MAP7D3 Gene: Microtubule-Associated Protein 7 Domain 3
A microtubule-binding protein involved in cytoskeletal dynamics, neuronal development, and potential cancer progression.
Gene Information Card
| Symbol | MAP7D3 |
|---|---|
| Full Name | MAP7 domain containing 3 |
| Gene Type | protein coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 79661 ncbi.nlm.nih.gov/gene/79661 |
| Ensembl ID | ENSG00000129675 |
| UniProt ID | Q8IY95 |
| OMIM ID | 300969 |
| HGNC ID | 25512 |
| Aliases | FLJ25351, MGC29643 |
Description
MAP7D3 (MAP7 domain containing 3) is a protein-coding gene located on the X chromosome. It encodes a microtubule-associated protein that belongs to the MAP7 family. MAP7D3 binds to microtubules and regulates their stability and organization, playing a role in cell division, intracellular transport, and neuronal differentiation. It is expressed in various tissues, with notable levels in the brain and testis. Emerging evidence suggests involvement in cancer progression and potential roles in neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression may enhance microtubule stability, promoting cell proliferation and migration. | COSMIC database lists somatic mutations and copy number changes in multiple cancer types. |
| Neurodevelopmental disorders | Disruption of microtubule dynamics may impair neuronal migration and differentiation. | Limited evidence; inferred from functional studies in model organisms. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | Highest expression in cerebral cortex and cerebellum. |
| Testis | High | Significant expression in testicular tissue. |
| Lung | Medium | Moderate expression. |
| Kidney | Medium | Moderate expression. |
| Liver | Low | Low expression. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line. |
| A549 | Medium | Lung carcinoma cell line. |
| MCF7 | Medium | Breast cancer cell line. |
| HepG2 | Low | Liver hepatocellular carcinoma cell line. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | Rare | Unknown functional impact. |
| c.567C>T (p.Pro189Leu) | Missense | Rare | Potential alteration in microtubule binding. |
| Copy number gain | CNV | Frequent in cancer | May lead to overexpression. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are not well characterized; likely result in reduced microtubule stability and impaired cellular processes.
Gain of Function (GOF)
Gain-of-function mutations or overexpression may enhance microtubule stability, promoting cell proliferation and migration in cancer.
Dominant Negative (DN)
No evidence for dominant-negative effects currently.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • microtubule cytoskeleton organization |
| • cell division | • intracellular transport |
| • neuron differentiation |
Pathways
• Microtubule cytoskeleton regulation
• Cell cycle
• Axon guidance
Protein Summary
MAP7D3 is a 754-amino acid protein containing a MAP7 domain that mediates microtubule binding. It localizes to microtubules and stabilizes them, influencing mitotic spindle formation and neuronal process outgrowth. The protein is expressed in multiple tissues, with highest levels in brain and testis. Post-translational modifications and interactions with other microtubule-associated proteins modulate its function. Altered expression has been observed in several cancers, suggesting a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAP7D3 Knockout HEK293 Cell Line | EDJ-KQ14197 | Human | 79649 | Details Get a Quote |
| MAP7D3 Knockout A-549 Cell Line | EDJ-KQ44143 | Human | 79649 | Details Get a Quote |
| MAP7D3 Knockout HCT 116 Cell Line | EDJ-KQ44144 | Human | 79649 | Details Get a Quote |
| MAP7D3 Knockout HeLa Cell Line | EDJ-KQ44145 | Human | 79649 | Details Get a Quote |
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