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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 chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the ... See more...
Aliases for INS Gene
Aliases for INS Gene
External Ids for INS Gene
- HGNC: 6081
- NCBI Entrez Gene: 3630
- Ensembl: ENSG00000254647
- OMIM®: 176730
- UniProtKB/Swiss-Prot: P01308
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
-
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 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, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. 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. [provided by RefSeq, May 2020]
GeneCards Summary for INS Gene
INS (Insulin) is a Protein Coding gene. Diseases associated with INS include Maturity-Onset Diabetes Of The Young, Type 10 and Hyperproinsulinemia. Among its related pathways are RET signaling and Beta-Adrenergic Signaling. Gene Ontology (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 Summary 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.
Additional gene information for INS Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for INS Gene
Genomics for INS Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for INS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around INS on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for INS
- Top Transcription factor binding sites by QIAGEN in the INS gene promoter:
-
- AP-1
- CREB
- deltaCREB
- GR
- GR-alpha
Genomic Locations for INS Gene
Latest Assembly
- chr11:2,159,779-2,161,221
- (GRCh38/hg38)
- Size:
- 1,443 bases
- Orientation:
- Minus strand
Previous Assembly
- chr11:2,181,009-2,182,439
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 1,431 bases
- Orientation:
- Minus strand
Genomic View for INS Gene
Genes around INS on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p15.5 by HGNC
- 11p15.5 by Entrez Gene
- 11p15.5 by Ensembl
INS Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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 (PubMed:25423173).
- SequenceCaution:
-
- Sequence=AAA59179.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for INS Gene
Protein Expression for INS Gene
Post-translational modifications for INS Gene
Other Protein References for INS Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences Insulin Antibody and Insulin Monoclonal Antibody
- RayBiotech Rabbit Anti-Human C-Peptide
- NSJ Bioreagents Insulin Antibody (Rabbit Monoclonal)
- GeneTex Anti-Insulin antibody and Anti-Proinsulin antibody [3A1]
- Human/Mouse/Bovine Insulin Alexa Fluor 647-conjugated Antibody (IC1417R)
- Human/Mouse/Bovine Insulin Antibody (MAB1417)
- Human/Mouse Proinsulin Alexa Fluor 647-conjugated Antibody (IC13361R)
- Human/Mouse Proinsulin Antibody (MAB13361)
- Human C-Peptide Antibody (MAB14171)
- Human C-Peptide Antibody (MAB80561)
-
Custom Antibody ServicesOriGene Antibodies for INS
- 20056
- 2I1-3A6
- 2I1-7F5
- 2I1-7F8
- 2I1-8E2
- 2I1-C7C9
- 2I1-D4B8
- 2IP10-D3E7
- 2IP10-D6C4
- 2P9-1D6
- 2P9-1G4
- 2P9-3A1
- 2PR8-CCI-17
- AB0159-200
- AM02306PU-N
- AM05475PU-N
- AM08397HR-N
- AM20632PU-N
- AM31577PU-N
- AM32185PU-N
- AM33363PU-S
- AM33363PU-T
- AM50123PU-S
- AM50123PU-T
- AM50124PU-S
- AM50124PU-T
- AP02014SU-N
- AP02014SU-S
- AP02083SU-N
- AP02083SU-S
- AP08124PU-N
- AP08124PU-S
- AP20659PU-N
- AP31590PU-N
- AP31590PU-S
- AP32995AF-N
- AP32995FC-N
- BM4073
- BM4073S
- BM504P
- BM505
- BM507
- BM508
- BP5053
- EUD651
- TA319541
- TA347869
- TA350640
- TA354198
- Novus Biologicals Antibodies for INS
-
Abcam antibodies for INS
- Invitrogen Antibodies for INS (AFLGC-INS)
- antibodies-online: Show 286 available Pro-Insulin Antibodies ranked by validation data
- Compare Top Pro-Insulin Antibodies
-
Recommended
- 207 IHC (p) Antibodies (anti-human)
- 188 WB Antibodies (anti-human)
- 84 IHC (f) Antibodies (anti-human)
- 65 IHC Antibodies (anti-human)
- 60 IF (p) Antibodies (anti-human)
- 30 FACS Antibodies (anti-human)
- 25 IHC (fro) Antibodies (anti-human)
- 21 ISt Antibodies (anti-human)
- 15 RIA Antibodies (anti-human)
- 6 IP Antibodies (anti-human)
- 4 EIA Antibodies (anti-human)
- 2 IHC (fp) Antibodies (anti-human)
- 1 ICC Antibody (anti-human)
- 1 IRMA Antibody (anti-human)
- 99 IHC (p) Antibodies (anti-mouse)
- 86 WB Antibodies (anti-mouse)
- 84 IHC (f) Antibodies (anti-mouse)
- 26 FACS Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 21 ISt Antibodies (anti-mouse)
- 16 IHC Antibodies (anti-mouse)
- 5 IHC (fro) Antibodies (anti-mouse)
- 4 IP Antibodies (anti-mouse)
- 1 ICC Antibody (anti-mouse)
- 84 IHC (f) Antibodies (anti-cow)
- 80 WB Antibodies (anti-cow)
- 69 IHC (p) Antibodies (anti-cow)
- 21 ISt Antibodies (anti-cow)
- 18 IHC (fro) Antibodies (anti-cow)
- 16 FACS Antibodies (anti-cow)
- 16 IHC Antibodies (anti-cow)
- 10 RIA Antibodies (anti-cow)
- 1 EIA Antibody (anti-cow)
- 1 ICC Antibody (anti-cow)
- 1 IHC (fp) Antibody (anti-cow)
-
Santa Cruz Biotechnology (SCBT) Antibodies for INS
- Sino Biological Antibodies for INS
Protein products for research
- RayBiotech Recombinant Human Insulin
-
OriGene Purified Proteins for INS
- Search Origene for MassSpec and Protein Over-expression Lysates for INS
- Origene Custom Protein Services for INS
- Sino Biological Recombinant Proteins for INS
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for INS
Assay products for research
- G Biosciences Immunotag™ Human INS (Insulin) ELISA and Immunotag™ Insulin ELISA Kit
- Quantikine Immunoassay Control Set 811 for Human Proinsulin (QC148)
- Human Proinsulin Quantikine ELISA Kit (DPINS0)
- Quantikine Immunoassay Control Set 801 Human Insulin C-Pep (QC108)
- Human/Canine/Porcine Insulin Quantikine ELISA Kit (DINS00)
- Human C-Peptide Quantikine ELISA Kit (DICP00)
- Human C-Peptide DuoSet ELISA (DY9625-05)
- Novus Biologicals ELISA Kits for INS
- antibodies-online: Show 218 available Pro-Insulin Elisa Kits ranked by validation data
- Compare Top Pro-Insulin Elisa Kits
-
Quality Products:
- ABIN6574079
- ABIN625032
- ABIN2506949
- ABIN1873331
- ABIN816535
- ABIN455435
- ABIN649043
- ABIN4947697
- ABIN2703271
- ABIN6574071
- ABIN6574080
- ABIN366323
- ABIN415467
- ABIN1979550
- ABIN5519213
- ABIN5520034
- ABIN2669917
- ABIN2703269
- ABIN2684753
- ABIN6574081
- ABIN416266
- ABIN366470
- ABIN4993536
- ABIN5520038
- ABIN1979556
- ABIN2684755
- ABIN1873118
- ABIN431286
- ABIN365725
- ABIN2866580
- ABIN5519240
- ABIN5596605
- ABIN5518554
- ABIN5591736
- ABIN455438
-
Boster Bio ELISA Kits for INS
-
Abcam assays for INS
No data available for DME Specific Peptides for INS Gene
Domains & Families for INS Gene
Gene Families for INS Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Candidate cardiovascular disease genes
- Disease related genes
- Plasma proteins
- Predicted secreted proteins
Protein Domains for INS Gene
- InterPro:
- Blocks:
-
- Insulin/IGF/relaxin
Suggested Antigen Peptide Sequences for INS Gene
- GenScript: Design optimal peptide antigens:
-
- Insulin (F6MZK5_HUMAN)
- Insulin (INS_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P01308- Family:
-
- Belongs to the insulin family.
Function for INS Gene
Molecular function for INS Gene
- 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.
- GENATLAS Biochemistry:
- insulin
LifeMap Function Summary for INS Gene
It affects the following cells:
- Adipose
INS as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
- Brain
- Neurons
- Blood
- Neural Tube
- Adipose
- Epidermis
- Ectoderm
- Kidney
- Mesenchymal Stem Cells
- Eye
- Epithelial Cells
-
and also in
- B27-induced cells
- Bone morphogenetic protein 4/ascorbic acid-induced cells
- Culture-transduced mouse embryonic fibroblasts
- Culture-transduced Tau-GFP mouse embryonic fibroblasts
- Dex-induced cells
- Ectoderm-like cells
- EGF-induced cells
- Neural stem cells
- Neurospheres
- Primary spheres
- Retinoic acid-induced embryoid bodies
- Secondary spheres
- Vascular endothelial growth factor-induced embryoid bodies
Phenotypes From GWAS Catalog for INS Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002020 | protease binding | IPI | 20082125 |
| GO:0005158 | insulin receptor binding | IPI | 8452530 |
| GO:0005159 | insulin-like growth factor receptor binding | ISS,IPI | 8452530 |
| GO:0005179 | hormone activity | IEA,NAS | 14986111 |
| GO:0005515 | protein binding | IPI | 9388210 |
Phenotypes for INS Gene
- MGI mutant phenotypes for INS:
-
inferred from 15 alleles
- normal phenotype
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- renal/urinary system phenotype
- liver/biliary system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- adipose tissue phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for INS:
Animal Models for INS Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for INS - Starting at $85 >
- * INS CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for INS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for INS
-
Santa Cruz Biotechnology (SCBT) CRISPR for INS
miRNA for INS Gene
- miRTarBase miRNAs that target INS
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for INS
- Browse OriGene Inhibitory RNA Products For INS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INS
Clone products for research
- Applied Biological Materials (abm): Clones for INS - Starting at $45 >
- * INS as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for INS
- Addgene plasmids for INS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for INS
Cell Lines for research
-
Horizon Cell Lines for INS
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for INS Gene
Localization for INS Gene
Subcellular locations from UniProtKB/Swiss-Prot for INS Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| endosome | 5 |
| golgi apparatus | 5 |
| plasma membrane | 4 |
| mitochondrion | 4 |
| nucleus | 4 |
| cytosol | 4 |
| cytoskeleton | 3 |
| peroxisome | 3 |
| lysosome | 3 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005576 | extracellular region | IEA,TAS | -- |
| GO:0005615 | extracellular space | ISS,IDA | 9667398 |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
| GO:0005796 | Golgi lumen | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for INS Gene
Pathways & Interactions for INS Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
|
| 2 | Regulation of lipid metabolism Insulin signaling-generic cascades |
Regulation of lipid metabolism Insulin signaling-generic cascades
.59
Translation Insulin regulation of translation
.59
Transcription Receptor-mediated HIF regulation
.51
Translation Regulation of EIF2 activity
.47
|
.01
|
| 3 | PI3K/AKT activation |
.89
|
|
