Endometriosis Knowledgebase

Search Result

Gene id

3481

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

IGF2 Gene UCSC Ensembl

Aliases

C11orf43, GRDF, IGF-II, PP9974

Gene name

insulin like growth factor 2

Alternate names

insulin-like growth factor II, T3M-11-derived growth factor, insulin-like growth factor 2 (somatomedin A), insulin-like growth factor type 2, preptin,

Gene location

11p15.5 (2149602: 2129111) Exons: 9 NC_000011.10

Gene summary(Entrez)

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]

OMIM

147470

SNPs

rs680

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000673.2   g.2132404T>C
NC_000011.10   g.2132404T>C
NC_000011.9   g.2153634T>C
NC_000011.9   g.2153634T>G
NG_008849.1   g.22200A>C
NG_008849.1   g.22200A>G
NG_050578.1   g.33806A>C
NG_050578.1   g.33806A>G
NM_000612.5   c.*583A>C
NM_000612.5   c.*583A>G
NM_001007139.5   c.*583A>C
NM_001007139.5   c.*583A>G
NM_001127598.2   c.*583A>C
NM_001127598.2   c.*583A>G
NM_001291861.2   c.*583A>C
NM_001291861.2   c.*583A>G
NM_001291862.2   c.*583A>C
NM_001291862.2   c.*583A>G
NR_003512.3   n.1840A>C
NR_003512.3   n.1840A>G

Protein Summary

Protein general information

P01344

Name: Insulin like growth factor II (IGF II) (Somatomedin A) (T3M 11 derived growth factor) [Cleaved into: Insulin like growth factor II; Insulin like growth factor II Ala 25 Del; Preptin]

Length: 180 Mass: 20,140

Sequence

MGIPMGKSMLVLLTFLAFASCCIAAYRPSETLCGGELVDTLQFVCGDRGFYFSRPASRVSRRSRGIVEECCFRSC
DLALLETYCATPAKSERDVSTPPTVLPDNFPRYPVGKFFQYDTWKQSTQRLRRGLPALLRARRGHVLAKELEAFR
EAKRHRPLIALPTQDPAHGGAPPEMASNRK

Structural information

Interpro:	IPR022334 IPR013576 IPR016179 IPR022350 IPR022353 IPR022352
Prosite:	PS00262
Pfam:	PF08365 PF00049
PDB:	1GF2 1IGL 2L29 2V5P 3E4Z 3KR3 5L3L 5L3M 5L3N
PDBsum:	1GF2 1IGL 2L29 2V5P 3E4Z 3KR3 5L3L 5L3M 5L3N
DIP:	29508
MINT:	6380943
STRING:	ENSP00000391826;

