DRAXIN

Chr 1

dorsal inhibitory axon guidance protein

Also known as: AGPA3119, C1orf187, UNQ3119, neucrin

NCBI Gene: 374946 ENSG00000162490 UniProt: Q8NBI3 OMIM: 612682

DRAXIN encodes a chemorepulsive axon guidance protein that is essential for the development of spinal cord and forebrain commissures and acts as an antagonist of Wnt signaling by inhibiting beta-catenin stabilization. Mutations cause autosomal recessive horizontal gaze palsy with progressive scoliosis, characterized by absence of horizontal eye movements and progressive spinal curvature that typically becomes apparent in childhood or adolescence. The gene shows minimal constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Enables molecular adaptor activity. Predicted to be involved in negative regulation of canonical Wnt signaling pathway and nervous system development. Predicted to act upstream of or within negative regulation of axon extension and negative regulation of hippocampal neuron apoptotic process. Predicted to be active in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.53

Clinical Summary— DRAXIN

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

40 VUS of 57 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.53LOEUF

pLI 0.000

Z-score 0.02

OE 1.00 (0.67–1.53)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.32Z-score

OE missense 0.75 (0.66–0.85)

161 obs / 215.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.00 (0.67–1.53)

0≤0.351.4

Missense OE?0.75 (0.66–0.85)

0≤0.61.4

Synonymous OE?0.86

0≤1.21.6

LoF obs/exp: 15 / 15.1Missense obs/exp: 161 / 215.6Syn Z: 1.06

ClinVar Variant Classifications

57 submitted variants in ClinVar

ClinVar

Classification Summary

VUS40

Likely Benign7

Benign2

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	40	0	0	40
Likely Benign	4	2	1	7
Benign	1	0	1	2
Total	45	2	2	49

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

40 pathogenic / likely-pathogenic (of 53) ClinVar copy-number / structural variants overlap DRAXIN — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →