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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KIAA0319
KIAA0319
Chromosome 6 · 6p22.3
NCBI Gene: 9856Ensembl: ENSG00000137261.15HGNC: HGNC:21580UniProt: A0A087X0U9
61PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of axon extensionnegative regulation of axon extension involved in regenerationpositive regulation of SMAD protein signal transductionprotein bindingVertigovascular diseasenervous system benign neoplasmalcohol drinking
✦AI Summary

KIAA0319 is a dyslexia-associated gene that plays critical roles in cortical neuronal development and maturation. The gene is strongly associated with developmental dyslexia (reading disability), with genetic associations replicated across multiple populations and languages 123. Functionally, KIAA0319 is essential for proper cortical neurogenesis and neuronal maturation, as demonstrated by human embryonic stem cell models where KIAA0319 knockdown disrupted neuroepithelial cell differentiation and affected radial migration 1. Recent studies using human cortical organoids revealed that KIAA0319 knockout leads to smaller organoids with morphological abnormalities, disrupted neurogenesis, and impaired neuronal maturation, with neural progenitor cells favoring truncated radial glia fate over neuronal development 4. The protein appears to regulate a broader dyslexia-associated gene network involved in primary cilia formation, cortical organization, and neural network connectivity 4. Interestingly, while rodent knockdown studies suggested roles in neuronal migration, knockout mouse models showed normal cortical lamination and migration but displayed auditory processing deficits 56. KIAA0319 has also been identified as a potential therapeutic target for ischemic stroke through proteogenomic analyses 7.

Sources cited
1
KIAA0319 is associated with dyslexia and affects neuroepithelial cell differentiation and radial migration in human embryonic stem cells
PMID: 36016658
2
Meta-analysis showing association between KIAA0319 polymorphisms and dyslexia across populations
PMID: 31204720
3
KIAA0319 polymorphisms show population-specific associations with developmental dyslexia risk
PMID: 27464509
4
KIAA0319 knockout in human cortical organoids causes disrupted neurogenesis, impaired neuronal maturation, and dysregulation of dyslexia-associated gene networks
PMID: 41115623
5
KIAA0319 knockout mice show normal neuronal migration but display auditory processing deficits
PMID: 29045729
6
KIAA0319 knockout mice maintain normal radial migration and cortical lamination despite protein expression throughout brain development
PMID: 27510895
7
KIAA0319 identified as potential therapeutic target for ischemic stroke through proteogenomic analyses
PMID: 40304040
Disease Associationsⓘ21
vascular diseaseOpen Targets
0.28Weak
VertigoOpen Targets
0.28Weak
nervous system benign neoplasmOpen Targets
0.28Weak
alcohol drinkingOpen Targets
0.27Weak
dyslexiaOpen Targets
0.20Weak
ulcerative colitisOpen Targets
0.20Weak
complicationOpen Targets
0.20Weak
nervous system diseaseOpen Targets
0.19Weak
Herpes ZosterOpen Targets
0.19Weak
celiac diseaseOpen Targets
0.16Weak
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
hemolytic anemia due to adenylate kinase deficiencyOpen Targets
0.05Suggestive
Heinz body anemiaOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
delta-beta-thalassemiaOpen Targets
0.05Suggestive
Dyslexia 2UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ROBO1Protein interaction97%ACOT13Protein interaction95%TDP2Protein interaction94%DCDC2Protein interaction92%MRPL19Protein interaction79%GCFC2Protein interaction78%
Tissue Expression6 tissues
Brain
100%
Lung
3%
Bone Marrow
3%
Liver
1%
Heart
1%
Ovary
0%
Gene Interaction Network
Click a node to explore
KIAA0319ROBO1ACOT13TDP2DCDC2MRPL19GCFC2
PROTEIN STRUCTURE
Preparing viewer…
PDB2E7M · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.58–0.89]
RankingsWhere KIAA0319 stands among ~20K protein-coding genes
  • #7,569of 20,598
    Most Researched61
  • #7,910of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedKIAA0319
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Dyslexia associated gene
PMID: 36016658
Front Cell Dev Biol · 2022
1.00
2
Association between
PMID: 31204720
J Genet · 2019
0.90
3
Proteome-Wide Genetic Study in East Asians and Europeans Identified Multiple Therapeutic Targets for Ischemic Stroke.
PMID: 40304040
Stroke · 2025
0.80
4
KIAA0319 Plays a Critical Role in Cortical Neuronal Maturation and Synaptic Development Through a Dyslexia-Associated Gene Network.
PMID: 41115623
Biol Psychiatry · 2025
0.70
5
[Genetics of dyslexia].
PMID: 17094062
Z Kinder Jugendpsychiatr Psychother · 2006
0.60