MXRA7 Gene - Matrix Remodeling Associated 7
Comprehensive gene information for MXRA7, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | MXRA7 |
|---|---|
| Full Name | Matrix Remodeling Associated 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 100131731 ncbi.nlm.nih.gov/gene/100131731 |
| Ensembl ID | ENSG00000214595 |
| UniProt ID | A6NNA5 |
| OMIM ID | Not available |
| HGNC ID | HGNC:33737 |
| Aliases | MXR7, MXR7L, FLJ46321 |
Description
MXRA7 (Matrix Remodeling Associated 7) is a protein-coding gene located on chromosome 17q11.2. It is involved in extracellular matrix remodeling and has been implicated in various cellular processes including cell adhesion and migration. Expression studies suggest roles in development and disease, particularly in cancer and fibrotic conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may influence tumor microenvironment remodeling | NCBI Gene, COSMIC |
| Fibrosis | Potential role in extracellular matrix deposition | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Testis | 6.1 | Low |
| Adipose tissue | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.0 | Moderate expression |
| HeLa (cervical carcinoma) | 9.8 | Low expression |
| K562 (leukemia) | 3.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | Missense | 0.01% | p.Pro41Leu; unknown significance |
| c.456delA | Frameshift | 0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.456delA) are predicted to cause loss of function via premature truncation.
Gain of Function (GOF)
No gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular matrix organization (GO:0030198) |
| • cell adhesion (GO:0007155) |
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Integrin signaling pathway (KEGG: hsa04510)
Protein Summary
The MXRA7 protein (UniProt A6NNA5) is a secreted or membrane-associated protein involved in matrix remodeling. It contains a signal peptide and is predicted to participate in cell-matrix interactions. Expression is detected in multiple tissues, with highest levels in lung and spleen. The protein's exact function remains under investigation, but it is linked to cancer and fibrosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MXRA7 Knockout HEK293 Cell Line | EDJ-KQ10799 | Human | 439921 | Details Get a Quote |
| MXRA7 Knockout A-549 Cell Line | EDJ-KQ39778 | Human | 439921 | Details Get a Quote |
| MXRA7 Knockout HCT 116 Cell Line | EDJ-KQ39779 | Human | 439921 | Details Get a Quote |
| MXRA7 Knockout HeLa Cell Line | EDJ-KQ39780 | Human | 439921 | Details Get a Quote |
