MAP7

Chr 6

microtubule associated protein 7

Also known as: E-MAP-115, EMAP115

NCBI Gene: 9053ENSG00000135525UniProt: Q14244

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]

0
ClinVar variants
0
Pathogenic / LP
0.42
pLI score
0
Active trials
Clinical Summary— MAP7
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.38LOEUF
pLI 0.424
Z-score 4.82
OE 0.22 (0.14–0.38)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.70Z-score
OE missense 0.91 (0.84–0.98)
415 obs / 457.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.22 (0.14–0.38)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.91 (0.84–0.98)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.94
0≤1.21.6
LoF obs/exp: 10 / 44.8Missense obs/exp: 415 / 457.3Syn Z: 0.58

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
MAP7 and MUCL1 Are Biomarkers of Vitamin D3-Induced Tolerogenic Dendritic Cells in Multiple Sclerosis Patients.
Navarro-Barriuso J et al.·Front Immunol
2019Cohort
Clinical Significance of MAP-7 and FOXC1 in Egyptian Acute Myeloid Leukemia Patients.
Nabawy SM et al.·Asian Pac J Cancer Prev
2022Cohort
Cloning and characterization of an inversion breakpoint at 6q23.3 suggests a role for Map7 in sacral dysgenesis.
Sood R et al.·Cytogenet Genome Res
2004
The Investigation of MAPK7 Gene Variations in Colorectal Cancer Risk.
Cacina C et al.·In Vivo
2023
Identification of risk genes in Chinese nonobstructive azoospermia patients based on whole-exome sequencing.
Liu YJ et al.·Asian J Androl
2023Cohort
Effect of Lactobacillus delbrueckii subsp. lactis on vaginal radiotherapy for gynecological cancer.
Bi Z et al.·Sci Rep
2023
Exome-wide association study of levodopa-induced dyskinesia in Parkinson's disease.
König E et al.·Sci Rep
2021
Septin-dependent remodeling of cortical microtubule drives cell reshaping during epithelial wound healing.
Shindo A et al.·J Cell Sci
2018Functional
MAP7D3, a novel prognostic marker for triple-negative breast cancer, drives cell invasiveness and cancer-initiating cell properties to promote metastatic progression.
Kuo WH et al.·Biol Direct
2023
The role of proline rich tyrosine kinase 2 (Pyk2) on cisplatin resistance in hepatocellular carcinoma.
Geng W et al.·PLoS One
2011
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools