CNTN6

Chr 3

contactin 6

Also known as: NB3

NCBI Gene: 27255ENSG00000134115UniProt: Q9UQ52

The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneReviewsResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
complex neurodevelopmental disorder · ADDisputedevidence questions this relationship
1
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.15
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — CNTN6
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.15LOEUF
pLI 0.000
Z-score 0.62
OE 0.91 (0.72–1.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-3.00Z-score
OE missense 1.36 (1.28–1.45)
735 obs / 538.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.72–1.15)
0≤0.351.4
Missense OE?1.36 (1.28–1.45)
0≤0.61.4
Synonymous OE?1.33
0≤1.21.6
LoF obs/exp: 49 / 53.9Missense obs/exp: 735 / 538.7Syn Z: -3.62

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CNTN6 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients