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Aliases for INS Gene

Aliases for INS Gene

  • Insulin 2 3 5
  • Insulin-Dependent Diabetes Mellitus 2 2
  • Preproinsulin 3
  • Proinsulin 3
  • MODY10 3
  • IDDM1 3
  • IDDM2 3
  • IDDM 3
  • ILPR 3
  • IRDN 3

External Ids for INS Gene

Previous HGNC Symbols for INS Gene

  • IDDM2
  • IDDM1

Previous GeneCards Identifiers for INS Gene

  • GC11U990070
  • GC11M002268
  • GC11M002140
  • GC11M002145
  • GC11M002137
  • GC11M002106
  • GC11M002125
  • GC11M002153
  • GC11M001971
  • GC11M002181

Summaries for INS Gene

Entrez Gene Summary for INS Gene

  • 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, Jun 2010]

GeneCards Summary for INS Gene

INS (Insulin) is a Protein Coding gene. Diseases associated with INS include diabetes mellitus, permanent neonatal and maturity-onset diabetes of the young, type 10. Among its related pathways are Signaling by GPCR and Metabolism. GO annotations related to this gene include identical protein binding and protease binding. An important paralog of this gene is INS-IGF2.

UniProtKB/Swiss-Prot for INS Gene

  • 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.

Gene Wiki entry for INS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INS Gene

Genomics for INS Gene

Regulatory Elements for INS Gene

Genomic Location for INS Gene

Chromosome:
11
Start:
2,159,779 bp from pter
End:
2,161,341 bp from pter
Size:
1,563 bases
Orientation:
Minus strand

Genomic View for INS Gene

Genes around INS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INS Gene

Proteins for INS Gene

  • Protein details for INS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01308-INS_HUMAN
    Recommended name:
    Insulin
    Protein Accession:
    P01308
    Secondary Accessions:
    • Q5EEX2

    Protein attributes for INS Gene

    Size:
    110 amino acids
    Molecular mass:
    11981 Da
    Quaternary structure:
    • Heterodimer of a B chain and an A chain linked by two disulfide bonds.
    SequenceCaution:
    • Sequence=AAA59179.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for INS Gene

    Alternative splice isoforms for INS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INS Gene

Proteomics data for INS Gene at MOPED

Post-translational modifications for INS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for INS (Insulin)

No data available for DME Specific Peptides for INS Gene

Domains & Families for INS Gene

Gene Families for INS Gene

Protein Domains for INS Gene

Suggested Antigen Peptide Sequences for INS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P01308

UniProtKB/Swiss-Prot:

INS_HUMAN :
  • Belongs to the insulin family.
Family:
  • Belongs to the insulin family.
genes like me logo Genes that share domains with INS: view

Function for INS Gene

Molecular function for INS Gene

GENATLAS Biochemistry:
insulin
UniProtKB/Swiss-Prot 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.

LifeMap Function Summary for INS Gene

INS as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
genes like me logo Genes that share phenotypes with INS: view

Human Phenotype Ontology for INS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for INS Gene

MGI Knock Outs for INS:

Animal Model Products

miRNA for INS Gene

miRTarBase miRNAs that target INS

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for INS Gene

Localization for INS Gene

Subcellular locations from UniProtKB/Swiss-Prot for INS Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for INS Gene COMPARTMENTS Subcellular localization image for INS gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
endosome 4
cytosol 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for INS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane TAS --
GO:0034774 secretory granule lumen TAS --
genes like me logo Genes that share ontologies with INS: view

Pathways & Interactions for INS Gene

SuperPathways for INS Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 PI3K events in ERBB4 signaling
3 Translation Insulin regulation of translation
4 Transport to the Golgi and subsequent modification
5 Immune System
genes like me logo Genes that share pathways with INS: view

SIGNOR curated interactions for INS Gene

Gene Ontology (GO) - Biological Process for INS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IDA 11278339
GO:0002674 negative regulation of acute inflammatory response IDA 11443198
GO:0006006 glucose metabolic process IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 12881524
GO:0006521 regulation of cellular amino acid metabolic process IMP 3553851
genes like me logo Genes that share ontologies with INS: view

Drugs & Compounds for INS Gene

(81) Drugs for INS Gene - From: Novoseek, ApexBio, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
m-Cresol Experimental Pharma Target 0
MYRISTIC ACID Experimental Pharma Target 0
MSDC-0160 Pharma mTOT-modulating insulin sensitizer 0

(50) Additional Compounds for INS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for INS Gene

Compound Action Cas Number
MSDC-0160 mTOT-modulating insulin sensitizer 146062-49-9
genes like me logo Genes that share compounds with INS: view

Transcripts for INS Gene

Alternative Splicing Database (ASD) splice patterns (SP) for INS Gene

No ASD Table

Relevant External Links for INS Gene

GeneLoc Exon Structure for
INS
ECgene alternative splicing isoforms for
INS

Expression for INS Gene

mRNA expression in normal human tissues for INS Gene

mRNA differential expression in normal tissues according to GTEx for INS Gene

This gene is overexpressed in Pancreas (x52.8).

