MINDY4

Chr 7

MINDY lysine 48 deubiquitinase 4

Also known as: C7orf67, FAM188B

NCBI Gene: 84182ENSG00000106125UniProt: Q4G0A6

Predicted to enable K48-linked deubiquitinase activity. Predicted to be involved in protein K48-linked deubiquitination and proteolysis. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
23
Pathogenic / LP
182
ClinVar variants
0
Pubs (1 yr)
0.0
Missense Z
1.13
LOEUF
Clinical Summary— MINDY4
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
23 Pathogenic / Likely Pathogenic· 147 VUS of 182 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.13LOEUF
pLI 0.000
Z-score 0.90
OE 0.84 (0.64–1.13)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.02Z-score
OE missense 1.00 (0.92–1.08)
424 obs / 425.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.84 (0.64–1.13)
0≤0.351.4
Missense OE1.00 (0.92–1.08)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 32 / 38.0Missense obs/exp: 424 / 425.0Syn Z: -0.37

ClinVar Variant Classifications

182 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic4
VUS147
Likely Benign12
19
Pathogenic
4
Likely Pathogenic
147
VUS
12
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
19
0
19
Likely Pathogenic
0
0
4
0
4
VUS
0
136
11
0
147
Likely Benign
0
9
0
3
12
Benign
0
0
0
0
0
Total0145343182

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

View in ClinVar →

MINDY4 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
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