INS (insulin)

2007-02-01  

Identity

HGNC
LOCATION
11p15.5
LOCUSID
ALIAS
IDDM,IDDM1,IDDM2,ILPR,IRDN,MODY10,PNDM4
FUSION GENES

Other Information

Locus ID:

NCBI: 3630
MIM: 176730
HGNC: 6081
Ensembl: ENSG00000254647

Variants:

dbSNP: 3630
ClinVar: 3630
TCGA: ENSG00000254647
COSMIC: INS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000254647ENST00000250971P01308
ENSG00000254647ENST00000250971I3WAC9
ENSG00000254647ENST00000381330P01308
ENSG00000254647ENST00000381330I3WAC9
ENSG00000254647ENST00000397262P01308
ENSG00000254647ENST00000397262I3WAC9
ENSG00000254647ENST00000421783C9JNR5
ENSG00000254647ENST00000512523A6XGL2

Expression (GTEx)

0
500
1000
1500
2000
2500

Pathways

PathwaySourceExternal ID
Autophagy - animalKEGGko04140
mTOR signaling pathwayKEGGko04150
Regulation of actin cytoskeletonKEGGko04810
Insulin signaling pathwayKEGGko04910
Progesterone-mediated oocyte maturationKEGGko04914
Type II diabetes mellitusKEGGko04930
Type I diabetes mellitusKEGGko04940
Maturity onset diabetes of the youngKEGGko04950
Prostate cancerKEGGko05215
Autophagy - animalKEGGhsa04140
mTOR signaling pathwayKEGGhsa04150
Regulation of actin cytoskeletonKEGGhsa04810
Insulin signaling pathwayKEGGhsa04910
Type II diabetes mellitusKEGGhsa04930
Type I diabetes mellitusKEGGhsa04940
Maturity onset diabetes of the youngKEGGhsa04950
Prostate cancerKEGGhsa05215
Progesterone-mediated oocyte maturationKEGGhsa04914
Oocyte meiosisKEGGko04114
Oocyte meiosisKEGGhsa04114
Aldosterone-regulated sodium reabsorptionKEGGko04960
Aldosterone-regulated sodium reabsorptionKEGGhsa04960
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
HIF-1 signaling pathwayKEGGhsa04066
Insulin secretionKEGGhsa04911
Ovarian steroidogenesisKEGGhsa04913
Ovarian steroidogenesisKEGGko04913
Prolactin signaling pathwayKEGGhsa04917
Prolactin signaling pathwayKEGGko04917
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
Ras signaling pathwayKEGGhsa04014
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015
FoxO signaling pathwayKEGGhsa04068
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Regulation of lipolysis in adipocytesKEGGhsa04923
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
Peptide hormone metabolismREACTOMER-HSA-2980736
Insulin processingREACTOMER-HSA-264876
Synthesis, secretion, and deacylation of GhrelinREACTOMER-HSA-422085
Amyloid fiber formationREACTOMER-HSA-977225
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Signaling by the B Cell Receptor (BCR)REACTOMER-HSA-983705
Downstream signaling events of B Cell Receptor (BCR)REACTOMER-HSA-1168372
PIP3 activates AKT signalingREACTOMER-HSA-1257604
Negative regulation of the PI3K/AKT networkREACTOMER-HSA-199418
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
Role of LAT2/NTAL/LAB on calcium mobilizationREACTOMER-HSA-2730905
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
GAB1 signalosomeREACTOMER-HSA-180292
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor signalling cascadeREACTOMER-HSA-74751
IRS activationREACTOMER-HSA-74713
Signal attenuationREACTOMER-HSA-74749
Insulin receptor recyclingREACTOMER-HSA-77387
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
PI3K/AKT activationREACTOMER-HSA-198203
Signaling by PDGFREACTOMER-HSA-186797
Downstream signal transductionREACTOMER-HSA-186763
Signaling by SCF-KITREACTOMER-HSA-1433557
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356
Developmental BiologyREACTOMER-HSA-1266738
Regulation of beta-cell developmentREACTOMER-HSA-186712
Regulation of gene expression in beta cellsREACTOMER-HSA-210745
Insulin resistanceKEGGhsa04931
Phospholipase D signaling pathwayKEGGko04072
Phospholipase D signaling pathwayKEGGhsa04072
Longevity regulating pathwayKEGGhsa04211
COPI-mediated anterograde transportREACTOMER-HSA-6807878
Longevity regulating pathway - multiple speciesKEGGko04213
Longevity regulating pathway - multiple speciesKEGGhsa04213
PI5P, PP2A and IER3 Regulate PI3K/AKT SignalingREACTOMER-HSA-6811558

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
120869262002Lipid-induced insulin resistance in human muscle is associated with changes in diacylglycerol, protein kinase C, and IkappaB-alpha.347
206554702010Insulin signaling in osteoblasts integrates bone remodeling and energy metabolism.325
190203232008Genotype score in addition to common risk factors for prediction of type 2 diabetes.304
190739672008Shared and distinct genetic variants in type 1 diabetes and celiac disease.249
197677532009Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.225
191886092009Protection of synapses against Alzheimer's-linked toxins: insulin signaling prevents the pathogenic binding of Abeta oligomers.192
178555602007Insulin gene mutations as a cause of permanent neonatal diabetes.178
158890962005Expanded T cells from pancreatic lymph nodes of type 1 diabetic subjects recognize an insulin epitope.131
181625062008Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.107
181625062008Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.107

Citation

Dessen P

INS (insulin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46120/ins-(insulin)