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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ANKRD2
ankyrin repeat domain 2
Chromosome 10 · 10q24.2
NCBI Gene: 26287Ensembl: ENSG00000165887.12HGNC: HGNC:495UniProt: A0A0A0MRN9
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolnucleusnegative regulation of transcription by RNA polymerase IInegative regulation of myoblast differentiationoral squamous cell carcinomaosteosarcomahead and neck squamous cell carcinomacancer
✦AI Summary

ANKRD2 is a muscle-enriched mechanosensor that functions as a stress-responsive link between the sarcomere and nucleus in striated muscle. Preferentially expressed in slow skeletal muscle fibers, ANKRD2 exists as multiple isoforms (360, 333, 327, and 300 amino acids), with the 333 aa isoform being predominant 1. The protein localizes to both cytoplasm and nucleus, with dynamic subcellular redistribution during differentiation and stress 12. Mechanistically, ANKRD2 serves dual functions: structurally, it associates with titin in the Z-disc and intercalated disks as part of a stretch-sensing complex 32; functionally, it transduces mechanical and oxidative stress signals into transcriptional responses by binding transcription factors including p50, p53, and YB-1 34. ANKRD2 acts as a potent repressor of NF-κB-mediated inflammatory responses through p50 interaction, with this function requiring Akt2-mediated phosphorylation 4. Its expression increases with passive stretch and slow muscle fiber phenotype 5. In disease contexts, ANKRD2 is implicated in muscular laminopathies, where it interacts with lamin A; mutated lamins alter ANKRD2 nuclear import dynamics, affecting oxidative stress response 6. Emerging evidence reveals ANKRD2 involvement in osteosarcoma tumorigenesis, where knockdown enhances chemotherapeutic sensitivity by impairing PI3K/Akt and ERK1/2 pathways 7.

Sources cited
1
ANKRD2 comprises four isoforms preferentially expressed in slow skeletal muscle fibers with dynamic nuclear and cytoplasmic localization
PMID: 27393496
2
ANKRD2 localizes to sarcomere, nucleus, and intercalated disks in cardiac tissue with role in transcriptional regulation and myofibrillar assembly
PMID: 25585647
3
ANKRD2 binds lamin A and participates in mechanotransduction and oxidative stress response; mutated lamins alter ANKRD2 nuclear import in muscular laminopathies
PMID: 31428229
4
ANKRD2 knockdown impairs PI3K/Akt and ERK1/2 pathways and enhances chemotherapeutic sensitivity in osteosarcoma cells
PMID: 40004199
5
ANKRD2 links sarcomere to nucleus through interactions with Z-disc protein telethonin and transcription factors including p53, p50, YB-1, and PML
PMID: 15136035
6
ANKRD2 expression correlates with slow muscle phenotype and increases with passive stretch, independent of hypertrophic response
PMID: 15677738
7
ANKRD2 represses NF-κB-mediated inflammatory responses through p50 interaction in an Akt2-phosphorylation-dependent manner during myogenic differentiation
PMID: 24434510
Disease Associationsⓘ20
oral squamous cell carcinomaOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.07Suggestive
head and neck squamous cell carcinomaOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
hypertrophic cardiomyopathyOpen Targets
0.03Suggestive
pleural empyemaOpen Targets
0.02Suggestive
pneumothoraxOpen Targets
0.02Suggestive
congenital myopathyOpen Targets
0.02Suggestive
amyotrophic lateral sclerosisOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
aneurysmOpen Targets
0.02Suggestive
rhabdomyosarcomaOpen Targets
0.02Suggestive
oxyphilic adenomaOpen Targets
0.02Suggestive
muscular dystrophyOpen Targets
0.01Suggestive
spinal muscular atrophyOpen Targets
0.01Suggestive
renal cell carcinomaOpen Targets
0.01Suggestive
kidney oncocytomaOpen Targets
0.01Suggestive
HyperglycemiaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TTNProtein interaction97%TCAPProtein interaction94%MYPNProtein interaction75%YBX1Protein interaction75%CSRP3Protein interaction74%LDB3Protein interaction72%
Tissue Expression6 tissues
Heart
100%
Lung
1%
Brain
1%
Liver
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ANKRD2TTNTCAPMYPNYBX1CSRP3LDB3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5T457
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.43LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.08 [0.83–1.43]
RankingsWhere ANKRD2 stands among ~20K protein-coding genes
  • #11,285of 20,598
    Most Researched33
  • #14,688of 17,882
    Most Constrained (LOEUF)1.43
Genes detectedANKRD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Differential expression and localization of Ankrd2 isoforms in human skeletal and cardiac muscles.
PMID: 27393496
Histochem Cell Biol · 2016
1.00
2
Profiling of skeletal muscle Ankrd2 protein in human cardiac tissue and neonatal rat cardiomyocytes.
PMID: 25585647
Histochem Cell Biol · 2015
0.90
3
Ankrd2 in Mechanotransduction and Oxidative Stress Response in Skeletal Muscle: New Cues for the Pathogenesis of Muscular Laminopathies.
PMID: 31428229
Oxid Med Cell Longev · 2019
0.80
4
Ectopic Expression of Ankrd2 Affects Proliferation, Motility and Clonogenic Potential of Human Osteosarcoma Cells.
PMID: 33419058
Cancers (Basel) · 2021
0.70
5
PMID: 40004199
Int J Mol Sci · 2025
0.60