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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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AKNA
AT-hook transcription factor
Chromosome 9 · 9q32
NCBI Gene: 80709Ensembl: ENSG00000106948.18HGNC: HGNC:24108UniProt: Q64FY1
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of transcription by RNA polymerase IIcentrosomefibrillar centerliver diseaseAbnormality of the liveralcohol drinkingAbnormality of the skeletal system
✦AI Summary

AKNA (AT-hook transcription factor) is a multifunctional centrosomal protein encoded by a single gene on chromosome 9 that generates multiple transcript and protein isoforms through alternative splicing, promoter usage, and polyadenylation 1. Its primary function involves regulating neurogenesis through centrosomal microtubule organization. AKNA localizes to subdistal appendages of mother centrioles in neural stem cells and basal progenitors, where it promotes microtubule nucleation and growth, thereby mediating cell delamination during subventricular zone formation and regulating exit from this zone 2. This microtubule-organizing function extends to epithelial-to-mesenchymal transition in other cell types 2. AKNA also functions as a transcription factor activating CD40 and CD40L expression on lymphocytes 1, and serves as a negative regulator of inflammatory processes 3. Disease associations include primary Sjögren's syndrome, where the AKNA -1372C>A polymorphism A/A genotype increases risk 4, and knee osteoarthritis, where rs10817595 polymorphism correlates with increased susceptibility in Han Chinese populations 5. The precise mechanistic relationship between AKNA's dual roles as microtubule organizer and transcription factor remains unclear and requires further investigation.

Sources cited
1
AKNA localizes at subdistal appendages of centrioles and organizes centrosomal microtubules to promote neural cell delamination and regulate subventricular zone retention
PMID: 30787442
2
AKNA is encoded by a single 61-kb gene on chromosome 9q32 generating multiple transcripts and protein isoforms, and regulates CD40/CD40L expression on lymphocytes
PMID: 15869410
3
AKNA functions as a negative regulator of inflammation and is associated with autoimmune/inflammatory diseases, cancer susceptibility, and neurogenesis
PMID: 34827707
4
AKNA -1372C>A polymorphism A/A genotype is associated with increased risk of primary Sjögren's syndrome
PMID: 28484714
5
AKNA rs10817595 polymorphism is significantly associated with knee osteoarthritis risk in Han Chinese populations
PMID: 32460535
Disease Associationsⓘ20
liver diseaseOpen Targets
0.47Moderate
Abnormality of the liverOpen Targets
0.40Moderate
alcohol drinkingOpen Targets
0.29Weak
Abnormality of the skeletal systemOpen Targets
0.29Weak
diabetes mellitusOpen Targets
0.09Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.06Suggestive
metabolic syndromeOpen Targets
0.05Suggestive
immunodeficiency 53Open Targets
0.05Suggestive
isolated agammaglobulinemiaOpen Targets
0.05Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.05Suggestive
immunodeficiency 51Open Targets
0.05Suggestive
Recurrent infection due to specific granule deficiencyOpen Targets
0.04Suggestive
primary ciliary dyskinesiaOpen Targets
0.04Suggestive
combined immunodeficiency due to DOCK8 deficiencyOpen Targets
0.04Suggestive
combined immunodeficiency due to ZAP70 deficiencyOpen Targets
0.04Suggestive
Immunodeficiency by defective expression of HLA class 2Open Targets
0.04Suggestive
combined immunodeficiency due to moesin deficiencyOpen Targets
0.04Suggestive
idiopathic CD4 lymphocytopeniaOpen Targets
0.04Suggestive
combined immunodeficiency due to STK4 deficiencyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NLRP11Shared pathway50%ARMH4Shared pathway50%NLRP8Shared pathway50%NLRP13Shared pathway50%NLRP4Shared pathway33%EPB41L5Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
74%
Ovary
48%
Liver
31%
Heart
10%
Brain
7%
Gene Interaction Network
Click a node to explore
AKNANLRP11ARMH4NLRP8NLRP13NLRP4EPB41L5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q64FY1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.51 [0.42–0.63]
RankingsWhere AKNA stands among ~20K protein-coding genes
  • #11,658of 20,598
    Most Researched31
  • #4,469of 17,882
    Most Constrained (LOEUF)0.63 · top quartile
Genes detectedAKNA
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The Integrative Human Microbiome Project.
PMID: 31142853
Nature · 2019
1.00
2
Longitudinal multi-omics of host-microbe dynamics in prediabetes.
PMID: 31142858
Nature · 2019
0.90
3
Longitudinal profiling of the microbiome at four body sites reveals core stability and individualized dynamics during health and disease.
PMID: 38479397
Cell Host Microbe · 2024
0.80
4
The centrosome protein AKNA regulates neurogenesis via microtubule organization.
PMID: 30787442
Nature · 2019
0.70
5
PMID: 28484714
Biomed Res Int · 2017
0.60