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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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AHNAK2
AHNAK nucleoprotein 2
Chromosome 14 · 14q32.33
NCBI Gene: 113146Ensembl: ENSG00000185567.7HGNC: HGNC:20125UniProt: Q8IVF2
88PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosolplasma membranecytoplasmneurodegenerative diseasesystemic lupus erythematosusrheumatoid arthritissystemic scleroderma
✦AI Summary

AHNAK2 is a large nucleoprotein (>600 kDa) with ~90% sequence homology to AHNAK, localized to the plasma membrane, cytosol, cytoplasm, nucleus, and sarcolemma 1. It functions in calcium channel modulation and membrane repair 1, with evidence of involvement in calcium signaling 2. Mechanistically, AHNAK2 regulates multiple oncogenic signaling pathways including AKT/GSK-3β, PI3K/AKT, ERK, MAPK, and Wnt, while promoting epithelial-mesenchymal transition (EMT) and cancer stemness 134. In ccRCC, hypoxia-inducible factor-1α (HIF1α) drives AHNAK2 upregulation, enhancing tumor progression 5. In pancreatic cancer, cytoplasmic AHNAK2 colocalizes with Cortactin at filopodia to enhance cellular invasion 6. ABNORMAL EXPRESSION is associated with multiple malignancies. In colorectal cancer, elevated AHNAK2 confers 5-fluorouracil resistance via AKT/GSK-3β activation 3. In thyroid and renal cell carcinomas, upregulation correlates with aggressive clinicopathological features, poor prognosis, and shorter recurrence-free survival 754. AHNAK2 plasma levels show diagnostic potential for pancreatic cancer (83.33% specificity, 86.67% sensitivity at 421.47 ng/ml) 6. Genetically, AHNAK2 appears as a candidate gene for neurodevelopmental disorders; compound heterozygous missense variants were identified in a patient with cardio-facio-cutaneous-like phenotype 28.

Sources cited
1
AHNAK2 molecular weight, structural homology with AHNAK, and roles in calcium channel modulation, membrane repair, and tumor signaling pathways
PMID: 38033502
2
AHNAK2 confers 5-FU resistance in colorectal cancer via AKT/GSK-3β signaling pathway activation
PMID: 40382757
3
AHNAK2 expression in brain tissue and role in calcium signaling; compound heterozygous variants associated with neurodevelopmental disorder and epilepsy
PMID: 35789128
4
AHNAK2 upregulation in ccRCC correlates with poor survival; HIF1α-dependent hypoxic upregulation drives EMT and cancer stemness
PMID: 28435451
5
AHNAK2 diagnostic biomarker for pancreatic cancer; cytoplasmic AHNAK2-Cortactin colocalization promotes cellular invasion
PMID: 39849106
6
AHNAK2 upregulation in BRAFV600E mutant papillary thyroid carcinomas; correlation with aggressive features and recurrence
PMID: 39193983
7
AHNAK2 upregulation in thyroid cancer associated with tumor size, lymph node metastasis, disease stage; promotion through PI3K/AKT pathway
PMID: 36089788
8
AHNAK2 identified as candidate gene for human disease in genetic disease screening study
PMID: 28600779
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.33Weak
systemic lupus erythematosusOpen Targets
0.32Weak
rheumatoid arthritisOpen Targets
0.27Weak
systemic sclerodermaOpen Targets
0.21Weak
hypothyroidismOpen Targets
0.21Weak
male infertilityOpen Targets
0.18Weak
Familial paroxysmal ataxiaOpen Targets
0.12Weak
hereditary episodic ataxiaOpen Targets
0.12Weak
migraine disorderOpen Targets
0.12Weak
DysmetriaOpen Targets
0.11Weak
Enhancement of the C-reflexOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
papillary thyroid carcinomaOpen Targets
0.10Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
pancreatic adenocarcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
adenocarcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CLK1Shared pathway100%HNRNPH2Shared pathway100%RBM12Shared pathway100%MBNL2Shared pathway100%ESRP1Shared pathway100%RBM38Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
40%
Heart
37%
Liver
26%
Ovary
23%
Bone Marrow
15%
Gene Interaction Network
Click a node to explore
AHNAK2CLK1HNRNPH2RBM12MBNL2ESRP1RBM38
PROTEIN STRUCTURE
Preparing viewer…
PDB4CN0 · 1.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.43–0.92]
RankingsWhere AHNAK2 stands among ~20K protein-coding genes
  • #5,395of 20,598
    Most Researched88
  • #8,393of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedAHNAK2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
AHNAKs roles in physiology and malignant tumors.
PMID: 38033502
Front Oncol · 2023
0.90
3
Gene Expression Profiles of AHNAK2, DCSTAMP, FN1, and TERT Correlate With Mutational Status and Recurrence in Papillary Thyroid Carcinoma.
PMID: 39193983
Genes Chromosomes Cancer · 2024
0.80
4
AHNAK2 confers 5-fluorouracil resistance in colorectal cancer via activation of the AKT/GSK-3β signaling axis.
PMID: 40382757
Clin Exp Med · 2025
0.70
5
AHNAK2: a potential diagnostic biomarker for pancreatic cancer related to cellular motility.
PMID: 39849106
Sci Rep · 2025
0.60