Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3481
Gene name Gene Name - the full gene name approved by the HGNC.
Insulin like growth factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IGF2
Synonyms (NCBI Gene) Gene synonyms aliases
C11orf43, GRDF, IGF-II, PP9974, SRS3
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.5
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT004520 hsa-let-7a-5p Luciferase reporter assay 17974952
MIRT005738 hsa-miR-125b-5p Luciferase reporter assay, Northern blot, Western blot 21200031
MIRT005738 hsa-miR-125b-5p Luciferase reporter assay, Northern blot, Western blot 21200031
MIRT005739 hsa-miR-150-5p Luciferase reporter assay 21200031
MIRT005739 hsa-miR-150-5p Luciferase reporter assay 21200031
Transcription factors
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
147470 5466 ENSG00000167244
Protein
UniProt ID 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)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Silver-Russell Syndrome Silver-Russell syndrome 3, Silver-Russell syndrome 1 rs869320620, rs1064794050, rs1114167321 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Celiac disease Celiac disease N/A N/A GWAS
Cervical Cancer Cervical cancer N/A N/A GWAS
Diabetes Type 1 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 23583422, 37699152
Abortion Spontaneous Associate 20484977
Adenocarcinoma Associate 22159423
Adenocarcinoma of Lung Associate 33228740, 35974000, 8276819
Adenoma Associate 20682317, 25110432, 30578081
Adenoma Islet Cell Associate 18552458, 26666605, 36742395, 7685912
Adenoma Islet Cell Stimulate 30520387
Adenomyosis Associate 17296180
Adrenal Cortex Neoplasms Associate 23028800, 31378849, 33650791
Adrenal Gland Neoplasms Associate 26400872