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    ADCK2 aarF domain containing kinase 2 [ Homo sapiens (human) ]

    Gene ID: 90956, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ADCK2provided by HGNC
    Official Full Name
    aarF domain containing kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:19039
    See related
    Ensembl:ENSG00000133597 AllianceGenome:HGNC:19039
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AARF
    Summary
    Predicted to enable ATP binding activity and protein serine/threonine kinase activity. Involved in regulation of ubiquinone biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 8.8), brain (RPKM 7.6) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See ADCK2 in Genome Data Viewer
    Location:
    7q34
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (140672945..140695110)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (141987120..142009286)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (140372745..140394910)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:140227087-140227701 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:140244505-140245005 Neighboring gene DENN domain containing 2A Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:140253137-140253867 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:140255121-140255621 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:140269202-140269702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:140269703-140270203 Neighboring gene Sharpr-MPRA regulatory region 5784 Neighboring gene Sharpr-MPRA regulatory region 9531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:140324769-140325360 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:140325951-140326542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:140327133-140327724 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:140327725-140328314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:140332981-140333481 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:140334787-140335394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:140335395-140336002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:140336003-140336609 Neighboring gene uncharacterized LOC105375535 Neighboring gene Sharpr-MPRA regulatory region 2153 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:140346933-140347108 Neighboring gene RNA, 7SL, cytoplasmic 771, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:140378691-140379191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:140389463-140389963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26784 Neighboring gene NDUFB2 antisense RNA 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit B2 Neighboring gene MPRA-validated peak6789 silencer Neighboring gene MPRA-validated peak6790 silencer Neighboring gene MPRA-validated peak6791 silencer Neighboring gene B-Raf proto-oncogene, serine/threonine kinase Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:140493623-140494822 Neighboring gene MPRA-validated peak6792 silencer Neighboring gene RNA, U6 small nuclear 85, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. Korkmaz E, et al. J Am Soc Nephrol, 2016 Jan. PMID 25967120, Free PMC Article
    2. ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency. Vázquez-Fonseca L, et al. J Clin Med, 2019 Sep 2. PMID 31480808, Free PMC Article
    3. A subcellular map of the human kinome. Zhang H, et al. Elife, 2021 May 14. PMID 33988507, Free PMC Article
    4. Cytoplasmic Metadherin (MTDH) provides survival advantage under conditions of stress by acting as RNA-binding protein. Meng X, et al. J Biol Chem, 2012 Feb 10. PMID 22199357, Free PMC Article
    5. Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization. Jin J, et al. Curr Biol, 2004 Aug 24. PMID 15324660

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ADCK4-related glomerulopathy is an important novel differential diagnosis in adolescents with SRNS/FSGS and/or CKD of unknown origin
      Title: ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC20727

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of ubiquinone biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized aarF domain-containing protein kinase 2
    Names
    putative ubiquinone biosynthesis protein AarF

    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_052853.4 → NP_443085.2  uncharacterized aarF domain-containing protein kinase 2

      See identical proteins and their annotated locations for NP_443085.2

      Status: VALIDATED

      Source sequence(s)
      AC006344, AC006452, AY302592
      Consensus CDS
      CCDS5861.1
      UniProtKB/Swiss-Prot
      Q7Z695, Q96CN6, Q9Y6T5
      UniProtKB/TrEMBL
      A4D1T6, C9JE15
      Related
      ENSP00000072869.4, ENST00000072869.9
      Conserved Domains (2) summary
      COG0661
      Location:134 → 618
      AarF; Predicted unusual protein kinase regulating ubiquinone biosynthesis, AarF/ABC1/UbiB family [Coenzyme transport and metabolism, Signal transduction mechanisms]
      cd13971
      Location:169 → 553
      ADCK2-like; aarF domain containing kinase 2 and similar proteins

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      140672945..140695110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716170.5 → XP_006716233.1  uncharacterized aarF domain-containing protein kinase 2 isoform X2

      UniProtKB/TrEMBL
      C9JE15
      Conserved Domains (2) summary
      COG0661
      Location:134 → 534
      AarF; Predicted unusual protein kinase regulating ubiquinone biosynthesis, AarF/ABC1/UbiB family [Coenzyme transport and metabolism, Signal transduction mechanisms]
      cl21453
      Location:169 → 469
      PKc_like; Protein Kinases, catalytic domain

    2. XM_011516675.4 → XP_011514977.1  uncharacterized aarF domain-containing protein kinase 2 isoform X1

      UniProtKB/TrEMBL
      C9JE15
      Conserved Domains (2) summary
      COG0661
      Location:134 → 586
      AarF; Predicted unusual protein kinase regulating ubiquinone biosynthesis, AarF/ABC1/UbiB family [Coenzyme transport and metabolism, Signal transduction mechanisms]
      cd13971
      Location:169 → 521
      ADCK2-like; aarF domain containing kinase 2 and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      141987120..142009286
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359307.1 → XP_054215282.1  uncharacterized aarF domain-containing protein kinase 2 isoform X2

    2. XM_054359306.1 → XP_054215281.1  uncharacterized aarF domain-containing protein kinase 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z695.1 GenPept UniProtKB/Swiss-Prot:Q7Z695

    Gene LinkOut

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