MTUS2

Chr 13

microtubule associated scaffold protein 2

Also known as: CAZIP, ICIS, KIAA0774, TIP150

This protein binds microtubules and regulates microtubule dynamics at their growing tips, potentially targeting the microtubule depolymerase KIF2C to microtubule plus-ends. The gene is highly constrained against loss-of-function variants (LOEUF 0.34), but no established human disease associations have been reported for MTUS2 mutations. Inheritance pattern cannot be determined without documented cases.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.34
Clinical SummaryMTUS2
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.80) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.34LOEUF
pLI 0.795
Z-score 5.18
OE 0.20 (0.120.34)
Highly constrained

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

Missense Constraint
0.08Z-score
OE missense 0.99 (0.931.05)
766 obs / 772.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.20 (0.120.34)
00.351.4
Missense OE0.99 (0.931.05)
00.61.4
Synonymous OE1.02
01.21.6
LoF obs/exp: 10 / 49.3Missense obs/exp: 766 / 772.5Syn Z: -0.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MTUS2 · 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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Clinical Literature
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