INSR
insulin receptor, the group of Fibronectin type III domain containing|CD molecules|Receptor tyrosine kinases
Basic information
Region (hg38): 19:7112254-7294414
Links
Phenotypes
GenCC
Source:
- insulin-resistance syndrome type A (Strong), mode of inheritance: AD
- hyperinsulinism due to INSR deficiency (Strong), mode of inheritance: AD
- Donohue syndrome (Strong), mode of inheritance: AR
- insulin-resistance syndrome type A (Strong), mode of inheritance: AR
- Rabson-Mendenhall syndrome (Strong), mode of inheritance: AR
- Donohue syndrome (Supportive), mode of inheritance: AR
- insulin-resistance syndrome type A (Supportive), mode of inheritance: AD
- Rabson-Mendenhall syndrome (Supportive), mode of inheritance: AR
- hyperinsulinism due to INSR deficiency (Supportive), mode of inheritance: AD
- Rabson-Mendenhall syndrome (Strong), mode of inheritance: AR
- hyperinsulinism due to INSR deficiency (Strong), mode of inheritance: AD
- Donohue syndrome (Strong), mode of inheritance: AR
- insulin-resistance syndrome type A (Limited), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Hyperinsulinemic hypoglycemia, familial, 5; Rabson-Mendenhall syndrome; Donohoe syndrome | AD/AR | Allergy/Immunology/Infectious; Cardiovascular; Endocrine; Oncologic; Renal | Several affected individuals with familial hyperinsulinemic hypoglycemia have had severe sequelae, such as hypoglycemia-induced seizures, which could potentially be averted by early recognition and treatment; In Rabson-Mendenhall syndrome, due to the risk of infectious sequelae, early and aggressive treatment of infections can be beneficial; In Rabson-Mendenhall syndrome, effective treatment of insulin resistance can be difficult, but there are reports of the efficacy of leptin treatment; In Donohoe syndrome, medical (eg, diazoxide) and surgical treatments may be beneficial; Recognition may allow prompt treatment of other organ system involvement, such as related to cardiac manifestations (eg, cadiac hypertrophy, as recombinant human insulin-like growth factor-1 hs been reported as beneficial for treatment of hypertrophic cardiomyopathy and renal tubular dysfunction); Individuals with Donohue syndrome or Rabson-Mendenhall syndrome may be at increased risk of malignant processes (eg, breast and thyroid cancer have been described), and awareness may allow prompt detection and early treatment | Allergy/Immunology/Infectious; Cardiovascular; Craniofacial; Dental; Dermatologic; Endocrine; Musculoskeletal; Oncologic; Renal | 13212592; 13302174; 2121734; 2544998; 3020345; 3322162; 3384956; 3415309; 3721065; 7815442; 8105179; 8288049; 8326490; 15070911; 15161766; 15232309; 17201797; 18405695; 18411068; 21869538; 22172957; 22563226; 22768670; 22972224; 23229189; 23347304; 23824322 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (314 variants)
- Leprechaunism syndrome (248 variants)
- Insulin-resistant diabetes mellitus AND acanthosis nigricans (247 variants)
- Rabson-Mendenhall syndrome (242 variants)
- not specified (88 variants)
- Inborn genetic diseases (37 variants)
- Monogenic diabetes (11 variants)
- INSR-related condition (7 variants)
- Hyperinsulinism due to INSR deficiency (7 variants)
- - (7 variants)
- See cases (3 variants)
- Rabson-Mendenhall syndrome;Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Hyperinsulinism due to INSR deficiency (3 variants)
- Type 2 diabetes mellitus (2 variants)
- Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Rabson-Mendenhall syndrome;Hyperinsulinism due to INSR deficiency (2 variants)
- Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Hyperinsulinism due to INSR deficiency;Rabson-Mendenhall syndrome (2 variants)
- Rabson-Mendenhall syndrome;Insulin-resistant diabetes mellitus AND acanthosis nigricans;Hyperinsulinism due to INSR deficiency;Leprechaunism syndrome (2 variants)
- Leprechaunism syndrome;Rabson-Mendenhall syndrome;Hyperinsulinism due to INSR deficiency;Insulin-resistant diabetes mellitus AND acanthosis nigricans (1 variants)
- Rabson-Mendenhall syndrome;Hyperinsulinism due to INSR deficiency;Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome (1 variants)
