MAP7

Chr 6

microtubule associated protein 7

Also known as: E-MAP-115, EMAP115

The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
0.38
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.38LOEUF
pLI 0.424
Z-score 4.82
OE 0.22 (0.140.38)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.70Z-score
OE missense 0.91 (0.840.98)
415 obs / 457.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.22 (0.140.38)
00.351.4
Missense OE?0.91 (0.840.98)
00.61.4
Synonymous OE?0.94
01.21.6
LoF obs/exp: 10 / 44.8Missense obs/exp: 415 / 457.3Syn Z: 0.58

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MAP7 · 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

No active trials found for this gene.

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