Other Databases

GeneCards: IGF2; Malacards: IGF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0001503	ossification	IEA	biological_process
GO:0001934	positive regulation of pr otein phosphorylation	ISS	biological_process
GO:0002576	platelet degranulation	TAS	biological_process
GO:0005158	insulin receptor binding	IPI	molecular_function
GO:0005159	insulin-like growth facto r receptor binding	IMP	molecular_function
GO:0005179	hormone activity	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006006	glucose metabolic process	IEA	biological_process
GO:0006349	regulation of gene expres sion by genetic imprintin g	TAS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0007565	female pregnancy	IEA	biological_process
GO:0007613	memory	IEA	biological_process
GO:0008083	growth factor activity	IDA	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IC	biological_process
GO:0008286	insulin receptor signalin g pathway	TAS	biological_process
GO:0009314	response to radiation	IEA	biological_process
GO:0030546	receptor activator activi ty	ISS	molecular_function
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0031667	response to nutrient leve ls	IEA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0035094	response to nicotine	IEA	biological_process
GO:0038028	insulin receptor signalin g pathway via phosphatidy linositol 3-kinase	ISS	biological_process
GO:0042060	wound healing	IEA	biological_process
GO:0042104	positive regulation of ac tivated T cell proliferat ion	IDA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0043085	positive regulation of ca talytic activity	ISS	biological_process
GO:0043410	positive regulation of MA PK cascade	IDA	biological_process
GO:0043539	protein serine/threonine kinase activator activity	ISS	molecular_function
GO:0044267	cellular protein metaboli c process	TAS	biological_process
GO:0045471	response to ethanol	IEA	biological_process
GO:0045725	positive regulation of gl ycogen biosynthetic proce ss	ISS	biological_process
GO:0045840	positive regulation of mi totic nuclear division	IDA	biological_process
GO:0045953	negative regulation of na tural killer cell mediate d cytotoxicity	IEA	biological_process
GO:0046628	positive regulation of in sulin receptor signaling pathway	IDA	biological_process
GO:0050731	positive regulation of pe ptidyl-tyrosine phosphory lation	ISS	biological_process
GO:0051897	positive regulation of pr otein kinase B signaling	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071260	cellular response to mech anical stimulus	IEA	biological_process
GO:0071902	positive regulation of pr otein serine/threonine ki nase activity	IEA	biological_process
GO:2000273	positive regulation of re ceptor activity	IEA	biological_process
GO:2000467	positive regulation of gl ycogen (starch) synthase activity	ISS	biological_process
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0001503	ossification	IEA	biological_process
GO:0001934	positive regulation of pr otein phosphorylation	ISS	biological_process
GO:0002576	platelet degranulation	TAS	biological_process
GO:0005158	insulin receptor binding	IPI	molecular_function
GO:0005159	insulin-like growth facto r receptor binding	TAS	molecular_function
GO:0005159	insulin-like growth facto r receptor binding	IMP	molecular_function
GO:0005179	hormone activity	IEA	molecular_function
GO:0005179	hormone activity	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005975	carbohydrate metabolic pr ocess	IEA	biological_process
GO:0006006	glucose metabolic process	IEA	biological_process
GO:0006349	regulation of gene expres sion by genetic imprintin g	TAS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0007565	female pregnancy	IEA	biological_process
GO:0007613	memory	IEA	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008083	growth factor activity	IDA	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IC	biological_process
GO:0008286	insulin receptor signalin g pathway	TAS	biological_process
GO:0009314	response to radiation	IEA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0030546	receptor activator activi ty	ISS	molecular_function
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0031667	response to nutrient leve ls	IEA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0035094	response to nicotine	IEA	biological_process
GO:0038028	insulin receptor signalin g pathway via phosphatidy linositol 3-kinase	ISS	biological_process
GO:0042060	wound healing	IEA	biological_process
GO:0042104	positive regulation of ac tivated T cell proliferat ion	IDA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0043085	positive regulation of ca talytic activity	ISS	biological_process
GO:0043410	positive regulation of MA PK cascade	IDA	biological_process
GO:0043539	protein serine/threonine kinase activator activity	ISS	molecular_function
GO:0044267	cellular protein metaboli c process	TAS	biological_process
GO:0045471	response to ethanol	IEA	biological_process
GO:0045725	positive regulation of gl ycogen biosynthetic proce ss	ISS	biological_process
GO:0045840	positive regulation of mi totic nuclear division	IDA	biological_process
GO:0045953	negative regulation of na tural killer cell mediate d cytotoxicity	IEA	biological_process
GO:0046628	positive regulation of in sulin receptor signaling pathway	IDA	biological_process
GO:0050731	positive regulation of pe ptidyl-tyrosine phosphory lation	ISS	biological_process
GO:0051781	positive regulation of ce ll division	IEA	biological_process
GO:0051897	positive regulation of pr otein kinase B signaling	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071260	cellular response to mech anical stimulus	IEA	biological_process
GO:0071902	positive regulation of pr otein serine/threonine ki nase activity	IEA	biological_process
GO:2000273	positive regulation of re ceptor activity	IEA	biological_process
GO:2000467	positive regulation of gl ycogen (starch) synthase activity	ISS	biological_process
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0001934	positive regulation of pr otein phosphorylation	ISS	biological_process
GO:0002576	platelet degranulation	TAS	biological_process
GO:0005158	insulin receptor binding	IPI	molecular_function
GO:0005159	insulin-like growth facto r receptor binding	TAS	molecular_function
GO:0005159	insulin-like growth facto r receptor binding	IMP	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006349	regulation of gene expres sion by genetic imprintin g	TAS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0008083	growth factor activity	IDA	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IC	biological_process
GO:0008286	insulin receptor signalin g pathway	TAS	biological_process
GO:0030546	receptor activator activi ty	ISS	molecular_function
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0038028	insulin receptor signalin g pathway via phosphatidy linositol 3-kinase	ISS	biological_process
GO:0042104	positive regulation of ac tivated T cell proliferat ion	IDA	biological_process
GO:0043085	positive regulation of ca talytic activity	ISS	biological_process
GO:0043410	positive regulation of MA PK cascade	IDA	biological_process
GO:0043539	protein serine/threonine kinase activator activity	ISS	molecular_function
GO:0044267	cellular protein metaboli c process	TAS	biological_process
GO:0045725	positive regulation of gl ycogen biosynthetic proce ss	ISS	biological_process
GO:0045840	positive regulation of mi totic nuclear division	IDA	biological_process
GO:0046628	positive regulation of in sulin receptor signaling pathway	IDA	biological_process
GO:0050731	positive regulation of pe ptidyl-tyrosine phosphory lation	ISS	biological_process
GO:0051897	positive regulation of pr otein kinase B signaling	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:2000467	positive regulation of gl ycogen (starch) synthase activity	ISS	biological_process

KEGG pathways

hsa05205 Proteoglycans in cancer

Diseases

Associated diseases	References
Adrenal carcinoma	KEGG: H00033
Adrenal hyperplasia	PMID: 19039234
Alzheimer's disease	PMID: 12111440
Anorexia nervosa	PMID: 17440932
Autism	PMID: 19598235
Beckwith-wiedemann syndrome	KEGG: H00713
Cancer	PMID: 19692168
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Diabetes	PMID: 21829393
Embryo implantation	PMID: 12596304
Endometriosis	PMID: 19055724
Glaucoma	PMID: 14614750
Hyperandrogenism	PMID: 15181035
Hypertension	PMID: 20057340
Idiopathic male infertility	PMID: 19878521
Male infertility	PMID: 23539881
Obesity	PMID: 12075589
Oligoasthenoteratozoospermia	PMID: 19584898
Oligozoospermia	PMID: 19880108
Polycystic ovary syndrome (PCOS)	PMID: 21824047
Pregnancy loss	PMID: 18573128
Endometriosis	INFBASE19055724
Russell-Silver syndrome	KEGG: H00711
Unexplained infertility	PMID: 20042264

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19055724	Endometrio sis			4 (3 endometrio tic tissues, 1 normal endometr ium sample )		MMP1 MMP2 MMP3 MMP10 MMP11 MMP14 AXL SHC1 ACTN4 PI3KCA p-AKT p-mTOR and p-ERK	Show abstract
21251749	Endometrio sis	IGF-I (-969(CA) block, -603A>T, and -553T>C), IGF-II (c.517C>T, c.540G>T and 820G>A), IGF-IR (c.3129G>A)		236 (128 women with endometrio sis, 108 contro l women)		IGF-I IGF-II IGF-IR	Show abstract