HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLITRK6
SLIT and NTRK like family member 6
Chromosome 13 · 13q31.1
NCBI Gene: 84189Ensembl: ENSG00000184564.11HGNC: HGNC:23503UniProt: Q9H5Y7
25PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranesynapse assemblycell surfaceaxonogenesishigh myopia-sensorineural deafness syndromehearing loss, autosomal recessiveGlobal developmental delayHypercholesterolemia
✦AI Summary

SLITRK6 is a leucine-rich repeat transmembrane protein that functions as a regulator of neurite outgrowth essential for normal sensory development 1. Primary Function: SLITRK6 regulates synapse assembly and axonogenesis during neurodevelopment, with particular importance in the developing retina and inner ear 1. Mechanism: The protein localizes to the cell surface and plasma membrane where it promotes synaptogenesis 1. Loss-of-function mutations impair cell surface localization, resulting in delayed retinal synaptogenesis and increased axial eye length 1. Disease Relevance: Autosomal-recessive SLITRK6 mutations cause a syndromic form of deafness and myopia characterized by high myopia and sensorineural hearing loss 12. Additionally, congenital cytomegalovirus infection downregulates SLITRK6 expression through viral IE2 proteins, potentially contributing to infection-associated sensorineural hearing loss 3. Clinical Significance: Beyond sensory disorders, SLITRK6 has emerged as a therapeutic target in cancer. The protein is upregulated in urothelial carcinoma—particularly upper tract urothelial carcinoma—where it promotes cell proliferation via PI3K/AKT/mTOR signaling and the Warburg effect 45. Antibody-drug conjugates targeting SLITRK6 have received FDA breakthrough designations for advanced urothelial carcinoma 6.

Sources cited
1
SLITRK6 mutations cause autosomal-recessive myopia and sensorineural deafness; protein localizes to cell surface; Slitrk6-deficient mice show delayed retinal synaptogenesis and auditory deficits
PMID: 23543054
2
Novel SLITRK6 mutation (c.696delG, p.Trp232Cysfs*10) identified in Moroccan family with deafness and myopia syndrome
PMID: 29551497
3
HCMV infection downregulates SLITRK6 expression through viral IE2 protein, potentially contributing to infection-associated sensorineural hearing loss
PMID: 27530937
4
SLITRK6 promotes lung adenocarcinoma progression by regulating PI3K/AKT/mTOR signaling and Warburg effect; knockdown suppresses cell proliferation and glycolysis
PMID: 37219677
5
SLITRK6 expression is significantly upregulated in urothelial carcinoma, particularly upper tract urothelial carcinoma, and serves as a potential therapeutic target
PMID: 37353040
6
Antibody-drug conjugates targeting SLITRK6 received FDA breakthrough designations for advanced urothelial carcinoma treatment
PMID: 30844889
7
SLITRK6 gene expression upregulated during early brain development (10-12 weeks gestation), associated with ear and eye sensory input development
PMID: 24436137
Disease Associationsⓘ21
high myopia-sensorineural deafness syndromeOpen Targets
0.69Moderate
hearing loss, autosomal recessiveOpen Targets
0.38Weak
Global developmental delayOpen Targets
0.34Weak
HypercholesterolemiaOpen Targets
0.32Weak
schizophreniaOpen Targets
0.28Weak
oligodendrogliomaOpen Targets
0.28Weak
spinal stenosisOpen Targets
0.25Weak
celiac diseaseOpen Targets
0.22Weak
adolescent idiopathic scoliosisOpen Targets
0.21Weak
Abruptio PlacentaeOpen Targets
0.20Weak
autoimmune disorder of musculoskeletal systemOpen Targets
0.20Weak
benign neoplasmOpen Targets
0.20Weak
placenta praeviaOpen Targets
0.20Weak
systemic lupus erythematosusOpen Targets
0.20Weak
estrogen-receptor positive breast cancerOpen Targets
0.19Weak
triple-negative breast cancerOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
Delayed pubertyOpen Targets
0.18Weak
JaundiceOpen Targets
0.18Weak
fracture of pelvisOpen Targets
0.17Weak
Deafness and myopiaUniProt
Pathogenic Variants9
NM_032229.3(SLITRK6):c.1240C>T (p.Gln414Ter)Pathogenic
High myopia-sensorineural deafness syndrome|not provided|SLITRK6-related disorder
★★☆☆2025→ Residue 414
NM_032229.3(SLITRK6):c.406G>T (p.Glu136Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 136
NM_032229.3(SLITRK6):c.1171del (p.Met391fs)Pathogenic
not provided
★☆☆☆2024→ Residue 391
NM_032229.3(SLITRK6):c.984C>G (p.Tyr328Ter)Likely pathogenic
not provided
★☆☆☆2023→ Residue 328
NM_032229.3(SLITRK6):c.1557G>A (p.Trp519Ter)Likely pathogenic
not provided
★☆☆☆2023→ Residue 519
NM_032229.3(SLITRK6):c.382A>T (p.Lys128Ter)Likely pathogenic
SLITRK6-related disorder
★☆☆☆2023→ Residue 128
NM_032229.3(SLITRK6):c.890C>A (p.Ser297Ter)Likely pathogenic
High myopia-sensorineural deafness syndrome
★☆☆☆2022→ Residue 297
NM_032229.3(SLITRK6):c.3G>C (p.Met1Ile)Pathogenic
Global developmental delay
★☆☆☆2019→ Residue 1
NM_032229.3(SLITRK6):c.541C>T (p.Arg181Ter)Pathogenic
High myopia-sensorineural deafness syndrome
☆☆☆☆2013→ Residue 181
View on ClinVar ↗
Related Genes
SLITRK5Shared pathway50%SLITRK4Shared pathway50%SLITRK1Shared pathway43%SLITRK3Shared pathway40%SLITRK2Shared pathway33%LRRTM4Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Brain
72%
Liver
17%
Lung
12%
Bone Marrow
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
SLITRK6SLITRK5SLITRK4SLITRK1SLITRK3SLITRK2LRRTM4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H5Y7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.47–0.81]
RankingsWhere SLITRK6 stands among ~20K protein-coding genes
  • #13,077of 20,598
    Most Researched25
  • #2,995of 5,498
    Most Pathogenic Variants9
  • #6,838of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedSLITRK6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Targeting advanced urothelial carcinoma-developing strategies.
PMID: 30844889
Curr Opin Oncol · 2019
1.00
2
SLITRK6 mutations cause myopia and deafness in humans and mice.
PMID: 23543054
J Clin Invest · 2013
0.90
3
SLITRK6 promotes the progression of lung adenocarcinoma by regulating PI3K/AKT/mTOR signaling and Warburg effect.
PMID: 37219677
Apoptosis · 2023
0.80
4
Differential expression of SLITRK6 gene as a potential therapeutic target for urothelial carcinoma in particular upper tract cancer.
PMID: 37353040
Gene · 2023
0.70
5
Human cytomegalovirus downregulates SLITRK6 expression through IE2.
PMID: 27530937
J Neurovirol · 2017
0.60