MAP2
Homo sapiens
Gene Name: microtubule-associated protein 2
Aliases: MAP2A, MAP2B, MAP2C, DKFZp686I2148
Chromosome No: 2
Chromosome Band: 2q34
Genetic Category: Rare Single Gene variant-Functional
Aliases: MAP2A, MAP2B, MAP2C, DKFZp686I2148
Chromosome No: 2
Chromosome Band: 2q34
Genetic Category: Rare Single Gene variant-Functional
Summary Statistics:
ASD Reports: 7
Recent Reports: 2
Annotated variants: 5
Associated CNVs: 7
Evidence score: 2
ASD Reports: 7
Recent Reports: 2
Annotated variants: 5
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two autistic individuals were found to have ill-defined neocortical cellular layers, substantially depleted MAP2 neuronal expression, and reduced dendrite numbers (Mukaetova-Ladinska et al., 2004). In addition, a chromosome 2 deletion encompassing 47 genes, including the MAP2 gene, was found in a patient with autism and Rett syndrome-like features (Pescucci et al., 2003).
Molecular Function
The encoded protein is a member of microtubule-associated protein family.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Depletion of MAP2 expression and laminar cytoarchitectonic changes in dorsolateral prefrontal cortex in adult autistic individuals.
ASD
Support
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.
ASD
Highly Cited
Projection domains of MAP2 and tau determine spacings between microtubules in dendrites and axons.
Recent Recommendation
Modulation of alphaCaMKII signaling by rapid ERalpha action.
Recent Recommendation
Very-KIND, a KIND domain containing RasGEF, controls dendrite growth by linking Ras small GTPases and MAP2.
