INS

Gene Information
 
Gene Symbol
INS
 
Aliases
IDDM, IDDM1, IDDM2, ILPR, IRDN, MODY10
 
Entrez Gene ID
 
Gene Name
Insulin
 
Chromosomal Location
11p15.5
 
HGNC ID
 
Summary
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. 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. Alternative splicing results in multiple transcript variants. (provided by RefSeq)
 
GeneCards ID
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0000165 Biological process MAPKKK cascade IDA 11278339
GO:0002674 Biological process Negative regulation of acute inflammatory response IDA 11443198
GO:0006355 Biological process Regulation of transcription, DNA-dependent NAS 12881524
GO:0006521 Biological process Regulation of cellular amino acid metabolic process IMP 3553851
GO:0006953 Biological process Acute-phase response IDA 14739855
Protein Information
 
Protein Name
Insulin A chain
 
Function
Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00049 Insulin Insulin/IGF/Relaxin family
 
KEGG
 
OMIM
 
Phenotype MIM ID
 
Interactions

Associated Diseases

Diseases References
Acanthosis nigricans 9699325
Androgen Excess 8604605
Cardiovascular disease 8736268
Dyslipidaemia 11894979
Hyperandrogenemia 23697264, 25220536, 24677210, 22344736, 19948072, 19595057, 19107500, 19080630, 18832802, 18334581, 18173145, 17953969, 17488794, 17276431, 15705917, 15498184, 12095507, 11293919, 10588520, 10561001, 9150702, 8034073, 3311782, 24040456, 22564702, 22575725, 23748472, 21853931, 22527903, 21827375, 20840271, 20130411, 20045799, 19549442, 18680073, 17141766, 16785159, 16600233, 16316841, 15853827, 15472214, 14671186, 12615821, 11836319, 22419715, 22107332, 14737959, 12230452, 9024269, 8941059, 8915661, 8966389, 8845652, 8028500, 1835937, 1940062, 23685425, 22621829, 20504873, 21270326, 19240152, 17445806, 21970639, 21908093, 20137676, 8561874, 17454173, 23415973, 9302393, 9596926, 17559844, 8405515
   
References
 
Primary:
PMID: 1424179

Postprandial thermogenesis is reduced in polycystic ovary syndrome and is associated with increased insulin resistance.

Robinson S, Chan S P, Spacey S, Anyaoku V, Johnston D G, Franks S
Unit of Metabolic Medicine, St Mary's Hospital Medical School, London, UK.
Clin Endocrinol (Oxf). 1992 Jun;36(6):537-43.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Obesity 
 
 
Related 
21 obese women with PCO, 18 obese women without menstrual disturbances and 9 normal-weight healthy women 
obese women with PCO insulin influence ovarian androgen production 
Androgen and IGFBPs 
 
 
 
Related 
Women undergoing IVF for tubal disease 
Androgen and insulin are important regulators of IGFBP release and that elevated levels of the two hormones may contribute to the altered IGFBP profile found in PCOS follicles 
Androgen and CD(36) 
 
 
 
Related 
12 patients with asymmetric PCO, 15 primary or secondary infertile patients without endocrine disorders and 8 PCOS with bilateral PCO were recruited 
Decrease of scavenger receptor gene CD(36) mRNA may play a role in the pathogenesis of PCO by increasing the level of T and INSin follicular fluid. 
TNF-alpha 
Hyperinsulinaemia  
 
 
Related 
20 young non-diabetic women with PCOS and 21 control 
The decrease in TNF-alpha concentrations during oGTT and the inverse correlation between endogenous hyperinsulinaemia and serum TNF-alpha concentrations suggested an anti-inflammatory effect of moderately-high insulin concentrations. This occurred despite the presence of moderate hyperglycaemia. These findings also demonstrated a preserved responsiveness of inflammatory mediators to insulin in PCOS. 
GH and Glucose 
 
 
Rotterdam criteria 
Related 
20 obese women with PCOS, and 15 obese controls. 
The injection of ghrelin seems to override the GH secretion defect in obese women with PCOS, and to induce glucoinsulinemic changes in both controls and obese patients with PCOS. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26426700
Association between left ventricular mass, androgens, adiposity, and insulin resistance in girls with precocious pubarche: a case-control study. 
Clinical study 
26426277
Aerobic exercise improves cardiac autonomic modulation in women with polycystic ovary syndrome. 
Effect of treatment 
26422683
High-visfatin levels in women with polycystic ovary syndrome: evidence from a meta-analysis. 
Clinical study 
26416764
Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. 
In vitro 
26406234
Effects of High Intensity Interval Training and Strength Training on Metabolic, Cardiovascular and Hormonal Outcomes in Women with Polycystic Ovary Syndrome: A Pilot Study. 
Clinical study 

 

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