| 4 | Transport to the Golgi and subsequent modification | ||
| 5 | Regulation of beta-cell development | ||
Pathways by source for INS Gene
2 Sino Biological pathways for INS Gene
21 BioSystems pathways for INS Gene
44 Reactome pathways for INS Gene
2 PharmGKB pathways for INS Gene
30 KEGG pathways for INS Gene
5 GeneGo (Thomson Reuters) pathways for INS Gene
- Regulation of lipid metabolism Insulin signaling-generic cascades
- Transcription Receptor-mediated HIF regulation
- Transcription_Transcription factor Tubby signaling pathways
- Translation Regulation of EIF2 activity
- Translation Insulin regulation of translation
3 R&D Systems pathways for INS Gene
9 Qiagen pathways for INS Gene
- AMPK Enzyme Complex Pathway
- eIF2 Pathway
- Insulin Receptor Pathway
- MODY (Maturity-Onset Diabetes of Young)
- mTOR Pathway
1 Cell Signaling Technology pathway for INS Gene
1 GeneTex pathway for INS Gene
Interacting Proteins for INS Gene
Selected Interacting proteins:
P01308-INS_HUMAN
ENSP00000380432
for INS Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for INS
SIGNOR curated interactions for INS Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001819 | positive regulation of cytokine production | IDA | 15473891 |
| GO:0002674 | negative regulation of acute inflammatory response | IDA | 11443198 |
| GO:0005975 | carbohydrate metabolic process | IEA | -- |
| GO:0006006 | glucose metabolic process | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | NAS | 12881524 |
Drugs & Compounds for INS Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Zinc | Approved, Investigational | Pharma | Target | 1706 | ||
| zinc acetate | Approved, Investigational | Pharma | Target | 0 | ||
| Zinc chloride | Approved, Investigational | Pharma | Target, stabilization | 0 | ||
| Zinc sulfate, unspecified form | Approved, Experimental | Pharma | Target, stabilization | 0 | ||
| m-Cresol | Experimental | Pharma | Target | 0 |
| 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 |
Transcripts for INS Gene
mRNA/cDNA for INS Gene
- 4 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000250971 503 nts (view in UCSC)
- ENST00000381330 465 nts (view in UCSC)
- ENST00000397262 639 nts (view in UCSC)
- ENST00000421783 464 nts (view in UCSC)
- ENST00000512523 297 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for INS - Starting at $85 >
- * INS CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for INS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for INS
-
Santa Cruz Biotechnology (SCBT) CRISPR for INS
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for INS
- Browse OriGene Inhibitory RNA Products For INS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INS
Clone products for research
- Applied Biological Materials (abm): Clones for INS - Starting at $45 >
- * INS as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for INS
- Addgene plasmids for INS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for INS
Relevant External Links for INS Gene
- GeneLoc Exon Structure for
- INS
Expression for INS Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Pancreas (Endocrine System)
- Immature Beta Progenitor Cells Dorsal Pancreatic Bud
- Intermediate Beta Progenitor Cells Ventral Pancreatic Bud
- Immature Beta Progenitor Cells Ventral Pancreatic Bud
- Intermediate Beta Progenitor Cells Dorsal Pancreatic Bud
- Mature Beta Cells Islets of Langerhans
- NULL (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for INS Gene
This gene is overexpressed in Pancreas (x52.8).
