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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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KIAA1549
KIAA1549
Chromosome 7 Β· 7q34
NCBI Gene: 57670Ensembl: ENSG00000122778.11HGNC: HGNC:22219UniProt: Q9HCM3
47PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingphotoreceptor connecting ciliumplasma membraneciliumretinitis pigmentosa 86cancerretinitis pigmentosaRetinal dystrophy
✦AI Summary

KIAA1549 is a gene located on chromosome 7 with emerging roles in both neural development and photoreceptor function. According to UniProt annotations, it may play a role in photoreceptor function and localizes to the photoreceptor connecting cilium and plasma membrane, suggesting involvement in sensory cell maintenance 1. However, KIAA1549's primary clinical significance derives from its involvement in pediatric brain tumors. The gene is most notable as a fusion partner with BRAF in pilocytic astrocytomas, the most common pediatric brain tumor 2. The KIAA1549-BRAF fusion is the most frequently identified genetic alteration in these tumors, occurring in approximately 45% of low-grade pediatric astrocytoma cases 3. This fusion aberration activates the RAS/MAPK signaling pathway, driving tumor growth 4. The KIAA1549-BRAF fusion has become clinically important for treatment stratification: patients with this fusion are responsive to MEK inhibitors like selumetinib and type II RAF inhibitors like tovorafenib, which have demonstrated improved outcomes compared to standard chemotherapy 5, 6. Additionally, KIAA1549 mutations have been identified as candidate disease genes in retinal dystrophy, supporting its role in photoreceptor biology 1.

Sources cited
1
KIAA1549 identified as a novel candidate disease gene in retinal dystrophy
PMID: 23105016
2
KIAA1549-BRAF fusions are the most commonly identified alteration in pilocytic astrocytomas
PMID: 26948364
3
KIAA1549-BRAF fusion detected in 45% of low-grade pediatric astrocytoma samples
PMID: 24532263
4
KIAA1549-BRAF fusion is a driver alteration that activates the RAS/MAPK pathway in pediatric low-grade gliomas
PMID: 32289278
5
Selumetinib (MEK inhibitor) is active in pilocytic astrocytomas harboring KIAA1549-BRAF fusions
PMID: 31151904
6
Tovorafenib (type II RAF inhibitor) shows promising activity in BRAF-altered pLGG including KIAA1549-BRAF fusions
PMID: 38291372
Disease Associationsβ“˜21
retinitis pigmentosa 86Open Targets
0.60Moderate
cancerOpen Targets
0.54Moderate
retinitis pigmentosaOpen Targets
0.52Moderate
Retinal dystrophyOpen Targets
0.38Weak
retinopathyOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
alcohol drinkingOpen Targets
0.35Weak
ovarian neoplasmOpen Targets
0.32Weak
sinusitisOpen Targets
0.31Weak
pneumonitisOpen Targets
0.27Weak
premature birthOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
pilocytic astrocytomaOpen Targets
0.19Weak
esophageal squamous cell carcinomaOpen Targets
0.19Weak
gliomaOpen Targets
0.19Weak
pilomyxoid astrocytomaOpen Targets
0.19Weak
astrocytomaOpen Targets
0.19Weak
melanomaOpen Targets
0.19Weak
mixed neuronal-glial tumorOpen Targets
0.19Weak
lung carcinomaOpen Targets
0.19Weak
Retinitis pigmentosa 86UniProt
Pathogenic Variants8
NM_001164665.2(KIAA1549):c.3993del (p.Gln1332fs)Pathogenic
not provided|Retinitis pigmentosa
β˜…β˜…β˜†β˜†2020β†’ Residue 1332
NM_001164665.2(KIAA1549):c.2400delinsAA (p.Glu801fs)Pathogenic
Retinitis pigmentosa 86
β˜…β˜†β˜†β˜†2024β†’ Residue 801
NM_001164665.2(KIAA1549):c.1796_1797del (p.Glu599fs)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 599
NM_001164665.2(KIAA1549):c.4551+1G>CLikely pathogenic
Retinitis pigmentosa 86
β˜…β˜†β˜†β˜†2023
NM_001164665.2(KIAA1549):c.1827del (p.Ser610fs)Pathogenic
Retinitis pigmentosa 86
β˜…β˜†β˜†β˜†2023β†’ Residue 610
NM_001164665.2(KIAA1549):c.4519C>T (p.Arg1507Ter)Likely pathogenic
Retinitis pigmentosa 86
β˜…β˜†β˜†β˜†2022β†’ Residue 1507
NM_001164665.2(KIAA1549):c.3823C>T (p.Arg1275Ter)Likely pathogenic
not provided
β˜†β˜†β˜†β˜†2025β†’ Residue 1275
NM_001164665.2(KIAA1549):c.52del (p.Arg18fs)Pathogenic
Retinitis pigmentosa 86
β˜†β˜†β˜†β˜†2019β†’ Residue 18
View on ClinVar β†—
Related Genes
CLCN6Protein interaction77%FAM131BProtein interaction77%AKAP9Protein interaction76%ARAFProtein interaction71%BRAFProtein interaction71%QKIProtein interaction70%
Tissue Expression6 tissues
Brain
100%
Ovary
11%
Bone Marrow
11%
Lung
9%
Heart
9%
Liver
4%
Gene Interaction Network
Click a node to explore
KIAA1549CLCN6FAM131BAKAP9ARAFBRAFQKI
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9HCM3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.58Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.48 [0.39–0.58]
RankingsWhere KIAA1549 stands among ~20K protein-coding genes
  • #9,225of 20,598
    Most Researched47
  • #3,097of 5,498
    Most Pathogenic Variants8
  • #3,923of 17,882
    Most Constrained (LOEUF)0.58 Β· top quartile
Genes detectedKIAA1549
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301590
1.00
2
Pilocytic Astrocytoma: A Review of General, Clinical, and Molecular Characteristics.
PMID: 32691644
J Child Neurol Β· 2020
0.90
3
Pediatric low-grade glioma in the era of molecular diagnostics.
PMID: 32164789
Acta Neuropathol Commun Β· 2020
0.80
4
Integrated Molecular and Clinical Analysis of 1,000 Pediatric Low-Grade Gliomas.
PMID: 32289278
Cancer Cell Β· 2020
0.70
5
Selumetinib in paediatric patients with BRAF-aberrant or neurofibromatosis type 1-associated recurrent, refractory, or progressive low-grade glioma: a multicentre, phase 2 trial.
PMID: 31151904
Lancet Oncol Β· 2019
0.60