INS insulin
Gene ID: 3630, updated on 2-Nov-2024Gene type: protein coding
Also known as: IDDM; ILPR; IRDN; IDDM1; IDDM2; PNDM4; MODY10
- See all available tests in GTR for this gene
- Go to complete Gene record for INS
- Go to Variation Viewer for INS variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. GeneReviews: Not available | |
| A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. GeneReviews: Not available | |
| Diabetes mellitus, permanent neonatal 4 | not available |
| Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. GeneReviews: Not available | |
| Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. GeneReviews: Not available | |
| Hyperproinsulinemia | not available |
| Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. GeneReviews: Not available | |
| Maturity-onset diabetes of the young type 10 | not available |
| Permanent neonatal diabetes mellitus MedGen: C1833104GeneReviews: Permanent Neonatal Diabetes Mellitus | not available |
| Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. GeneReviews: Not available | |
| Type 1 diabetes mellitus 2 | not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-03-22) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-03-22) ClinGen Genome Curation Page |
Genomic context
- Location:
- 11p15.5
- Sequence:
- Chromosome: 11; NC_000011.10 (2159779..2161209, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for INS variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- INS database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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