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 and MOPED for INS Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for INS
Evidence on tissue expression from TISSUES for INS Gene
- Pancreas(4.8)
- Blood(4.8)
- Muscle(3.7)
- Liver(3.7)
- Nervous system(3.5)
- Heart(3.4)
- Skin(3.3)
- Kidney(3.3)
- Intestine(3.2)
- Urine(3.1)
- Thyroid gland(3)
- Adrenal gland(3)
- Bone(2.9)
- Stomach(2.9)
- Bone marrow(2.7)
- Eye(2.6)
- Spleen(2.6)
- Lung(2.6)
- Lymph node(2.5)
- Gall bladder(2.3)
- Saliva(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for INS Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- ear
- eye
- eyelid
- face
- forehead
- head
- lip
- nose
- skull
Thorax:
- chest wall
- heart
Abdomen:
- abdominal wall
- kidney
- pancreas
Pelvis:
- penis
- placenta
- uterus
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for INS
-
OriGene qPCR primer pairs and template standards for INS
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | INS 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | INS 29 |
|
||
| Cow (Bos Taurus) |
Mammalia | INS 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ins2 29 16 30 |
|
OneToMany | |
| Ins1 30 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Ins2 29 |
|
||
| Chicken (Gallus gallus) |
Aves | INS 29 30 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ins 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ins 29 30 |
|
ManyToMany | |
| insb 30 |
|
ManyToMany |
- Species where no ortholog for INS was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for INS: view image
- Alliance of Genome Resources:
- Additional Orthologs for INS
Paralogs for INS Gene
Variants for INS Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for INS Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 878501 | Uncertain Significance: Maturity-onset diabetes of the young, type 10; Transient Neonatal Diabetes, Dominant/Recessive | 2,160,770(-) |
G/T NM_000207.3(INS):c.187+15C>A |
INTRON | |
| 880304 | Benign/Likely Benign: Maturity-onset diabetes of the young, type 10; Transient Neonatal Diabetes, Dominant/Recessive; not provided | 2,160,900(-) |
G/T NM_000207.3(INS):c.72C>A (p.Ala24=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| 916729 | Likely Pathogenic: Diabetes mellitus | 2,160,797(-) |
CT/C NM_000207.3(INS):c.174del (p.Glu59fs) |
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT | |
| 918067 | Likely Pathogenic: Diabetes mellitus | 2,159,899(-) |
A/G NM_000207.3(INS):c.286T>C (p.Cys96Arg) |
MISSENSE_VARIANT,INTRON | |
| 931331 | Pathogenic: Maturity-onset diabetes of the young, type 10 | 2,160,817(-) |
G/A NM_000207.3(INS):c.155C>T (p.Pro52Leu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1566n54 | CNV | loss | 21841781 |
| dgv1567n54 | CNV | loss | 21841781 |
| nsv467645 | CNV | gain | 19166990 |
| nsv553047 | CNV | gain | 21841781 |
| nsv553068 | CNV | loss | 21841781 |
| nsv553069 | CNV | loss | 21841781 |
| nsv553070 | CNV | loss | 21841781 |
| nsv553076 | CNV | loss | 21841781 |
| nsv553077 | CNV | loss | 21841781 |
| nsv553078 | CNV | loss | 21841781 |
| nsv951284 | CNV | deletion | 24416366 |
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)
Additional Variant Information for INS Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INS Gene
Disorders for INS Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| maturity-onset diabetes of the young, type 10 |
|
|
| hyperproinsulinemia |
|
|
| diabetes mellitus, permanent neonatal, 4 |
|
|
| type 1 diabetes mellitus 2 |
|
|
| maturity-onset diabetes of the young |
|
Search INS in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
INS_HUMAN- 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 variants affecting the gene represented in this entry.
- 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 variants affecting the gene represented in this entry.
- Diabetes mellitus, permanent neonatal 4 (PNDM4) [MIM:618858]: A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. PNDM4 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance. {ECO:0000269 PubMed:17855560, ECO:0000269 PubMed:18162506}. Note=The disease is caused by variants 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 variants 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
Additional Disease Information for INS
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
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Publications for INS Gene
- 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 EL … Ellard S (Diabetes 2008) 3 4 22 40 72
- Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. (PMID: 18192540) Molven A … Njølstad PR (Diabetes 2008) 3 4 22 72
- Insulin gene mutations as a cause of permanent neonatal diabetes. (PMID: 17855560) Støy J … Neonatal Diabetes International Collaborative Group (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22 72
- Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. (PMID: 20133622) Garin I … Hattersley AT (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 22 72
- Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). (PMID: 20226046) Boesgaard TW … Hansen T (BMC medical genetics 2010) 3 4 72
ExternalLinks
Products for INS Gene
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Sources for INS Gene
- (1) GeneCards
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- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
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- (7) GeneLoc
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