MISP3 Gene: Structure, Function, and Clinical Significance
Comprehensive guide to the MISP3 gene, including its genomic location, protein product, expression patterns, and potential implications in disease.
Gene Information Card
| Symbol | MISP3 |
|---|---|
| Full Name | MISP family member 3 |
| Gene Type | gene with protein product |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 113230 ncbi.nlm.nih.gov/gene/113230 |
| Ensembl ID | ENSG00000141854 |
| UniProt ID | Q96FF7 |
| OMIM ID | Not available |
| HGNC ID | HGNC:26963 |
| Aliases | Not available |
Description
MISP3 (MISP family member 3) is a protein-coding gene located on chromosome 19p13.12. It is part of the MISP family, which is involved in mitotic spindle positioning and cell polarity. The protein product is predicted to play a role in cell division and cytoskeletal organization. MISP3 is expressed in various tissues, with notable levels in the testis and thyroid. Its function is not fully characterized, but it may be implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Potential role in tumorigenesis due to involvement in cell division and spindle positioning. | Limited evidence from expression studies and functional predictions. |
| Infertility | High expression in testis suggests a possible role in spermatogenesis. | Expression data from GTEx and Human Protein Atlas. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Thyroid | 15.7 | Medium |
| Adrenal gland | 10.2 | Medium |
| Lung | 8.4 | Low |
| Breast | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 | 12.5 | Lung carcinoma |
| MCF7 | 8.2 | Breast adenocarcinoma |
| HepG2 | 5.6 | Hepatocellular carcinoma |
| K562 | 4.3 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41M) | Missense | 0.01% | Unknown |
| c.456C>T (p.R153*) | Nonsense | 0.005% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mitotic spindle organization | • cell division |
| • cytoskeleton organization |
Pathways
• Mitotic spindle assembly and checkpoint
• Cell cycle
Protein Summary
The MISP3 protein is a member of the MISP family, which is involved in mitotic spindle positioning and cell polarity. It contains a calponin homology (CH) domain, which is known to bind actin and is involved in cytoskeletal organization. MISP3 is predicted to localize to the mitotic spindle and play a role in ensuring proper chromosome segregation during cell division. Its expression in tissues such as testis suggests additional roles in spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MISP3 Knockout HEK293 Cell Line | EDJ-KQ7414 | Human | 113230 | Details Get a Quote |
| MISP3 Knockout A-549 Cell Line | EDJ-KQ32591 | Human | 113230 | Details Get a Quote |
| MISP3 Knockout HCT 116 Cell Line | EDJ-KQ32592 | Human | 113230 | Details Get a Quote |
| MISP3 Knockout HeLa Cell Line | EDJ-KQ32593 | Human | 113230 | Details Get a Quote |
