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

Gene ID: 283373, updated on 19-Sep-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 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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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

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