Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3630
Gene name Gene Name - the full gene name approved by the HGNC.
Insulin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
INS
Synonyms (NCBI Gene) Gene synonyms aliases
IDDM, IDDM1, IDDM2, ILPR, IRDN, MODY10, PNDM4
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.5
Summary Summary of gene provided in NCBI Entrez Gene.
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 c
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT440450 hsa-miR-432-5p HITS-CLIP 24374217
MIRT440449 hsa-miR-544a HITS-CLIP 24374217
MIRT440448 hsa-miR-412-3p HITS-CLIP 24374217
MIRT440449 hsa-miR-544a HITS-CLIP 24374217
MIRT440448 hsa-miR-412-3p HITS-CLIP 24374217
Transcription factors
Transcription factor Regulation Reference
ATF2 Activation 21278380
ATF2 Unknown 10909971
GLIS3 Unknown 23856252
KLF11 Activation 18593768
KLF11 Unknown 15774581;18199129;21592955
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001819 Process Positive regulation of cytokine production IDA 15473891
GO:0002020 Function Protease binding IPI 20082125
GO:0002674 Process Negative regulation of acute inflammatory response IDA 11443198
GO:0005158 Function Insulin receptor binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
176730 6081 ENSG00000254647
Protein
UniProt ID P01308
Protein name Insulin [Cleaved into: Insulin B chain; Insulin A chain]
Protein 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.
PDB 1A7F , 1AI0 , 1AIY , 1B9E , 1BEN , 1EFE , 1EV3 , 1EV6 , 1EVR , 1FU2 , 1FUB , 1G7A , 1G7B , 1GUJ , 1HIQ , 1HIS , 1HIT , 1HLS , 1HTV , 1HUI , 1IOG , 1IOH , 1J73 , 1JCA , 1JCO , 1JK8 , 1K3M , 1KMF , 1LKQ , 1LPH , 1MHI , 1MHJ , 1MSO , 1OS3 , 1OS4 , 1Q4V , 1QIY , 1QIZ , 1QJ0 , 1RWE , 1SF1 , 1SJT , 1SJU , 1T0C , 1T1K , 1T1P , 1T1Q , 1TRZ , 1TYL , 1TYM , 1UZ9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00049 Insulin 28 109 Insulin/IGF/Relaxin family Domain
Sequence
Sequence length 110
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
cGMP-PKG signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Phospholipase D signaling pathway
Hormone signaling
Oocyte meiosis
Autophagy - animal
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Longevity regulating pathway
Longevity regulating pathway - multiple species
Regulation of actin cytoskeleton
Insulin signaling pathway
Insulin secretion
Ovarian steroidogenesis
Progesterone-mediated oocyte maturation
Prolactin signaling pathway
Regulation of lipolysis in adipocytes
Type II diabetes mellitus
Insulin resistance
Non-alcoholic fatty liver disease
Type I diabetes mellitus
Maturity onset diabetes of the young
Aldosterone-regulated sodium reabsorption
Alzheimer disease
Prostate cancer
Diabetic cardiomyopathy
  Insulin processing
Synthesis, secretion, and deacylation of Ghrelin
COPI-mediated anterograde transport
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
IRS activation
Signal attenuation
Insulin receptor signalling cascade
Signaling by Insulin receptor
Insulin receptor recycling
FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
Amyloid fiber formation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Diabetes Mellitus permanent neonatal diabetes mellitus, Diabetes mellitus, permanent neonatal 4, diabetes mellitus, neonatal diabetes mellitus rs748749585, rs80356669, rs80356663, rs397515519 N/A
Hyperproinsulinemia hyperproinsulinemia rs148685531, rs80356668, rs28933985 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cervical Cancer Cervical cancer N/A N/A GWAS
Diabetes Type 1 diabetes N/A N/A GWAS
Diabetes Type 2 diabetes, Latent autoimmune diabetes vs. type 2 diabetes, Severe autoimmune type 2 diabetes, maturity-onset diabetes of the young type 10, maturity-onset diabetes of the young N/A N/A GWAS, GenCC
Mason type diabetes maturity onset diabetes mellitus in young N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
3C syndrome Inhibit 40244011
6q24 Related Transient Neonatal Diabetes Mellitus Inhibit 24827651
AA amyloidosis Associate 21115952, 33767265, 35595809, 9560308
AA amyloidosis Inhibit 24654599
Abnormalities Drug Induced Associate 12507914
Abortion Habitual Inhibit 21517693
Acanthosis Nigricans Associate 29430577
Acidosis Lactic Associate 31630688
Acidosis Lactic Stimulate 34419042
Acne Vulgaris Associate 38009017