JMY Gene - Junction Mediating and Regulatory Protein, p53 Cofactor
Comprehensive genomic and functional overview of JMY, a key regulator of p53 transcriptional activity and actin dynamics.
Gene Information Card
| Symbol | JMY |
|---|---|
| Full Name | Junction Mediating and Regulatory Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 5q14.1 |
| NCBI Gene ID | 133619 ncbi.nlm.nih.gov/gene/133619 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q8N9B5 |
| OMIM ID | 612099 |
| HGNC ID | 28916 |
| Aliases | JMY, FLJ11029, MGC138290 |
Description
JMY (Junction Mediating and Regulatory Protein) is a protein-coding gene that functions as a cofactor for p53/TP53, enhancing its transcriptional activity, and also acts as an actin nucleation factor. It is involved in cell motility, DNA damage response, and apoptosis. JMY is located on chromosome 5q14.1 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | JMY overexpression may enhance p53-dependent apoptosis; altered expression linked to tumor progression. | PMID: 19351884, COSMIC |
| Colorectal cancer | JMY mutations and copy number alterations observed; potential role in p53 pathway dysregulation. | COSMIC, ClinVar |
| Prostate cancer | JMY expression changes associated with p53 activity and cell migration. | PMID: 21516113 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| MCF7 | 9.5 | Breast cancer cell line |
| HEK293 | 8.7 | Embryonic kidney cell line |
| A549 | 7.3 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T | Missense | 0.02% | p.Arg335Trp; uncertain significance |
| c.1456G>A | Missense | 0.01% | p.Gly486Ser; uncertain significance |
| c.1789_1790insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, impairing both p53 coactivation and actin nucleation.
Gain of Function (GOF)
Not well characterized; some missense variants may alter protein stability or interaction.
Dominant Negative (DN)
Not reported for JMY.
View complete mutation data：
Gene Ontology (GO)
Pathways
• p53 signaling pathway (Reactome: R-HSA-3700989)
• Actin nucleation by Arp2/3 complex (Reactome: R-HSA-201688)
Protein Summary
JMY is a 983-amino acid protein that contains a WH2 domain and an actin-binding region, enabling it to nucleate actin filaments independently of the Arp2/3 complex. It also interacts with p53 to enhance transcription of pro-apoptotic genes. JMY is localized in both the nucleus and cytoplasm, and its activity is regulated by subcellular shuttling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JMY Knockout HEK293 Cell Line | EDJ-KQ9324 | Human | 133746 | Details Get a Quote |
| JMY Knockout A-549 Cell Line | EDJ-KQ35950 | Human | 133746 | Details Get a Quote |
| JMY Knockout HCT 116 Cell Line | EDJ-KQ35951 | Human | 133746 | Details Get a Quote |
| JMY Knockout HeLa Cell Line | EDJ-KQ35952 | Human | 133746 | Details Get a Quote |
