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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ANKRD52
ankyrin repeat domain 52
Chromosome 12 · 12q13.3
NCBI Gene: 283373Ensembl: ENSG00000139645.11HGNC: HGNC:26614UniProt: B3KWN0
59PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingneurodegenerative diseaseneoplasmIsolated anophthalmia - microphthalmiamicrophthalmia
✦AI Summary

ANKRD52 is a regulatory subunit of protein phosphatase 6 (PP6) holoenzyme that functions in substrate recognition and phosphoprotein dephosphorylation 1. As a structural component of the PP6 complex alongside catalytic and scaffold subunits, ANKRD52 mediates dephosphorylation of signaling proteins including PAK1, thereby suppressing cell mobility and cancer metastasis 12. The ANKRD52 gene is subject to transcriptional regulation through multiple mechanisms: TAZ negatively inhibits ANKRD52 promoter activity in lung cancer 1, while circular intronic ANKRD52 RNA (ci-ankrd52) positively regulates its parent gene expression by enhancing Pol II transcriptional elongation 34. ANKRD52 functions as a tumor suppressor—reduced expression associates with late-stage lung cancer and poor prognosis across multiple cancer types, particularly kidney chr12 cancer 1. Conversely, ANKRD52 is targeted for downregulation by miR-423-5p and miR-17-92 cluster, with decreased expression correlating with advanced hepatocellular and other cancers 56. ANKRD52 expression correlates with immune cell infiltration and tumor microenvironment composition, suggesting potential utility as an immunotherapy biomarker 7. These findings position ANKRD52 as a PP6-dependent tumor suppressor with implications for cancer prognosis and therapeutic targeting.

Sources cited
1
ANKRD52 is a regulatory subunit of PP6 holoenzyme that suppresses PAK1 phosphorylation and cell mobility; functions as tumor suppressor in lung cancer with reduced expression in late-stage disease
PMID: 33096142
2
Circular intronic ANKRD52 RNA (ci-ankrd52) acts as positive regulator of Pol II transcription and parent gene expression
PMID: 24035497
3
ci-ankrd52 forms R-loops and undergoes RNase H1-mediated degradation; ci-ankrd52 removal facilitates transcriptional elongation
PMID: 34453665
4
ANKRD52 expression is elevated in 24 tumor types, associates with poor prognosis especially in kidney chromophobe cancer, and correlates with immune cell infiltration and tumor microenvironment signatures
PMID: 38296907
5
ANKRD52 is a direct target of miR-423-5p; downregulated in miR-423-5p-overexpressing HCC cells and associated with poor prognosis in TCGA-LIHC cohort
PMID: 40993657
6
ANKRD52 expression negatively correlates with miR-17-92 cluster in cancer cell lines
PMID: 29935344
7
ANKRD52 is a regulatory subunit (PP6R) of PP6 holoenzyme; PP6c-PP6R3 complex regulates cancer stem cell markers in colorectal cancer
PMID: 39014521
8
ANKRD52 is a novel mutation identified in canine bladder cancer with transcriptional alterations paralleling human bladder cancer
PMID: 28052524
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.31Weak
neoplasmOpen Targets
0.08Suggestive
Isolated anophthalmia - microphthalmiaOpen Targets
0.07Suggestive
microphthalmiaOpen Targets
0.07Suggestive
psoriasisOpen Targets
0.06Suggestive
Microphthalmia - ankyloblepharon - intellectual disabilityOpen Targets
0.05Suggestive
nanophthalmiaOpen Targets
0.05Suggestive
isolated microphthalmia 7Open Targets
0.05Suggestive
nanophthalmos 2Open Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
coronary artery diseaseOpen Targets
0.05Suggestive
microphthalmia, isolated, with colobomaOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
premature ovarian failure 12Open Targets
0.04Suggestive
primary ovarian insufficiencyOpen Targets
0.04Suggestive
microphthalmia, isolated, with coloboma 10Open Targets
0.04Suggestive
microphthalmia, isolated, with coloboma 5Open Targets
0.04Suggestive
microphthalmia, isolated, with coloboma 7Open Targets
0.04Suggestive
anophthalmia plus syndromeOpen Targets
0.03Suggestive
psoriasis vulgarisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPP6CProtein interaction97%PPP6R2Protein interaction94%PPP6R1Protein interaction93%PPP6R3Protein interaction83%ANKRD28Protein interaction74%
Tissue Expression6 tissues
Ovary
100%
Heart
89%
Bone Marrow
88%
Lung
81%
Liver
56%
Brain
39%
Gene Interaction Network
Click a node to explore
ANKRD52PPP6CPPP6R2PPP6R1PPP6R3ANKRD28
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NB46
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.12Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.06 [0.04–0.12]
RankingsWhere ANKRD52 stands among ~20K protein-coding genes
  • #7,732of 20,598
    Most Researched59
  • #115of 17,882
    Most Constrained (LOEUF)0.12 · top 1%
Genes detectedANKRD52
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Circular intronic long noncoding RNAs.
PMID: 24035497
Mol Cell · 2013
1.00
2
Clinical and Immunological Significance of ANKRD52 in Pan-Cancer.
PMID: 38296907
Biochem Genet · 2024
0.90
3
TAZ negatively regulates the novel tumor suppressor ANKRD52 and promotes PAK1 dephosphorylation in lung adenocarcinomas.
PMID: 33096142
Biochim Biophys Acta Mol Cell Res · 2021
0.80
4
Proteomic profiling identifies miR-423-5p as a modulator of oncogenic metabolism in HCC.
PMID: 40993657
J Transl Med · 2025
0.70
5
Cross-species analysis of the canine and human bladder cancer transcriptome and exome.
PMID: 28052524
Genes Chromosomes Cancer · 2017
0.60