IGF2

Gene Information
 
Gene Symbol
IGF2
 
Aliases
C11orf43, GRDF, IGF-II, PP9974
 
Entrez Gene ID
 
Gene Name
Insulin-like growth factor 2 (somatomedin A)
 
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)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0001501 Biological process Skeletal system development TAS 8298652
GO:0006349 Biological process Regulation of gene expression by genetic imprinting TAS 8968759
GO:0006355 Biological process Regulation of transcription, DNA-dependent NAS 12881524
GO:0007275 Biological process Multicellular organismal development TAS 6382022
GO:0008284 Biological process Positive regulation of cell proliferation IC 11500939
Protein Information
 
Protein Name
Somatomedin-A , chromosome 11 open reading frame 43 , OTTHUMP00000011018 , insulin-like growth factor 2 (somatomedin A), OTTHUMP00000011015 , PP9974 , insulin-like growth factor II , somatomedin-A , insulin-like growth factor type 2 , OTTHUMP00000220677 , OTTHUMP00000011013 , FLJ22066 , C11orf43 , FLJ44734 , OTTHUMP00000011158 , OTTHUMP00000011157 , IGF-II , OTTHUMP00000011012
 
Function
The insulin-like growth factors possess growth-promoting activity. In vitro, they are potent mitogens for cultured cells. IGF-II is influenced by placental lactogen and may play a role in fetal development| 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
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00049 Insulin Insulin/IGF/Relaxin family
PF08365 IGF2_C Insulin-like growth factor II E-peptide
 
OMIM
 
Interactions

Associated Diseases

Diseases References
Acromegaly 2086202, 10651750, 9076345, 11678829, 11895459, 10443687, 11318786, 19494714
Adrenal tumor 8370710, 9177379, 10357696, 15241731, 7531713, 18854392
Beckwith-wiedemann syndrome 7943172, 9349812, 8320696, 15314640, 9285792, 10779549, 8513333, 14645199, 1356785, 8968759, 9260520, 10102049, 16049499, 7911125, 12510981, 17325026, 16189167, 9507400, 7621447, 7717451, 7802016, 1284245, 10393948, 10220444, 9584186, 7987305, 19293570, 10197590, 9291469, 8923002, 15234339, 10820361, 9774446, 9722981, 8612230, 7614476, 7981680, 1688177, 19300480, 7947283, 11935324, 8252039, 10857747, 9389646, 8971182, 7943167
Cancer (carcinoma) 11949624, 19199270, 19121847, 8370710, 9536279, 2044780, 12602904, 12956790, 19040529, 2116998, 9142639, 15585629, 16918977, 1651793, 7911125, 10597307, 18980977, 7627387, 9815946, 10944603, 16935391, 19218281, 15490195, 7768644, 2285595, 18854392, 10537355, 9609998, 1377520, 17786320, 7700644, 11200487, 16360395, 1322432
Diabetes mellitus insulin-dependent 8796133, 7523562, 11339926, 9614361, 1989863, 10209561, 2088457, 7536202, 7672495
   
References
 
Primary:

Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity.

San Millan Jose L, Corton Marta, Villuendas Gemma, Sancho Jose, Peral Belen, Escobar-Morreale Hector F
Department of Molecular Genetics, Hospital Ramon y Cajal, 28034 Madrid, Spain.
J Clin Endocrinol Metab. 2004 Jun;89(6):2640-6.
 
Supporting Literature:
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. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26283014
miR-483-5p and miR-486-5p are down-regulated in cumulus cells of metaphase II oocytes from women with polycystic ovary syndrome. 
In vitro 
25902782, PMC4476412
Loss of the insulin receptor in murine megakaryocytes/platelets causes thrombocytosis and alterations in IGF signalling. 
In vitro 
25606370, PMC4205031
No detectable association of IGF2BP2 and SLC30A8 genes with type 2 diabetes in the population of Hyderabad, India. 
Clinical study 

 

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