MAP7D2
Microtubule-Associated Protein 7 Domain Containing 2
Gene Information Card
| Symbol | MAP7D2 |
|---|---|
| Full Name | MAP7 domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.12 |
| NCBI Gene ID | 256714 ncbi.nlm.nih.gov/gene/256714 |
| Ensembl ID | ENSG00000183856 |
| UniProt ID | Q96T17 |
| OMIM ID | 300970 |
| HGNC ID | 25690 |
| Aliases | FLJ22662, MGC131891 |
Description
MAP7D2 (MAP7 domain containing 2) is a protein-coding gene located on chromosome Xp22.12. It encodes a member of the MAP7 family of microtubule-associated proteins, which are involved in microtubule stabilization and organization. The protein contains a conserved MAP7 domain and is implicated in cellular processes such as cell division and intracellular transport. Expression is enriched in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No curated disease entries in OMIM, ClinVar, or COSMIC as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 2.1 | Not detected |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.0 | Moderate expression |
| HeLa | 3.2 | Low expression |
| K562 | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function variants documented in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants documented.
Dominant Negative (DN)
No dominant-negative variants documented.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • microtubule cytoskeleton organization |
| • cytoplasm |
Pathways
• Microtubule cytoskeleton regulation
Protein Summary
The MAP7D2 protein (UniProt Q96T17) is a 754-amino acid microtubule-associated protein containing a MAP7 domain. It localizes to the cytoplasm and binds microtubules, contributing to their stabilization and organization. Expression is highest in brain and testis, suggesting roles in neuronal and reproductive cell function. No disease-associated mutations have been reported.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAP7D2 Knockout HEK293 Cell Line | EDJ-KQ11844 | Human | 256714 | Details Get a Quote |
| MAP7D2 Knockout A-549 Cell Line | EDJ-KQ40269 | Human | 256714 | Details Get a Quote |
| MAP7D2 Knockout HeLa Cell Line | EDJ-KQ40270 | Human | 256714 | Details Get a Quote |
| MAP7D2 Knockout HCT 116 Cell Line | EDJ-KQ76159 | Human | 256714 | Details Get a Quote |
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