Gene Gene information from NCBI Gene database.
Entrez ID 3481
Gene name Insulin like growth factor 2
Gene symbol IGF2
Synonyms (NCBI Gene)
C11orf43GRDFIGF-IIPP9974SRS3
Chromosome 11
Chromosome location 11p15.5
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
miRNA miRNA information provided by mirtarbase database.
811
miRTarBase ID miRNA Experiments Reference
MIRT004520 hsa-let-7a-5p Luciferase reporter assay 17974952
MIRT005738 hsa-miR-125b-5p Luciferase reporter assayNorthern blotWestern blot 21200031
MIRT005738 hsa-miR-125b-5p Luciferase reporter assayNorthern blotWestern blot 21200031
MIRT005739 hsa-miR-150-5p Luciferase reporter assay 21200031
MIRT005739 hsa-miR-150-5p Luciferase reporter assay 21200031
Transcription factors Transcription factors information provided by TRRUST V2 database.
18
Transcription factor Regulation Reference
ASCL1 Repression 20842449
CEBPA Unknown 7659086
CTCF Unknown 18458536;20966046;21536749;24725430
DDX5 Unknown 20966046
EGR1 Activation 8634146
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
71
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0001503 Process Ossification IEA
GO:0001649 Process Osteoblast differentiation IEA
GO:0001701 Process In utero embryonic development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147470 5466 ENSG00000167244
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01344
Protein name Insulin-like growth factor 2 (Insulin-like growth factor II) (IGF-II) (Somatomedin-A) (T3M-11-derived growth factor) [Cleaved into: Insulin-like growth factor II Ala-25 Del; Preptin]
Protein function The insulin-like growth factors possess growth-promoting activity (By similarity). Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF2 is influenced by placental lactogen. Also involved in tissue
PDB 1IGL , 2L29 , 2V5P , 3E4Z , 3KR3 , 5L3L , 5L3M , 5L3N , 6UM2 , 6VWG , 6VWI , 8U4C , 8U4E , 8VJB , 8VJC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00049 Insulin 30 62 Insulin/IGF/Relaxin family Domain
PF00049 Insulin 54 84 Insulin/IGF/Relaxin family Domain
PF08365 IGF2_C 112 166 Insulin-like growth factor II E-peptide Family
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, placenta, lung, liver, muscle, kidney, tongue, limb, eye and pancreas. {ECO:0000269|PubMed:16531418}.
Sequence
MGIPMGKSMLVLLTFLAFASCCIAAYRPSETLCGGELVDTLQFVCGDRGFYFSRPASRVS
RR
SRGIVEECCFRSCDLALLETYC
ATPAKSERDVSTPPTVLPDNFPRYPVGKFFQYDTWK
QSTQRLRRGLPALLRARRGHVLAKELEAFREAKRHRPLIALPTQDP
AHGGAPPEMASNRK
Sequence length 180
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Ras signaling pathway
Hormone signaling
PI3K-Akt signaling pathway
Pathways in cancer
Proteoglycans in cancer
Hepatocellular carcinoma
  Platelet degranulation
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
IRS-related events triggered by IGF1R
SHC-related events triggered by IGF1R
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
55
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Beckwith-Wiedemann syndrome Likely pathogenic rs1858937359 RCV002491857
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer Pathogenic rs1858717597 RCV001293830
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IGF2-related disorder Pathogenic rs2495589617 RCV003394389
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Silver-Russell syndrome 1 Pathogenic; Likely pathogenic rs1064794050, rs1114167321, rs1858937359 RCV000491853
RCV000490875
RCV002491857
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 15750215
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 12165460
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12804639
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11398994, 11536368, 12412161, 15514114, 1713573, 17399767, 21668571, 22159423, 22392079, 8855837
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 10205209, 1713573
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 21380782
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 11536368, 12584565
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10646861, 10963127, 14996863, 15057734, 15490195, 15585629, 19218281, 20682317, 21062411, 22645077, 22800756, 24194259, 25110432, 28877067, 29682767
View all (2 more)
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 18611974
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 14996863, 22645077
★☆☆☆☆
Found in Text Mining only