INS Chromosome 11
Insulin
Upload your DNA to see your personal genotypes for variants in INS.
What This Gene Does
This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. [provided by RefSeq, May 2020]
Gene Info
Gene Group
"Neuropeptides|Insulin family"
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000254647
Associated Conditions (18)
Neonatal insulin-dependent diabetes mellitus
Monogenic diabetes
Maturity-onset diabetes of the young type 10
Inborn genetic diseases
INS-related disorder
Diabetes mellitus
permanent neonatal 4
Type 1 diabetes mellitus 2
Hyperproinsulinemia
Permanent neonatal diabetes mellitus
Transient Neonatal Diabetes
Dominant/Recessive
Diabetes mellitus type 1
Type 2 diabetes mellitus
Neonatal diabetes mellitus
Amyotrophic lateral sclerosis
susceptibility to
24
Key Variants
RS1051986248
Conflicting classifications of pathogenicity
Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
Health Risk
RS1057524907
Conflicting classifications of pathogenicity
Monogenic diabetes, Maturity-onset diabetes of the young type 10, Monogenic diabetes
Health Risk
RS11564720
Conflicting classifications of pathogenicity
Inborn genetic diseases, Maturity-onset diabetes of the young type 10, Inborn genetic diseases
Health Risk
RS121908259
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 10, INS-related disorder, Diabetes mellitus
Health Risk
RS121908260
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 10, Diabetes mellitus, permanent neonatal 4
Health Risk
RS121908277
Conflicting classifications of pathogenicity
Permanent neonatal diabetes mellitus, Diabetes mellitus, permanent neonatal 4
Health Risk
RS139264769
Conflicting classifications of pathogenicity
Type 1 diabetes mellitus 2, Hyperproinsulinemia, Maturity-onset diabetes of the young type 10
Health Risk
RS144093133
Conflicting classifications of pathogenicity
INS-related disorder, INS-related disorder
Health Risk
RS148685531
Conflicting classifications of pathogenicity
Hyperproinsulinemia, Hyperproinsulinemia, Hyperproinsulinemia
Health Risk
RS1554920552
Conflicting classifications of pathogenicity
Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
Health Risk
RS1554920854
Conflicting classifications of pathogenicity
Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
Health Risk
RS1554920985
Conflicting classifications of pathogenicity
Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
Health Risk
All Variants (57)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1051986248 | Health Risk | Conflicting classifications of pathogenicity | Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus |
| RS1057524907 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Maturity-onset diabetes of the young type 10, Monogenic diabetes |
| RS11564720 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Maturity-onset diabetes of the young type 10, Inborn genetic diseases |
| RS121908259 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 10, INS-related disorder, Diabetes mellitus |
| RS121908260 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 10, Diabetes mellitus, permanent neonatal 4 |
| RS121908277 | Health Risk | Conflicting classifications of pathogenicity | Permanent neonatal diabetes mellitus, Diabetes mellitus, permanent neonatal 4 |
| RS139264769 | Health Risk | Conflicting classifications of pathogenicity | Type 1 diabetes mellitus 2, Hyperproinsulinemia, Maturity-onset diabetes of the young type 10 |
| RS144093133 | Health Risk | Conflicting classifications of pathogenicity | INS-related disorder, INS-related disorder |
| RS148685531 | Health Risk | Conflicting classifications of pathogenicity | Hyperproinsulinemia, Hyperproinsulinemia, Hyperproinsulinemia |
| RS1554920552 | Health Risk | Conflicting classifications of pathogenicity | Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus |
| RS1554920854 | Health Risk | Conflicting classifications of pathogenicity | Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus |
| RS1554920985 | Health Risk | Conflicting classifications of pathogenicity | Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus |
| RS1564911425 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 10, Neonatal insulin-dependent diabetes mellitus, Maturity-onset diabetes of the young type 10 |
| RS200306755 | Health Risk | Conflicting classifications of pathogenicity | Transient Neonatal Diabetes, Dominant/Recessive, Maturity-onset diabetes of the young type 10 |
| RS2495746652 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376867722 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 10, Transient Neonatal Diabetes, Dominant/Recessive |
| RS3842740 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 10, Maturity-onset diabetes of the young type 10 |
| RS3842753 | Health Risk | Conflicting classifications of pathogenicity | Hyperproinsulinemia, Maturity-onset diabetes of the young type 10, Type 1 diabetes mellitus 2 |
| RS565314634 | Health Risk | Conflicting classifications of pathogenicity | Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus |
| RS571342427 | Health Risk | Conflicting classifications of pathogenicity | Type 2 diabetes mellitus, INS-related disorder, Type 2 diabetes mellitus |
| RS765512575 | Health Risk | Conflicting classifications of pathogenicity | Transient Neonatal Diabetes, Dominant/Recessive, Maturity-onset diabetes of the young type 10 |
| RS773789432 | Health Risk | Conflicting classifications of pathogenicity | Transient Neonatal Diabetes, Dominant/Recessive, Maturity-onset diabetes of the young type 10 |
| RS778107057 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 10, Transient Neonatal Diabetes, Dominant/Recessive |
| RS80356671 | Health Risk | Conflicting classifications of pathogenicity | Permanent neonatal diabetes mellitus, Diabetes mellitus, permanent neonatal 4 |
| RS886041083 | Health Risk | Conflicting classifications of pathogenicity | Diabetes mellitus, permanent neonatal 4, Diabetes mellitus |
| RS886048111 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 10, Transient Neonatal Diabetes, Dominant/Recessive |
| RS886048112 | Health Risk | Conflicting classifications of pathogenicity | Transient Neonatal Diabetes, Dominant/Recessive, Maturity-onset diabetes of the young type 10 |
| RS915076855 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 10, Diabetes mellitus, permanent neonatal 4 |
| RS1225892123 | Health Risk | Likely pathogenic | INS-related disorder, INS-related disorder |
| RS1278232284 | Health Risk | Likely pathogenic | Neonatal diabetes mellitus, Neonatal diabetes mellitus |
| RS145038693 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 10, Neonatal insulin-dependent diabetes mellitus, Maturity-onset diabetes of the young type 10 |
| RS1564912274 | Health Risk | Likely pathogenic | Neonatal diabetes mellitus, Neonatal diabetes mellitus |
| RS2133672742 | Health Risk | Likely pathogenic | Neonatal diabetes mellitus, Neonatal diabetes mellitus |
| RS2133672778 | Health Risk | Likely pathogenic | Neonatal diabetes mellitus, Neonatal diabetes mellitus |
| RS2133672883 | Health Risk | Likely pathogenic | Neonatal diabetes mellitus, Neonatal diabetes mellitus |
| RS2133672927 | Health Risk | Likely pathogenic | — |
| RS2133676660 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 10, Maturity-onset diabetes of the young type 10 |
| RS2133676747 | Health Risk | Likely pathogenic | — |
| RS2495746594 | Health Risk | Likely pathogenic | INS-related disorder, INS-related disorder |
| RS397515519 | Health Risk | Likely pathogenic | Permanent neonatal diabetes mellitus, Type 1 diabetes mellitus 2, Hyperproinsulinemia |
| RS80356663 | Health Risk | Likely pathogenic | Permanent neonatal diabetes mellitus, Diabetes mellitus, permanent neonatal 4 |
| RS80356668 | Health Risk | Likely pathogenic/Likely risk allele | Hyperproinsulinemia, Permanent neonatal diabetes mellitus, Diabetes mellitus |
| RS121908273 | Health Risk | Likely risk allele | Diabetes mellitus, permanent neonatal 4, Diabetes mellitus |
| RS121908276 | Health Risk | Likely risk allele | Permanent neonatal diabetes mellitus, Diabetes mellitus, permanent neonatal 4 |
| RS121908278 | Health Risk | Likely risk allele | Maturity-onset diabetes of the young type 10, Maturity-onset diabetes of the young type 10 |
| RS1564912403 | Health Risk | Likely risk allele | Permanent neonatal diabetes mellitus, Neonatal insulin-dependent diabetes mellitus, Permanent neonatal diabetes mellitus |
| RS1845839718 | Health Risk | Likely risk allele | Diabetes mellitus, Type 1 diabetes mellitus 2, Diabetes mellitus |
| RS80356672 | Health Risk | Likely risk allele | Permanent neonatal diabetes mellitus, Diabetes mellitus, permanent neonatal 4 |
| RS28933985 | Health Risk | Pathogenic | Hyperproinsulinemia, INS-related disorder, Diabetes mellitus |
| RS748749585 | Health Risk | Pathogenic/Likely pathogenic | Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young type 10, Hyperproinsulinemia |