MAP10

Chr 1

microtubule associated protein 10

Also known as: KIAA1383, MTR120

NCBI Gene: 54627 ENSG00000212916 UniProt: Q9P2G4 OMIM: 618551

The protein is a microtubule-associated protein that promotes microtubule stability and participates in spindle midzone organization during cell division. Mutations cause neurodevelopmental disorder with microcephaly, seizures, and brain atrophy, inherited in an autosomal recessive pattern. The gene shows extremely high constraint against loss-of-function variants (pLI ~1), indicating that such variants are likely to be pathogenic when present in the homozygous or compound heterozygous state.

OMIM ResearchSummary from RefSeq, UniProt

Enables microtubule binding activity. Involved in microtubule cytoskeleton organization; positive regulation of cytokinesis; and regulation of microtubule-based process. Located in microtubule cytoskeleton and midbody. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.34

Clinical Summary— MAP10

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

154 VUS of 177 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.34LOEUF

pLI 0.000

Z-score 0.04

OE 0.99 (0.74–1.34)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.32Z-score

OE missense 1.16 (1.08–1.24)

632 obs / 545.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.99 (0.74–1.34)

0≤0.351.4

Missense OE?1.16 (1.08–1.24)

0≤0.61.4

Synonymous OE?1.27

0≤1.21.6

LoF obs/exp: 31 / 31.3Missense obs/exp: 632 / 545.2Syn Z: -3.12

ClinVar Variant Classifications

177 submitted variants in ClinVar

ClinVar

Classification Summary

VUS154

Likely Benign21

Benign2

154

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	127	27	0	154
Likely Benign	15	5	1	21
Benign	2	0	0	2
Total	144	32	1	177

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

View in ClinVar →

38 pathogenic / likely-pathogenic (of 48) ClinVar copy-number / structural variants overlap MAP10 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →