IDE (insulin degrading enzyme)

2007-02-01  

Identity

HGNC
LOCATION
10q23.33
LOCUSID
ALIAS
INSULYSIN
FUSION GENES

Other Information

Locus ID:

NCBI: 3416
MIM: 146680
HGNC: 5381
Ensembl: ENSG00000119912

Variants:

dbSNP: 3416
ClinVar: 3416
TCGA: ENSG00000119912
COSMIC: IDE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119912ENST00000265986P14735
ENSG00000119912ENST00000371581P14735
ENSG00000119912ENST00000436178Q5T5N3
ENSG00000119912ENST00000478361R4GN65
ENSG00000119912ENST00000650060A0A3B3ISG5

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Alzheimer's diseaseKEGGko05010
Alzheimer's diseaseKEGGhsa05010
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DeubiquitinationREACTOMER-HSA-5688426
Ub-specific processing proteasesREACTOMER-HSA-5689880

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
172938762007A genome-wide association study identifies novel risk loci for type 2 diabetes.990
174632492007Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.887
171927852007Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.609
126344212003Insulin-degrading enzyme regulates the levels of insulin, amyloid beta-protein, and the beta-amyloid precursor protein intracellular domain in vivo.414
185913882008Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.129
170512212006Structures of human insulin-degrading enzyme reveal a new substrate recognition mechanism.117
178274002007Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies.97
155909282004Insulin-degrading enzyme as a downstream target of insulin receptor signaling cascade: implications for Alzheimer's disease intervention.91
178047622007Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function.86
186331082008Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population.86

Citation

Dessen P

IDE (insulin degrading enzyme)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43739/ide