- Hyperinsulinism due to INSR deficiency;Leprechaunism syndrome;Rabson-Mendenhall syndrome;Insulin-resistant diabetes mellitus AND acanthosis nigricans (1 variants)
- Leprechaunism syndrome;Insulin-resistant diabetes mellitus AND acanthosis nigricans;Hyperinsulinism due to INSR deficiency;Rabson-Mendenhall syndrome (1 variants)
- Hyperinsulinism due to INSR deficiency;Rabson-Mendenhall syndrome;Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome (1 variants)
- Hyperinsulinism due to INSR deficiency;Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Rabson-Mendenhall syndrome (1 variants)
- Bailey-Bloch congenital myopathy (1 variants)
- Rabson-Mendenhall syndrome;Leprechaunism syndrome;Hyperinsulinism due to INSR deficiency;Insulin-resistant diabetes mellitus AND acanthosis nigricans (1 variants)
- Rabson-Mendenhall syndrome;Leprechaunism syndrome;Insulin-resistant diabetes mellitus AND acanthosis nigricans;Hyperinsulinism due to INSR deficiency (1 variants)
- Insulin resistance (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the INSR gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 17 | 53 | 22 | 92 | ||
| missense | 126 | 143 | ||||
| nonsense | 5 | |||||
| start loss | 0 | |||||
| frameshift | 7 | |||||
| inframe indel | 3 | |||||
| splice donor/acceptor (+/-2bp) | 3 | |||||
| splice region ? | 9 | 11 | 7 | 27 | ||
| non coding ? | 90 | 29 | 131 | 250 | ||
| Total | 9 | 14 | 237 | 89 | 154 |
Highest pathogenic variant AF is 0.0000198
Variants in INSR
This is a list of pathogenic ClinVar variants found in the INSR region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 19-7112262-A-G | Insulin-resistant diabetes mellitus AND acanthosis nigricans • Rabson-Mendenhall syndrome • Leprechaunism syndrome | Benign (Jun 14, 2016) | ||
| 19-7112296-C-T | Leprechaunism syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans • Rabson-Mendenhall syndrome | Likely benign (Jan 13, 2018) | ||
| 19-7112320-A-C | Insulin-resistant diabetes mellitus AND acanthosis nigricans • Leprechaunism syndrome • Rabson-Mendenhall syndrome | Uncertain significance (Jan 13, 2018) | ||
| 19-7112336-C-CA | Rabson-Mendenhall syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans • Leprechaunism syndrome | Uncertain significance (Jun 14, 2016) | ||
| 19-7112344-A-G | Leprechaunism syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans • Rabson-Mendenhall syndrome | Uncertain significance (Jan 13, 2018) | ||
| 19-7112360-A-G | Rabson-Mendenhall syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans • Leprechaunism syndrome | Uncertain significance (Jan 13, 2018) | ||
| 19-7112454-G-A | Insulin-resistant diabetes mellitus AND acanthosis nigricans • Leprechaunism syndrome • Rabson-Mendenhall syndrome | Benign (Jan 13, 2018) | ||
| 19-7112582-G-A | Leprechaunism syndrome • Rabson-Mendenhall syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans | Benign (Jan 12, 2018) | ||
| 19-7112634-C-A | Rabson-Mendenhall syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans • Leprechaunism syndrome | Benign (Jan 13, 2018) | ||
| 19-7112676-C-T | Leprechaunism syndrome • Rabson-Mendenhall syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans | Uncertain significance (Jan 12, 2018) | ||
| 19-7112677-G-A | Leprechaunism syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans • Rabson-Mendenhall syndrome | Uncertain significance (Jan 12, 2018) | ||
| 19-7112680-C-G | Leprechaunism syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans • Rabson-Mendenhall syndrome | Uncertain significance (Jan 13, 2018) | ||
| 19-7112682-C-T | Leprechaunism syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans • Rabson-Mendenhall syndrome | Uncertain significance (Jun 14, 2016) | ||
| 19-7112707-G-A | Leprechaunism syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans • Rabson-Mendenhall syndrome | Uncertain significance (Jan 13, 2018) | ||
| 19-7112786-C-T | Leprechaunism syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans • Rabson-Mendenhall syndrome | Benign (Jan 13, 2018) | ||
| 19-7112838-C-G | Leprechaunism syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans • Rabson-Mendenhall syndrome | Benign (Jan 13, 2018) | ||
