MAP2

Chr 2

microtubule associated protein 2

Also known as: MAP-2, MAP2A, MAP2B, MAP2C

NCBI Gene: 4133ENSG00000078018UniProt: P11137

This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010]

269
ClinVar variants
24
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
Clinical Summary— MAP2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
24 Pathogenic / Likely Pathogenic· 207 VUS of 269 total submissions
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?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.
0.10LOEUF
pLI 1.000
Z-score 6.95
OE 0.03 (0.01–0.10)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

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.
0.88Z-score
OE missense 0.92 (0.87–0.97)
885 obs / 962.2 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.0.03 (0.01–0.10)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.92 (0.87–0.97)
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.1.04
0≤1.21.6
LoF obs/exp: 2 / 60.1Missense obs/exp: 885 / 962.2Syn Z: -0.58

ClinVar Variant Classifications

269 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic24
VUS207
Likely Benign26
Benign12
24
Pathogenic
207
VUS
26
Likely Benign
12
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
24
0
24
Likely Pathogenic
0
0
0
0
0
VUS
1
201
5
0
207
Likely Benign
0
13
0
13
26
Benign
0
5
1
6
12
Total12193019269

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

View in ClinVar →

Protein Context — Lollipop Plot

MAP2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Tau protein in neurodegenerative diseases - a review.
Pîrşcoveanu DFV et al.·Rom J Morphol Embryol
2017Review
Mechanisms of tau-induced neurodegeneration.
Iqbal K et al.·Acta Neuropathol
2009Review
Forskolin-driven conversion of human somatic cells into induced neurons through regulation of the cAMP-CREB1-JNK signaling.
Wang G et al.·Theranostics
2024
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
Tokatly Latzer I et al.·J Neurodev Disord
2024Natural history
Patient-specific mutation of Dync1h1 in mice causes brain and behavioral deficits.
Ramos RL et al.·Neurobiol Dis
2024
Faulty splicing and cytoskeleton abnormalities in Huntington's disease.
Fernández-Nogales M et al.·Brain Pathol
2016Review
Nestin expression in ganglioglioma.
Duggal N et al.·Exp Neurol
2002
[Antimitotic agents].
Fukuoka K et al.·Gan To Kagaku Ryoho
1997Review
Extracellular vesicles from microglial cells activated by abnormal heparan sulfate oligosaccharides from Sanfilippo patients impair neuronal dendritic arborization.
Dias C et al.·Mol Med
2024Cohort
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Roberts JL et al.·Gene
2014
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
CSF levels of the somatodendritic protein MAP2 are increased in ALS and predict shorter survival.
Verde F et al.·J Neurol Neurosurg Psychiatry
2025
Differential expression of VGLUT1, GAD65, GAD67, and MAP2 in the retina of hibernating Anatolian ground squirrel (Spermophilus xanthoprymnus).
Özbek M et al.·Ann Anat
2026
MAP2 phosphorylation: mechanisms, functional consequences, and emerging insights.
Lyu J et al.·Front Cell Neurosci
2025🔓 Open AccessFunctional
Maternal immune activation imprints translational dysregulation and differential MAP2 phosphorylation in descendant neural stem cells.
Martín-Guerrero SM et al.·Mol Psychiatry
2025🔓 Open Access
Axodendritic targeting of TAU and MAP2 and microtubule polarization in iPSC-derived versus SH-SY5Y-derived human neurons.
Breuer H et al.·Open Life Sci
2024🔓 Open Access
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