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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KIAA1217
KIAA1217
Chromosome 10 · 10p12.2-p12.1
NCBI Gene: 56243Ensembl: ENSG00000120549.20HGNC: HGNC:25428UniProt: B7ZM29
74PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
centrosomeembryonic skeletal system developmentcytoplasmhypothyroidismsmoking initiationlobe attachmentPeyronie disease
✦AI Summary

KIAA1217 is a multifunctional protein with critical roles in skeletal development and cancer progression. Developmentally, KIAA1217 is required for normal intervertebral disk development 1, with mutations associated with both isolated and syndromic vertebral malformations 2. Genetic variants in KIAA1217 show significant association with lumbar disc herniation susceptibility in multiple populations 1. Beyond developmental functions, KIAA1217 acts as an oncogenic driver in multiple cancer types. In lung adenocarcinoma, KIAA1217-RET fusion proteins activate PI3K/AKT and ERK signaling pathways, promoting cell growth and invasion; notably, these fusion proteins show sensitivity to vandetanib treatment 3. In hepatocellular carcinoma, KIAA1217 functions as a cytoplasmic adaptor or scaffold protein that promotes epithelial-mesenchymal transition and metastasis by interacting with and activating JAK1/2-STAT3 signaling, with elevated expression correlating with poor patient survival 4. KIAA1217 copy number variations are frequently detected in HCC tissues 5. Additionally, KIAA1217 variants show potential associations with age at onset of bipolar disorder through gene-gene interactions 6. These findings establish KIAA1217 as both a developmental regulator and therapeutic target across multiple diseases.

Sources cited
1
KIAA1217 rare variants identified in vertebral malformation patients, proposing genetic contribution to VM etiology
PMID: 32369272
2
KIAA1217 (SKT) association with lumbar disc herniation; specifically expressed in intervertebral disk nucleus pulposa
PMID: 19338451
3
KIAA1217-RET fusion activates PI3K/AKT and ERK pathways in lung adenocarcinoma; sensitivity to vandetanib
PMID: 27150058
4
KIAA1217 promotes EMT and HCC metastasis via JAK1/2-STAT3 activation; high expression associated with poor survival
PMID: 35008530
5
KIAA1217 shows high frequency of copy number variations in hepatocellular carcinomas
PMID: 22326833
6
KIAA1217 variants show gene-gene interactions associated with age at onset of bipolar disorder
PMID: 38834091
Disease Associationsⓘ20
hypothyroidismOpen Targets
0.42Moderate
smoking initiationOpen Targets
0.37Weak
lobe attachmentOpen Targets
0.34Weak
Peyronie diseaseOpen Targets
0.32Weak
mathematical abilityOpen Targets
0.32Weak
response to diureticOpen Targets
0.32Weak
response to antipsychotic drugOpen Targets
0.31Weak
fungal infectious diseaseOpen Targets
0.30Weak
brain injuryOpen Targets
0.29Weak
dislocationOpen Targets
0.29Weak
preeclampsiaOpen Targets
0.28Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.28Weak
smoking cessationOpen Targets
0.28Weak
diabetic ketoacidosisOpen Targets
0.25Weak
hemorrhoidOpen Targets
0.24Weak
COVID-19Open Targets
0.24Weak
severe acute respiratory syndromeOpen Targets
0.22Weak
angina pectorisOpen Targets
0.21Weak
HypercholesterolemiaOpen Targets
0.20Weak
gastrointestinal diseaseOpen Targets
0.19Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IDH3AProtein interaction82%ACANProtein interaction71%DLX4Shared pathway50%UCMAShared pathway33%HOXA2Shared pathway33%CTDSPL2Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Liver
94%
Ovary
67%
Lung
58%
Brain
28%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
KIAA1217IDH3AACANDLX4UCMAHOXA2CTDSPL2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5T5P2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.62LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.52 [0.43–0.62]
RankingsWhere KIAA1217 stands among ~20K protein-coding genes
  • #6,406of 20,598
    Most Researched74
  • #4,345of 17,882
    Most Constrained (LOEUF)0.62 · top quartile
Genes detectedKIAA1217
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.
PMID: 32369272
Am J Med Genet A · 2020
1.00
2
Identification of a novel partner gene, KIAA1217, fused to RET: Functional characterization and inhibitor sensitivity of two isoforms in lung adenocarcinoma.
PMID: 27150058
Oncotarget · 2016
0.90
3
KIAA1217 Promotes Epithelial-Mesenchymal Transition and Hepatocellular Carcinoma Metastasis by Interacting with and Activating STAT3.
PMID: 35008530
Int J Mol Sci · 2021
0.80
4
Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation.
PMID: 19338451
J Bone Miner Res · 2009
0.70
5
Identification and characterization of human ARHGAP23 gene in silico.
PMID: 15254754
Int J Oncol · 2004
0.60