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

    Gene ID: 283373, updated on 10-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    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)

    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.

    mRNA and Protein(s)

    1. NM_173595.4NP_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:134259
      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:177269
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1161
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:108137
      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_017019183.2XP_016874672.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C isoform X1

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

      Conserved Domains (4) summary
      cd00204
      Location:73198
      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:116208
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1365
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:4776
      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_054371778.1XP_054227753.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C isoform X1

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