPase family associated with various cellular activities (AAA)
      cl21693
      Location:64 → 132
      CDC48_N; Cell division protein 48 (CDC48), N-terminal domain

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001108549.2: Suppressed sequence

      Description
      NM_001108549.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version

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