MOB4

Chr 2

MOB family member 4, phocein

Also known as: 2C4D, CGI-95, MOB1, MOB3, MOBKL3, PHOCN, PREI3

NCBI Gene: 25843 ENSG00000115540 UniProt: Q9Y3A3

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.

ResearchSummary from RefSeq, UniProt

This gene was identified based on its similarity with the mouse counterpart. Studies of the mouse counterpart suggest that the expression of this gene may be regulated during oocyte maturation and preimplantation following zygotic gene activation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HSPE1.[provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…

LOEUF 0.37

Clinical Summary— MOB4

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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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ClinVar Variants

5 VUS of 7 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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 OE?0.08 (0.03–0.37)

0≤0.351.4

Missense OE?0.37 (0.29–0.48)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 1 / 12.9Missense obs/exp: 42 / 113.2Syn Z: 0.20

ClinVar Variant Classifications

7 submitted variants in ClinVar

ClinVar

Classification Summary

VUS5

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	5	5
Likely Benign	0	0
Benign	0	0
Total	5	5

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

View in ClinVar →

36 pathogenic / likely-pathogenic (of 39) ClinVar copy-number / structural variants overlap MOB4 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →