IGF2 Chromosome 11
Insulin like growth factor 2
Upload your DNA to see your personal genotypes for variants in IGF2.
What This Gene Does
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]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Neuropeptides|Insulin family"
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000167244
Associated Conditions (8)
Inborn genetic diseases
Silver-Russell syndrome 3
Silver-Russell syndrome 1
Beckwith-Wiedemann syndrome
Wilms tumor 1
Colorectal cancer
IGF2-related disorder
See cases
Key Variants
RS146334276
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150866176
Conflicting classifications of pathogenicity
Inborn genetic diseases, Silver-Russell syndrome 3, Silver-Russell syndrome 1
Health Risk
RS200441006
Conflicting classifications of pathogenicity
Inborn genetic diseases, Beckwith-Wiedemann syndrome, Wilms tumor 1
Health Risk
RS554804044
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS764865819
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS868067982
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057518115
Likely pathogenic
Health Risk
RS142012621
Likely pathogenic
Inborn genetic diseases, Silver-Russell syndrome 3, Inborn genetic diseases
Health Risk
RS1858779370
Likely pathogenic
Silver-Russell syndrome 3, Silver-Russell syndrome 3
Health Risk
RS2133582387
Likely pathogenic
Health Risk
RS2495572126
Likely pathogenic
Silver-Russell syndrome 3, Silver-Russell syndrome 3
Health Risk
RS2495576425
Likely pathogenic
Silver-Russell syndrome 3, Silver-Russell syndrome 3
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146334276 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150866176 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Silver-Russell syndrome 3, Silver-Russell syndrome 1 |
| RS200441006 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Beckwith-Wiedemann syndrome, Wilms tumor 1 |
| RS554804044 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764865819 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS868067982 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057518115 | Health Risk | Likely pathogenic | — |
| RS142012621 | Health Risk | Likely pathogenic | Inborn genetic diseases, Silver-Russell syndrome 3, Inborn genetic diseases |
| RS1858779370 | Health Risk | Likely pathogenic | Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS2133582387 | Health Risk | Likely pathogenic | — |
| RS2495572126 | Health Risk | Likely pathogenic | Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS2495576425 | Health Risk | Likely pathogenic | Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS2495590067 | Health Risk | Likely pathogenic | Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS1064794050 | Health Risk | Pathogenic | Silver-Russell syndrome 1, Silver-Russell syndrome 1 |
| RS1114167321 | Health Risk | Pathogenic | Silver-Russell syndrome 1, Silver-Russell syndrome 1 |
| RS1858717597 | Health Risk | Pathogenic | Colorectal cancer, Colorectal cancer |
| RS1858932834 | Health Risk | Pathogenic | Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS1858936079 | Health Risk | Pathogenic | Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS1858937182 | Health Risk | Pathogenic | Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS1858937359 | Health Risk | Pathogenic | Silver-Russell syndrome 3, Wilms tumor 1, Beckwith-Wiedemann syndrome |
| RS2495576486 | Health Risk | Pathogenic | Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS2495589617 | Health Risk | Pathogenic | IGF2-related disorder, IGF2-related disorder |
| RS2495590166 | Health Risk | Pathogenic | — |
| RS2495591068 | Health Risk | Pathogenic | Silver-Russell syndrome 3, Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS553443857 | Health Risk | Pathogenic | — |
| RS869320620 | Health Risk | Pathogenic | Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS2495590055 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |