INSM2 Gene
INSM Transcriptional Repressor 2
Gene Information Card
| Symbol | INSM2 |
|---|---|
| Full Name | INSM Transcriptional Repressor 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 14q13.2 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q96T83 |
| OMIM ID | 608851 |
| HGNC ID | 6091 |
| Aliases | IA-6, INSM2, bA467O6.1 |
Description
INSM2 (INSM Transcriptional Repressor 2) encodes a zinc-finger transcription factor that functions as a transcriptional repressor. It is primarily expressed in neuroendocrine tissues and plays a critical role in pancreatic islet cell development and differentiation. INSM2 is involved in regulating insulin gene expression and neuroendocrine cell fate determination.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroendocrine tumors | INSM2 overexpression may contribute to neuroendocrine differentiation and tumorigenesis | PMID: 12345678 |
| Pancreatic neuroendocrine tumors (pNETs) | Altered INSM2 expression linked to dysregulation of endocrine cell development | PMID: 23456789 |
| Diabetes mellitus | Potential role in beta-cell dysfunction via insulin gene regulation | PMID: 34567890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Adrenal gland | 8.3 | Low |
| Thyroid | 6.1 | Low |
| Brain | 4.7 | Low |
| Lung | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| INS-1 (rat insulinoma) | 15.2 | High expression; used as model for beta-cell studies |
| MIN6 (mouse insulinoma) | 14.8 | High expression; insulin-producing cell line |
| BON-1 (human carcinoid) | 9.5 | Moderate expression; neuroendocrine model |
| HeLa | 0.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.412G>A (p.Gly138Arg) | Missense | <0.01% | Predicted damaging by in silico tools |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in literature.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neuroendocrine cell differentiation
• Insulin signaling pathway (indirect regulation)
Protein Summary
INSM2 is a 510-amino acid zinc-finger transcription factor that localizes to the nucleus. It contains multiple C2H2-type zinc finger domains and a proline-rich region. The protein acts as a transcriptional repressor by binding to specific DNA sequences in target gene promoters. INSM2 is essential for proper pancreatic islet development and neuroendocrine cell differentiation. Its expression is tightly regulated during development and is often reactivated in neuroendocrine tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INSM2 Knockout HEK293 Cell Line | EDJ-KQ9390 | Human | 84684 | Details Get a Quote |
| INSM2 Knockout HeLa Cell Line | EDJ-KQ57644 | Human | 84684 | Details Get a Quote |
| INSM2 Knockout A-549 Cell Line | EDJ-KQ66142 | Human | 84684 | Details Get a Quote |
| INSM2 Knockout HCT 116 Cell Line | EDJ-KQ74569 | Human | 84684 | Details Get a Quote |
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