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

Gene ID: 90956, updated on 3-Apr-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. Predicted to be involved in protein phosphorylation. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
7q34
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (140672945..140695110)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (141987120..142009286)
105.20220307 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. 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
  4. 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
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article

See all (22) 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)

Genotypes

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 phosphorylation IEA
Inferred from Electronic Annotation
more info
  
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
  
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_2023_10

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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