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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ANKRD44
ankyrin repeat domain 44
Chromosome 2 · 2q33.1
NCBI Gene: 91526Ensembl: ENSG00000065413.20HGNC: HGNC:25259UniProt: A0A2R8Y7Y4
40PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingadolescent idiopathic scoliosisblood coagulation diseaseendocarditisneurodevelopmental disorder with hypotonia, seizures, and absent language
✦AI Summary

ANKRD44 (ankyrin repeat domain 44) functions as a regulatory subunit of protein phosphatase 6 (PP6), forming heterotrimeric complexes that regulate cellular phosphorylation events 1. The protein contains ankyrin repeat domains and associates with PP6 catalytic subunit through SAPS domain scaffold subunits, particularly PP6R1, which acts as a bridge between PP6 and ANKRD44 1. This PP6-ANKRD44 complex demonstrates specificity in cellular signaling, as knockdown of ANKRD44 enhances IκBε degradation in response to TNFα, indicating involvement in NF-κB pathway regulation 1. ANKRD44 shows disease relevance across multiple conditions. In colorectal cancer, it functions as a scaffold subunit within the PP6 complex that promotes cancer stem cell maintenance and proliferation 2. The gene exhibits methylation-driven expression changes in pancreatic cancer and shows sex-specific DNA methylation patterns in lung tissue that interact with smoking exposure 34. Additionally, ANKRD44 variants are associated with bone mineral density and lean mass through pleiotropic effects, potentially regulating PLCL1 expression 5. Clinical significance includes potential therapeutic targeting in cancer treatment, as PP6 complexes containing ANKRD44 represent druggable pathways for disrupting cancer progression and stem cell maintenance 2.

Sources cited
1
ANKRD44 functions as a regulatory subunit of PP6, forms heterotrimeric complexes, associates through PP6R1 scaffold, and regulates IκBε degradation
PMID: 18186651
2
ANKRD44 serves as PP6 scaffold subunit promoting cancer stem cell maintenance in colorectal cancer
PMID: 39014521
3
ANKRD44 identified as methylation-driven gene in pancreatic cancer
PMID: 40517592
4
ANKRD44 shows sex-specific DNA methylation patterns in lung tissue interacting with smoking
PMID: 32962511
5
ANKRD44 variants associated with bone mineral density and lean mass through pleiotropic effects
PMID: 34115876
Disease Associationsⓘ20
adolescent idiopathic scoliosisOpen Targets
0.30Weak
blood coagulation diseaseOpen Targets
0.28Weak
endocarditisOpen Targets
0.28Weak
neurodevelopmental disorder with hypotonia, seizures, and absent languageOpen Targets
0.27Weak
gastric ulcerOpen Targets
0.24Weak
hemorrhageOpen Targets
0.24Weak
mental or behavioural disorderOpen Targets
0.17Weak
hypertensionOpen Targets
0.16Weak
multiple myelomaOpen Targets
0.06Suggestive
anxiety disorderOpen Targets
0.06Suggestive
ThrombocytopeniaOpen Targets
0.06Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.05Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.05Suggestive
thrombocytopenia 4Open Targets
0.05Suggestive
schizophreniaOpen Targets
0.04Suggestive
bipolar disorderOpen Targets
0.04Suggestive
congenital amegakaryocytic thrombocytopenia 1Open Targets
0.04Suggestive
thrombocytopenia 7Open Targets
0.04Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.04Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.04Suggestive
Pathogenic Variants1
NM_001195144.2(ANKRD44):c.1317-1308T>CLikely pathogenic
Neurodevelopmental disorder with hypotonia, seizures, and absent language
★☆☆☆2023
View on ClinVar ↗
Related Genes
PPP6R1Protein interaction96%PPP6CProtein interaction95%PPP6R2Protein interaction91%PPP6R3Protein interaction90%USP10Protein interaction80%ANKRD28Protein interaction70%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
81%
Liver
26%
Heart
26%
Ovary
24%
Brain
18%
Gene Interaction Network
Click a node to explore
ANKRD44PPP6R1PPP6CPPP6R2PPP6R3USP10ANKRD28
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N8A2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.27 [0.20–0.36]
RankingsWhere ANKRD44 stands among ~20K protein-coding genes
  • #10,128of 20,598
    Most Researched40
  • #5,165of 5,498
    Most Pathogenic Variants1
  • #1,665of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedANKRD44
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A multi-phase approach using supervised algorithms and clinical models to generate high-accuracy signatures for pancreatic cancer.
PMID: 40517592
Comput Biol Med · 2025
1.00
2
Protein phosphatase 6 promotes stemness of colorectal cancer cells.
PMID: 39014521
Cancer Sci · 2024
0.90
3
RNA-seq reveals insights into molecular mechanisms of metabolic restoration via tryptophan supplementation in low birth weight piglet model.
PMID: 35552417
J Anim Sci · 2022
0.80
4
Identification of novel pleiotropic gene for bone mineral density and lean mass using the cFDR method.
PMID: 34115876
Ann Hum Genet · 2021
0.70
5
Sex-specific associations with DNA methylation in lung tissue demonstrate smoking interactions.
PMID: 32962511
Epigenetics · 2021
0.60