MOB4

Chr 2

MOB family member 4, phocein

ENSG00000115540UniProt: Q9Y3A3OMIM: 609361

MOB4 encodes a component of striatin-interacting phosphatase and kinase (STRIPAK) complexes that regulate multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling pathways involved in cell growth, differentiation, apoptosis, metabolism and immune regulation. The gene is highly constrained against loss-of-function variants (pLI 0.93, LOEUF 0.37), but no established Mendelian disease associations have been reported to date. Further research is needed to determine if MOB4 variants cause human disease.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.37
Clinical Summary— MOB4
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.93). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.37LOEUF
pLI 0.931
Z-score 3.07
OE 0.08 (0.03–0.37)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.38Z-score
OE missense 0.37 (0.29–0.48)
42 obs / 113.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.08 (0.03–0.37)
0≤0.351.4
Missense OE0.37 (0.29–0.48)
0≤0.61.4
Synonymous OE0.96
0≤1.21.6
LoF obs/exp: 1 / 12.9Missense obs/exp: 42 / 113.2Syn Z: 0.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MOB4 · 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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