MAP2
microtubule associated protein 2, the group of A-kinase anchoring proteins
Basic information
Region (hg38): 2:209424047-209734147
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (186 variants)
- not_provided (32 variants)
- MAP2-associated_Neurodevelopmental_Disorder (1 variants)
- Rett_syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001375505.1. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 13 | 19 | ||||
| missense | 179 | 12 | 196 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 180 | 25 | 11 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MAP2 | protein_coding | protein_coding | ENST00000360351 | 12 | 310061 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 8.30e-9 | 125547 | 0 | 2 | 125549 | 0.00000797 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.884 | 885 | 962 | 0.920 | 0.0000486 | 11944 |
| Missense in Polyphen | 333 | 428.52 | 0.7771 | 5291 | ||
| Synonymous | -0.583 | 367 | 353 | 1.04 | 0.0000187 | 3627 |
| Loss of Function | 6.95 | 2 | 60.1 | 0.0333 | 0.00000298 | 857 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000265 | 0.0000176 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: The exact function of MAP2 is unknown but MAPs may stabilize the microtubules against depolymerization. They also seem to have a stiffening effect on microtubules.;
- Pathway
- Taxane Pathway, Pharmacokinetics;Melatonin metabolism and effects;MAPK Cascade;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;LKB1 signaling events
(Consensus)
Recessive Scores
- pRec
- 0.255
Intolerance Scores
- loftool
- 0.316
- rvis_EVS
- -1.31
- rvis_percentile_EVS
- 4.82
Haploinsufficiency Scores
- pHI
- 0.286
- hipred
- Y
- hipred_score
- 0.594
- ghis
- 0.607
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.714
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Map2
- Phenotype
- endocrine/exocrine gland phenotype; growth/size/body region phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- microtubule cytoskeleton organization;microtubule bundle formation;axonogenesis;dendrite development;central nervous system neuron development;establishment of cell polarity;negative regulation of axon extension;regulation of microtubule polymerization;negative regulation of microtubule polymerization;neuron projection development;dendrite morphogenesis;cellular response to organic substance;positive regulation of anterograde dense core granule transport;regulation of organelle transport along microtubule;positive regulation of anterograde synaptic vesicle transport;regulation of cellular protein localization;negative regulation of microtubule binding;negative regulation of microtubule motor activity
- Cellular component
- nucleolus;cytoplasm;cytosol;microtubule;microtubule associated complex;postsynaptic density;dendrite;dendrite cytoplasm;nuclear periphery;neuron projection;neuronal cell body;axon initial segment;dendritic shaft;axon hillock;dendritic growth cone;main axon;dendritic branch;basal dendrite;CA3 pyramidal cell dendrite;primary dendrite;distal dendrite;apical distal dendrite;dendritic filopodium;proximal dendrite;proximal neuron projection
- Molecular function
- dystroglycan binding;structural molecule activity;protein binding;calmodulin binding;microtubule binding;tau protein binding