INS Gene (Insulin) - Role in Diabetes and Metabolic Disorders
Comprehensive guide to the INS gene: genomic location, function, associated diseases, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | INS |
|---|---|
| Full Name | Insulin |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 3630 ncbi.nlm.nih.gov/gene/3630 |
| Ensembl ID | ENSG00000254647 |
| UniProt ID | P01308 |
| OMIM ID | 176730 |
| HGNC ID | 6081 |
| Aliases | IDDM2, ILPR, IRDN, MODY10 |
Description
The INS gene encodes insulin, a peptide hormone critical for glucose homeostasis. It is located on chromosome 11p15.5 and is primarily expressed in pancreatic beta cells. Insulin regulates carbohydrate and fat metabolism by promoting glucose uptake, glycogenesis, and lipogenesis, while inhibiting gluconeogenesis and lipolysis. Mutations in INS can lead to various forms of diabetes, including neonatal diabetes and maturity-onset diabetes of the young (MODY).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes mellitus type 1 | Autoimmune destruction of beta cells leading to insulin deficiency; INS gene polymorphisms (e.g., VNTR) affect susceptibility. | ClinVar, OMIM |
| Diabetes mellitus type 2 | Insulin resistance and relative insulin deficiency; INS mutations are rare but can impair insulin secretion. | ClinVar, OMIM |
| Maturity-onset diabetes of the young (MODY10) | Heterozygous missense mutations in INS cause beta-cell dysfunction and early-onset diabetes. | OMIM, ClinVar |
| Neonatal diabetes mellitus | Homozygous or compound heterozygous mutations in INS cause permanent neonatal diabetes due to insulin deficiency. | OMIM, ClinVar |
| Hyperproinsulinemia | Mutations affecting proinsulin processing lead to elevated proinsulin levels and impaired insulin secretion. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | High (nTPM ~ 1000) | Main site of insulin production in beta cells. |
| Liver | Low (nTPM < 1) | Minimal expression; not a primary source. |
| Adipose tissue | Low (nTPM < 1) | Insulin receptor signaling, but no significant INS expression. |
| Muscle (skeletal) | Low (nTPM < 1) | Insulin-responsive tissue, but no significant INS expression. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Beta cells (pancreatic) | High | Primary insulin-producing cells. |
| HeLa | Not detected | Cervical cancer cell line; no insulin expression. |
| HepG2 | Not detected | Liver cancer cell line; no insulin expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.137G>A (p.Arg46Gln) | Missense | Rare | Impairs proinsulin folding, leading to ER stress and beta-cell apoptosis. |
| c.188G>A (p.Gly63Arg) | Missense | Rare | Disrupts insulin structure, causing neonatal diabetes. |
| c.265C>T (p.Arg89Cys) | Missense | Rare | Affects proinsulin processing, leading to hyperproinsulinemia. |
| c.3G>A (p.Met1?) | Start codon loss | Rare | Loss of translation initiation, causing insulin deficiency. |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or eliminate insulin production, often due to misfolding or degradation, leading to diabetes.
Gain of Function (GOF)
Not typically described for INS; most mutations are loss-of-function or dominant-negative.
Dominant Negative (DN)
Heterozygous missense mutations that cause misfolded proinsulin to accumulate in the ER, triggering unfolded protein response and beta-cell death.
View complete mutation data：
Gene Ontology (GO)
| • hormone activity | • insulin receptor binding |
| • protein homodimerization activity | • extracellular space |
| • endoplasmic reticulum lumen | • regulation of glucose metabolic process |
| • positive regulation of cell proliferation | • negative regulation of gluconeogenesis |
Pathways
• Insulin signaling pathway
• Regulation of lipolysis in adipocytes
• Type II diabetes mellitus
• Maturity onset diabetes of the young
• AMPK signaling pathway
Protein Summary
Insulin is a peptide hormone composed of two chains (A and B) linked by disulfide bonds, derived from proinsulin after cleavage of the C-peptide. It is stored in secretory vesicles and released in response to glucose. Insulin binds to the insulin receptor, activating a cascade that promotes glucose uptake and metabolism. Defects in insulin structure or processing lead to metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INSR Knockout HEK293 Cell Line | EDJ-KQ679 | Human | 3643 | Details Get a Quote |
| KIDINS220 Knockout HEK293 Cell Line | EDJ-KQ1048 | Human | 57498 | Details Get a Quote |
| INSM1 Knockout HEK293 Cell Line | EDJ-KQ1916 | Human | 3642 | Details Get a Quote |
| INSL3 Knockout HEK293 Cell Line | EDJ-KQ4210 | Human | 3640 | Details Get a Quote |
| INSIG1 Knockout HEK293 Cell Line | EDJ-KQ4999 | Human | 3638 | Details Get a Quote |
| INSL4 Knockout HEK293 Cell Line | EDJ-KQ5001 | Human | 3641 | Details Get a Quote |
| INSRR Knockout HEK293 Cell Line | EDJ-KQ5003 | Human | 3645 | Details Get a Quote |
| INSL5 Knockout HEK293 Cell Line | EDJ-KQ6870 | Human | 10022 | Details Get a Quote |
| INSL6 Knockout HEK293 Cell Line | EDJ-KQ7315 | Human | 11172 | Details Get a Quote |
| INSM2 Knockout HEK293 Cell Line | EDJ-KQ9390 | Human | 84684 | Details Get a Quote |
| INSIG2 Knockout HEK293 Cell Line | EDJ-KQ10942 | Human | 51141 | Details Get a Quote |
| INSC Knockout HEK293 Cell Line | EDJ-KQ13844 | Human | 387755 | Details Get a Quote |
| INSYN1 Knockout HEK293 Cell Line | EDJ-KQ13845 | Human | 388135 | Details Get a Quote |
| INSYN2A Knockout HEK293 Cell Line | EDJ-KQ13846 | Human | 642938 | Details Get a Quote |
| INSYN2B Knockout HEK293 Cell Line | EDJ-KQ13847 | Human | 100131897 | Details Get a Quote |
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