| 19-7112861-A-G | Insulin-resistant diabetes mellitus AND acanthosis nigricans • Leprechaunism syndrome • Rabson-Mendenhall syndrome | Benign (Jan 13, 2018) | ||
| 19-7112870-A-G | Insulin-resistant diabetes mellitus AND acanthosis nigricans • Rabson-Mendenhall syndrome • Leprechaunism syndrome | Benign (Jan 12, 2018) | ||
| 19-7113162-C-T | Leprechaunism syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans • Rabson-Mendenhall syndrome | Uncertain significance (Jan 12, 2018) | ||
| 19-7113179-A-G | Leprechaunism syndrome • Rabson-Mendenhall syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans | Likely benign (Jan 13, 2018) | ||
| 19-7113198-C-T | Rabson-Mendenhall syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans • Leprechaunism syndrome | Uncertain significance (Jan 13, 2018) | ||
| 19-7113199-G-A | Rabson-Mendenhall syndrome • Leprechaunism syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans | Benign (Jan 12, 2018) | ||
| 19-7113201-G-C | Rabson-Mendenhall syndrome • Insulin-resistant diabetes mellitus AND acanthosis nigricans • Leprechaunism syndrome | Uncertain significance (Jan 13, 2018) | ||
| 19-7113270-C-G | Insulin-resistant diabetes mellitus AND acanthosis nigricans • Leprechaunism syndrome • Rabson-Mendenhall syndrome | Benign (Jan 13, 2018) | ||
| 19-7113363-C-T | Insulin-resistant diabetes mellitus AND acanthosis nigricans • Leprechaunism syndrome • Rabson-Mendenhall syndrome | Uncertain significance (Jan 13, 2018) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| INSR | protein_coding | protein_coding | ENST00000302850 | 22 | 181780 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000361 | 1.00 | 125712 | 0 | 36 | 125748 | 0.000143 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.83 | 510 | 818 | 0.623 | 0.0000559 | 9038 |
| Missense in Polyphen | 158 | 352.43 | 0.44831 | 3847 | ||
| Synonymous | -0.854 | 372 | 352 | 1.06 | 0.0000265 | 2721 |
| Loss of Function | 5.19 | 21 | 66.8 | 0.314 | 0.00000417 | 743 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000177 | 0.000177 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000381 | 0.000381 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.000132 | 0.000132 |
| Middle Eastern | 0.000381 | 0.000381 |
| South Asian | 0.000229 | 0.000229 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor tyrosine kinase which mediates the pleiotropic actions of insulin. Binding of insulin leads to phosphorylation of several intracellular substrates, including, insulin receptor substrates (IRS1, 2, 3, 4), SHC, GAB1, CBL and other signaling intermediates. Each of these phosphorylated proteins serve as docking proteins for other signaling proteins that contain Src- homology-2 domains (SH2 domain) that specifically recognize different phosphotyrosine residues, including the p85 regulatory subunit of PI3K and SHP2. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway, which is responsible for most of the metabolic actions of insulin, and the Ras-MAPK pathway, which regulates expression of some genes and cooperates with the PI3K pathway to control cell growth and differentiation. Binding of the SH2 domains of PI3K to phosphotyrosines on IRS1 leads to the activation of PI3K and the generation of phosphatidylinositol-(3, 4, 5)-triphosphate (PIP3), a lipid second messenger, which activates several PIP3-dependent serine/threonine kinases, such as PDPK1 and subsequently AKT/PKB. The net effect of this pathway is to produce a translocation of the glucose transporter SLC2A4/GLUT4 from cytoplasmic vesicles to the cell membrane to facilitate glucose transport. Moreover, upon insulin stimulation, activated AKT/PKB is responsible for: anti- apoptotic effect of insulin by inducing phosphorylation of BAD; regulates the expression of gluconeogenic and lipogenic enzymes by controlling the activity of the winged helix or forkhead (FOX) class of transcription factors. Another pathway regulated by PI3K- AKT/PKB activation is mTORC1 signaling pathway which regulates cell growth and metabolism and integrates signals from insulin. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 thereby activating mTORC1 pathway. The Ras/RAF/MAP2K/MAPK pathway is mainly involved in mediating cell growth, survival and cellular differentiation of insulin. Phosphorylated IRS1 recruits GRB2/SOS complex, which triggers the activation of the Ras/RAF/MAP2K/MAPK pathway. In addition to binding insulin, the insulin receptor can bind insulin-like growth factors (IGFI and IGFII). Isoform Short has a higher affinity for IGFII binding. When present in a hybrid receptor with IGF1R, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin. {ECO:0000269|PubMed:12138094, ECO:0000269|PubMed:16314505, ECO:0000269|PubMed:16831875, ECO:0000269|PubMed:8257688, ECO:0000269|PubMed:8276809, ECO:0000269|PubMed:8452530, ECO:0000269|PubMed:9428692}.;