Protein differential expression in normal tissues from HIPED for INS Gene

This gene is overexpressed in Islet of Langerhans (36.1) and Ovary (32.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for INS Gene



genes like me logo Genes that share expression patterns with INS: view

Protein tissue co-expression partners for INS Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for INS Gene

Orthologs for INS Gene

This gene was present in the common ancestor of chordates.

Orthologs for INS Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia INS 35
  • 86.06 (n)
  • 88.18 (a)
mouse
(Mus musculus)
Mammalia Ins2 35
  • 82.42 (n)
  • 81.82 (a)
Ins2 16
Ins1 36
  • 80 (a)
OneToMany
Ins2 36
  • 82 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia INS 35
  • 98.18 (n)
  • 98.18 (a)
INS 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ins2 35
  • 81.21 (n)
  • 82.73 (a)
cow
(Bos Taurus)
Mammalia INS 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves INS 35
  • 65.42 (n)
  • 65.42 (a)
INS 36
  • 64 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ins 35
  • 64.08 (n)
  • 61.17 (a)
zebrafish
(Danio rerio)
Actinopterygii ins 35
  • 61.78 (n)
  • 58.67 (a)
ins 36
  • 44 (a)
ManyToMany
insb 36
  • 31 (a)
ManyToMany
Species with no ortholog for INS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for INS Gene

ENSEMBL:
Gene Tree for INS (if available)
TreeFam:
Gene Tree for INS (if available)

Paralogs for INS Gene

Paralogs for INS Gene

(3) SIMAP similar genes for INS Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with INS: view

Variants for INS Gene

Sequence variations from dbSNP and Humsavar for INS Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_003971 Hyperproinsulinemia (HPRI)
VAR_003972 -
VAR_003973 -
VAR_003974 Hyperproinsulinemia (HPRI)
VAR_003975 Hyperproinsulinemia (HPRI)

Structural Variations from Database of Genomic Variants (DGV) for INS Gene

Variant ID Type Subtype PubMed ID
nsv467645 CNV Gain 19166990
dgv992n71 CNV Loss 21882294
nsv896776 CNV Loss 21882294
dgv994n71 CNV Loss 21882294
dgv995n71 CNV Loss 21882294
dgv997n71 CNV Loss 21882294
nsv896793 CNV Gain 21882294
nsv896796 CNV Loss 21882294
nsv896797 CNV Loss 21882294
nsv896798 CNV Loss 21882294

Variation tolerance for INS Gene

Residual Variation Intolerance Score: 48.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for INS Gene

HapMap Linkage Disequilibrium report
INS
Human Gene Mutation Database (HGMD)
INS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INS Gene

Disorders for INS Gene

MalaCards: The human disease database

(70) MalaCards diseases for INS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetes mellitus, permanent neonatal
  • diabetes, permanent neonatal
maturity-onset diabetes of the young, type 10
  • maturity-onset diabetes of the young type 10
hyperproinsulinemia
  • hpri
diabetes mellitus, insulin-dependent, 2
  • iddm2
maturity-onset diabetes of the young
  • mason-type diabetes
- elite association - COSMIC cancer census association via MalaCards
Search INS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

INS_HUMAN
  • Diabetes mellitus, insulin-dependent, 2 (IDDM2) [MIM:125852]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:18192540}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. {ECO:0000269 PubMed:17855560, ECO:0000269 PubMed:18162506}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hyperproinsulinemia (HPRI) [MIM:616214]: An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material. {ECO:0000269 PubMed:1601997, ECO:0000269 PubMed:2196279, ECO:0000269 PubMed:3470784, ECO:0000269 PubMed:4019786}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269 PubMed:18162506, ECO:0000269 PubMed:18192540, ECO:0000269 PubMed:20226046, ECO:0000269 PubMed:25423173}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for INS Gene

diabetes,with hyperproinsulinemia,putative susceptibility factor for obesity in association with IgF2 in British population

Relevant External Links for INS

Genetic Association Database (GAD)
INS
Human Genome Epidemiology (HuGE) Navigator
INS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
INS
genes like me logo Genes that share disorders with INS: view

Publications for INS Gene

  1. Insulin 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. (PMID: 18162506) Edghill E.L. … Ellard S. (Diabetes 2008) 3 4 48 67
  2. Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention. (PMID: 20007936) Meur G. … Vaxillaire M. (Diabetes 2010) 3 23
  3. Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted. (PMID: 20034470) Park S.Y. … Bell G.I. (Biochem. Biophys. Res. Commun. 2010) 3 23
  4. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. (PMID: 20133622) Garin I. … Hattersley A.T. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 23
  5. Insulin inhibits tissue factor expression in monocytes. (PMID: 18983503) Gerrits A.J. … Akkerman J.W. (J. Thromb. Haemost. 2009) 3 23

Products for INS Gene

Sources for INS Gene

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