RANBP6

Chr 9

RAN binding protein 6

NCBI Gene: 26953ENSG00000137040UniProt: O60518

The protein functions as a nuclear transport receptor that enables nuclear import signal receptor activity and binds nuclear localization sequences to facilitate protein import into the nucleus. Currently, no established human diseases have been definitively linked to RANBP6 mutations in the medical literature. The inheritance pattern for any potential RANBP6-related disorders has not been determined.

ResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 0.60
Clinical Summary— RANBP6
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
156 unique Pathogenic / Likely Pathogenic· 143 VUS of 307 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.60LOEUF
pLI 0.000
Z-score 3.40
OE 0.38 (0.24–0.60)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
-0.33Z-score
OE missense 1.04 (0.97–1.11)
594 obs / 571.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.38 (0.24–0.60)
0≤0.351.4
Missense OE1.04 (0.97–1.11)
0≤0.61.4
Synonymous OE1.25
0≤1.21.6
LoF obs/exp: 13 / 34.6Missense obs/exp: 594 / 571.6Syn Z: -2.85
DN
0.6455th %ile
GOF
0.5170th %ile
LOF
0.3161th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

307 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic150
Likely Pathogenic6
VUS143
Likely Benign4
150
Pathogenic
6
Likely Pathogenic
143
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
150
0
150
Likely Pathogenic
0
0
6
0
6
VUS
2
135
6
0
143
Likely Benign
0
2
0
2
4
Benign
0
0
0
0
0
Total21371622303

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

View in ClinVar →

Protein Context — Lollipop Plot

RANBP6 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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