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    ANKRD52 ankyrin repeat domain 52 [ Homo sapiens (human) ]

    Gene ID: 283373, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ANKRD52provided by HGNC
    Official Full Name
    ankyrin repeat domain 52provided by HGNC
    Primary source
    HGNC:HGNC:26614
    See related
    Ensembl:ENSG00000139645 MIM:620862; AllianceGenome:HGNC:26614
    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
    ARSC; ANKRD33
    Expression
    Ubiquitous expression in brain (RPKM 7.6), adrenal (RPKM 6.8) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See ANKRD52 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56237807..56258384, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56205432..56226014, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56631591..56652168, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4550 Neighboring gene ring finger protein 41 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6481 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56615664-56616598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56616599-56617532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4551 Neighboring gene nucleic acid binding protein 2 Neighboring gene solute carrier family 39 member 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:56630689-56630907 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29670 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29671 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56650178-56651170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4554 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29674 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29675 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6485 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56660797-56661296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6486 Neighboring gene Sharpr-MPRA regulatory region 15563 Neighboring gene coenzyme Q10A Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29678 Neighboring gene citrate synthase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56693295-56693812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4556 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4557

    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. TAZ negatively regulates the novel tumor suppressor ANKRD52 and promotes PAK1 dephosphorylation in lung adenocarcinomas. Lee TF, et al. Biochim Biophys Acta Mol Cell Res, 2021 Feb. PMID 33096142
    2. A PP6-ASK3 Module Coordinates the Bidirectional Cell Volume Regulation under Osmotic Stress. Watanabe K, et al. Cell Rep, 2018 Mar 13. PMID 29539411
    3. Cells recognize osmotic stress through liquid-liquid phase separation lubricated with poly(ADP-ribose). Watanabe K, et al. Nat Commun, 2021 Mar 1. PMID 33649309, Free PMC Article
    4. Protein phosphatase 6 regulatory subunits composed of ankyrin repeat domains. Stefansson B, et al. Biochemistry, 2008 Feb 5. PMID 18186651
    5. Protein phosphatase 6 regulates mitotic spindle formation by controlling the T-loop phosphorylation state of Aurora A bound to its activator TPX2. Zeng K, et al. J Cell Biol, 2010 Dec 27. PMID 21187329, Free PMC Article

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TAZ negatively regulates the novel tumor suppressor ANKRD52 and promotes PAK1 dephosphorylation in lung adenocarcinomas.
      Title: TAZ negatively regulates the novel tumor suppressor ANKRD52 and promotes PAK1 dephosphorylation in lung adenocarcinomas.
    2. ANKRD52 condensates are not completely colocalized with ASK3 condensates, but they move around and grow while sharing their phase boundaries.
      Title: Cells recognize osmotic stress through liquid-liquid phase separation lubricated with poly(ADP-ribose).
    3. ANKRD52 mediates the PP6-ASK3 interaction and, consequently, ASK3 inactivation under hyperosmotic stress.
      Title: A PP6-ASK3 Module Coordinates the Bidirectional Cell Volume Regulation under Osmotic Stress.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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

    • FLJ34236

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C
    Names
    CVWG5837
    PP6-ARS-C
    ankyrin repeat domain 33
    ankyrin repeat domain-containing protein 52
    protein phosphatase 6 ankyrin repeat subunit C
    serine/threonine-protein phosphatase 6 regulatory subunit ARS-C

    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_173595.4 → NP_775866.2  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C

      See identical proteins and their annotated locations for NP_775866.2

      Status: VALIDATED

      Source sequence(s)
      AC073896, AK125379, DR002390
      Consensus CDS
      CCDS44920.1
      UniProtKB/Swiss-Prot
      A6NE79, B1Q2K2, Q8NB46
      Related
      ENSP00000267116.7, ENST00000267116.8
      Conserved Domains (4) summary
      cd00204
      Location:134 → 259
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:177 → 269
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:11 → 61
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:108 → 137
      ANK; ANK repeat [structural motif]

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      56237807..56258384 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019183.2 → XP_016874672.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C isoform X1

    2. XM_011538197.3 → XP_011536499.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C isoform X2

      Conserved Domains (4) summary
      cd00204
      Location:73 → 198
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:116 → 208
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:13 → 65
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:47 → 76
      ANK; ANK repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      56205432..56226014 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371778.1 → XP_054227753.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C isoform X1

    2. XM_054371779.1 → XP_054227754.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NB46.3 GenPept UniProtKB/Swiss-Prot:Q8NB46

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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