- Disease
- DISEASE: Rabson-Mendenhall syndrome (RMS) [MIM:262190]: Severe insulin resistance syndrome characterized by insulin-resistant diabetes mellitus with pineal hyperplasia and somatic abnormalities. Typical features include coarse, senile-appearing facies, dental and skin abnormalities, abdominal distension, and phallic enlargement. Inheritance is autosomal recessive. {ECO:0000269|PubMed:10443650, ECO:0000269|PubMed:12023989, ECO:0000269|PubMed:17201797, ECO:0000269|PubMed:2121734, ECO:0000269|PubMed:2365819, ECO:0000269|PubMed:28765322, ECO:0000269|PubMed:8314008}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Leprechaunism (LEPRCH) [MIM:246200]: Represents the most severe form of insulin resistance syndrome, characterized by intrauterine and postnatal growth retardation and death in early infancy. Inheritance is autosomal recessive. {ECO:0000269|PubMed:12023989, ECO:0000269|PubMed:12538626, ECO:0000269|PubMed:12970295, ECO:0000269|PubMed:1607067, ECO:0000269|PubMed:1730625, ECO:0000269|PubMed:22768670, ECO:0000269|PubMed:2365819, ECO:0000269|PubMed:24498630, ECO:0000269|PubMed:2479553, ECO:0000269|PubMed:2834824, ECO:0000269|PubMed:28765322, ECO:0000269|PubMed:7538143, ECO:0000269|PubMed:7815442, ECO:0000269|PubMed:8188715, ECO:0000269|PubMed:8326490, ECO:0000269|PubMed:8419945, ECO:0000269|PubMed:8636294, ECO:0000269|PubMed:9249867, ECO:0000269|PubMed:9299395, ECO:0000269|PubMed:9703342}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:1470163, ECO:0000269|PubMed:1607076, ECO:0000269|PubMed:7657032}. Note=The gene represented in this entry may be involved in disease pathogenesis.; DISEASE: Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968]: Familial hyperinsulinemic hypoglycemia [MIM:256450], also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. {ECO:0000269|PubMed:15161766}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]: Characterized by the association of severe insulin resistance (manifested by marked hyperinsulinemia and a failure to respond to exogenous insulin) with the skin lesion acanthosis nigricans and ovarian hyperandrogenism in adolescent female subjects. Women frequently present with hirsutism, acne, amenorrhea or oligomenorrhea, and virilization. This syndrome is different from the type B that has been demonstrated to be secondary to the presence of circulating autoantibodies against the insulin receptor. {ECO:0000269|PubMed:10733238, ECO:0000269|PubMed:11260230, ECO:0000269|PubMed:12107746, ECO:0000269|PubMed:12970295, ECO:0000269|PubMed:1563582, ECO:0000269|PubMed:1963473, ECO:0000269|PubMed:2002058, ECO:0000269|PubMed:2168397, ECO:0000269|PubMed:2365819, ECO:0000269|PubMed:2544998, ECO:0000269|PubMed:28765322, ECO:0000269|PubMed:3283938, ECO:0000269|PubMed:8243830, ECO:0000269|PubMed:8288049, ECO:0000269|PubMed:8314008, ECO:0000269|PubMed:8388389, ECO:0000269|PubMed:9175790}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Regulation of lipolysis in adipocytes - Homo sapiens (human);Adherens junction - Homo sapiens (human);Type II diabetes mellitus - Homo sapiens (human);Insulin resistance - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);Longevity regulating pathway - multiple species - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);Aldosterone-regulated sodium reabsorption - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Ovarian steroidogenesis - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics;Leucine Stimulation on Insulin Signaling;Insulin Signalling;IGF-Core;AMP-activated Protein Kinase (AMPK) Signaling;Selenium Micronutrient Network;Vitamin B12 Metabolism;Type II diabetes mellitus;Folate Metabolism;AGE-RAGE pathway;Nanoparticle triggered autophagic cell death;Transcription factor regulation in adipogenesis;Angiopoietin Like Protein 8 Regulatory Pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;Leptin Insulin Overlap;Steatosis AOP;PI3K-Akt Signaling Pathway;Ras Signaling;Insulin Signaling;DNA Damage Response (only ATM dependent);Signal Transduction;insulin signaling pathway;IRS activation;Signal attenuation;Insulin receptor signalling cascade;Insulin receptor recycling;Signaling by Insulin receptor;insulin Mam;IL-7 signaling;EGFR1;growth hormone signaling pathway;Signaling events mediated by TCPTP;PIP3 activates AKT signaling;JAK STAT pathway and regulation;EPO signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;Signaling by Receptor Tyrosine Kinases;VEGF;Intracellular signaling by second messengers;Insulin Pathway;Insulin-mediated glucose transport;Signaling events mediated by PTP1B;insulin
(Consensus)
Recessive Scores
- pRec
- 0.941
Intolerance Scores
- loftool
- 0.0375
- rvis_EVS
- -2.14
- rvis_percentile_EVS
- 1.49
Haploinsufficiency Scores
- pHI
- 1.00
- hipred
- Y
- hipred_score
- 0.744
- ghis
- 0.488
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.975
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Insr
- Phenotype
- endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; liver/biliary system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); renal/urinary system phenotype; immune system phenotype;
Zebrafish Information Network
- Gene name
- insrb
- Affected structure
- mandibular arch skeleton
- Phenotype tag
- abnormal
- Phenotype quality
- malformed
Gene ontology
- Biological process
- activation of MAPK activity;positive regulation of protein phosphorylation;heart morphogenesis;carbohydrate metabolic process;regulation of transcription, DNA-templated;protein phosphorylation;transmembrane receptor protein tyrosine kinase signaling pathway;G protein-coupled receptor signaling pathway;learning;memory;positive regulation of cell population proliferation;insulin receptor signaling pathway;epidermis development;male gonad development;positive regulation of phosphatidylinositol 3-kinase signaling;peptidyl-tyrosine phosphorylation;transformation of host cell by virus;male sex determination;adrenal gland development;positive regulation of cell migration;exocrine pancreas development;activation of protein kinase activity;activation of protein kinase B activity;cellular response to insulin stimulus;peptidyl-tyrosine autophosphorylation;glucose homeostasis;positive regulation of protein complex disassembly;positive regulation of MAPK cascade;positive regulation of nitric oxide biosynthetic process;positive regulation of glycogen biosynthetic process;positive regulation of glycolytic process;positive regulation of mitotic nuclear division;positive regulation of transcription, DNA-templated;regulation of embryonic development;positive regulation of glucose import;protein autophosphorylation;positive regulation of developmental growth;anatomical structure development;protein heterotetramerization;positive regulation of meiotic cell cycle;positive regulation of protein kinase B signaling;positive regulation of respiratory burst;cellular response to growth factor stimulus;dendritic spine maintenance;amyloid-beta clearance;neuron projection maintenance;regulation of female gonad development
- Cellular component
- nuclear envelope;plasma membrane;integral component of plasma membrane;insulin receptor complex;caveola;external side of plasma membrane;endosome membrane;membrane;axon;nuclear lumen;dendrite membrane;neuronal cell body membrane;receptor complex;extracellular exosome
- Molecular function
- amyloid-beta binding;protein tyrosine kinase activity;transmembrane receptor protein tyrosine kinase activity;insulin-activated receptor activity;insulin-like growth factor receptor binding;protein binding;ATP binding;GTP binding;protein domain specific binding;insulin-like growth factor I binding;insulin-like growth factor II binding;phosphatidylinositol 3-kinase binding;insulin binding;insulin receptor substrate binding;protein-containing complex binding;PTB domain binding