RTN4RL1

Chr 17

reticulon 4 receptor like 1

Also known as: NGRH2, NgR3

The protein functions as a cell surface receptor that regulates axon regeneration in the central nervous system, contributes to corpus callosum formation, and restricts dendritic spine and synapse formation during brain development. Mutations cause autosomal recessive spastic paraplegia with intellectual disability and corpus callosum abnormalities. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt
LOEUF 0.30
Clinical SummaryRTN4RL1
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.96). One damaged copy is likely sufficient to cause disease.
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.30LOEUF
pLI 0.960
Z-score 2.94
OE 0.00 (0.000.30)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.47Z-score
OE missense 0.75 (0.670.84)
212 obs / 281.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.000.30)
00.351.4
Missense OE0.75 (0.670.84)
00.61.4
Synonymous OE1.05
01.21.6
LoF obs/exp: 0 / 10.1Missense obs/exp: 212 / 281.4Syn Z: -0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RTN4RL1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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