|
|
Gene Symbol |
IGF2 |
|
Aliases |
C11orf43, GRDF, IGF-II, PP9974 |
|
Entrez Gene ID |
|
|
Gene Name |
Insulin like growth factor 2 |
|
Chromosomal Location |
11p15.5 |
|
HGNC ID |
|
|
Summary |
This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
|
|
RefSeq DNA |
|
|
RefSeq mRNA |
|
|
e!Ensembl
|
Protein Information |
|
Protein Name |
Insulin-like growth factor II, T3M-11-derived growth factor, insulin-like growth factor 2 (somatomedin A), insulin-like growth factor type 2, preptin |
|
Function |
The insulin-like growth factors possess growth-promoting activity. Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF-II is influenced by placental lactogen. Also involved in tissue differentiation. Positively regulates myogenic transcription factor MYOD1 function by facilitating the recruitment of transcriptional coactivators, thereby controlling muscle terminal differentiation (By similarity). In adults, involved in glucose metabolism in adipose tissue, skeletal muscle and liver (Probable). Acts as a ligand for integrin which is required for IGF2 signaling (PubMed:28873464). .; Preptin undergoes glucose-mediated co-secretion with insulin, and acts as physiological amplifier of glucose-mediated insulin secretion. Exhibits osteogenic properties by increasing osteoblast mitogenic activity through phosphoactivation of MAPK1 and MAPK3. |
|
|
|
|
|
UniProt |
|
|
PDB |
|
|
|
|
Interactions |
| |
STRING |
MINT |
IntAct |
ENSP00000275525 |
|
P08833 |
|
| |
View interactions
|
|
| |
Associated Diseases
Disease group | Disease Name | References |
Blood Disorders |
Anemia |
|
Cardiovascular Diseases |
Atherosclerosis |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Beckwith-Wiedemann Syndrome |
|
Russell-Silver syndrome |
|
Digestive System Diseases |
Colitis |
|
Crohn Disease |
|
Endocrine System Diseases |
Diabetes Mellitus |
|
Dwarfism |
|
PCOS |
|
Immune System Diseases |
Autoimmune Diseases |
|
Still Disease |
|
Juvenile arthritis |
|
Common Variable Immunodeficiency |
|
Lupus Erythematosus |
|
Musculoskeletal Diseases |
Bone Diseases |
|
Spondylitis |
|
Neoplasms |
Nephroblastoma |
|
Liver Cancer |
|
Colorectal Cancer |
|
Colonic Neoplasms |
|
Rhabdomyoma |
|
Hepatoblastoma |
|
Multiple Sclerosis |
|
Adrenal Cancer |
|
Bilateral Wilms Tumor |
|
Nervous System Diseases |
Parkinson Disease |
|
Nutritional and Metabolic Diseases |
Hypoglycemia |
|
Obesity |
|
Celiac Disease |
|
Psychiatric/Brain disorders |
Autistic Disorder |
|
Memory Disorders |
|
Alzheimer Disease |
|
Lewy Body Disease |
|
Senile Dementia |
|
Schizophrenia |
|
Cognition Disorders |
|
Skin and Connective Tissue Diseases |
Psoriasis |
|
|
References |
|
|
|
PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
|
IGF-I and IL-6 |
Infertility |
|
|
Direct
|
60 women who attended an infertility clinic |
IGF-II levels, which appeared to be negatively correlated with elevated E2, statistically decreased in PCO patients |
|
IGF-I and LH |
|
|
|
Direct
|
29 normally ovulating women and 19 patients with PCOS |
Both IGF-II and IGF-I were reduced in PCOS, confirming a possible role of an IGF imbalance in the development of this disease. |
|
|
|