SLITRK2

Chr X

SLIT and NTRK like family member 2

Also known as: CXorf1, CXorf2, SLITL1, TMEM257, XLID111

This gene encodes an integral membrane protein that contains two N-terminal leucine-rich repeats domains and contains C-terminal regions similar to neurotrophin receptors. The encoded protein may play a role in modulating neurite activity. Alternatively spliced transcript variants encoding the same protein have been described.[provided by RefSeq, Feb 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, X-linked 111

Clinical highlights

Gene-disease validity (ClinGen)
X-linked complex neurodevelopmental disorder · XLLimitednot for standalone diagnostic reporting
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
0.69
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.69LOEUF
pLI 0.006
Z-score 2.54
OE 0.37 (0.210.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.20Z-score
OE missense 0.66 (0.590.73)
212 obs / 323.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.37 (0.210.69)
00.351.4
Missense OE?0.66 (0.590.73)
00.61.4
Synonymous OE?1.08
01.21.6
LoF obs/exp: 7 / 18.9Missense obs/exp: 212 / 323.0Syn Z: -0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLITRK2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →