P01344

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	IGF2_HUMAN; P01344;
Entrez ID	3481
GenBank Protein ID	NM_000612.5; NM_001007139.5; NM_001127598.2; NM_001291861.2; NM_001291862.2;
GenBank Nucleotide ID	NP_000603.1; NP_001007140.2; NP_001121070.1; NP_001278790.1; NP_001278791.1;
Protein 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]
Gene Name	IGF2; PP1446
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	The insulin-like growth factors possess growth-promoting activity. Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF-II is influenced by placental lactogen. Also involved in tissue differentiation. Positively regulates myogenic transcription factor MYOD1 function by facilitating the recruitment of transcriptional coactivators, thereby controlling muscle terminal differentiation (By similarity). In adults, involved in glucose metabolism in adipose tissue, skeletal muscle and liver (Probable).;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. Functional Description The insulin-like growth factors possess growth-promoting activity. Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF-II is influenced by placental lactogen. Also involved in tissue differentiation. Positively regulates myogenic transcription factor MYOD1 function by facilitating the recruitment of transcriptional coactivators, thereby controlling muscle terminal differentiation (By similarity). In adults, involved in glucose metabolism in adipose tissue, skeletal muscle and liver (Probable).;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.
Sequence (Fasta)	MGIPMGKSML VLLTFLAFAS CCIAAYRPSE TLCGGELVDT LQFVCGDRGF YFSRPASRVS 60 RRSRGIVEEC CFRSCDLALL ETYCATPAKS ERDVSTPPTV LPDNFPRYPV GKFFQYDTWK 120 QSTQRLRRGL PALLRARRGH VLAKELEAFR EAKRHRPLIA LPTQDPAHGG APPEMASNRK 180 181 Fasta Sequence >P01344\|IGF2; PP1446\|Homo sapiens (Human) MGIPMGKSMLVLLTFLAFASCCIAAYRPSETLCGGELVDTLQFVCGDRGFYFSRPASRVSRRSRGIVEECCFRSCDLALLETYCATPAKSERDVSTPPTVLPDNFPRYPVGKFFQYDTWKQSTQRLRRGLPALLRARRGHVLAKELEAFREAKRHRPLIALPTQDPAHGGAPPEMASNRK

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Methylation	Carcinoma		U		23943562
1	[Reference]: Our results suggested that H19 CBS6 hypermethylation is related to the LOI of IGF2 which usually leads to an overexpression of IGF2, playing important roles in the occurrence, development as well as metastasis of ESCC.

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 30) (view all)	MESH:D000022 ; Abortion, Spontaneous MESH:D018268 ; Adrenocortical Carcinoma MESH:D000544 ; Alzheimer Disease MESH:D000740 ; Anemia MESH:D050197 ; Atherosclerosis MESH:D001321 ; Autistic Disorder MESH:D001506 ; Beckwith-Wiedemann Syndrome MESH:D001848 ; Bone Diseases, Developmental MESH:D006528 ; Carcinoma, Hepatocellular MESH:D003072 ; Cognition Disorders MESH:D003110 ; Colonic Neoplasms MESH:D015179 ; Colorectal Neoplasms MESH:D005317 ; Fetal Growth Retardation MESH:D006130 ; Growth Disorders OMIM:616489 ; GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES MESH:D018197 ; Hepatoblastoma MESH:D006548 ; Hernia, Diaphragmatic MESH:D007003 ; Hypoglycemia MESH:D020961 ; Lewy Body Disease MESH:D008113 ; Liver Neoplasms MESH:D008569 ; Memory Disorders MESH:D009410 ; Nerve Degeneration MESH:D009765 ; Obesity MESH:D010300 ; Parkinson Disease MESH:D010922 ; Placenta Diseases MESH:D006831 ; Polyhydramnios MESH:D011230 ; Precancerous Conditions MESH:D012208 ; Rhabdomyosarcoma MESH:D056730 ; Silver-Russell Syndrome MESH:D009396 ; Wilms Tumor
DisGeNet (Curated) (count: 122) (view all)	C0000786; Spontaneous abortion C0002395; Alzheimer's Disease C0002871; Anemia C0004153; Atherosclerosis C0004352; Autistic Disorder C0004903; Beckwith-Wiedemann Syndrome C0005941; Bone Diseases, Developmental C0007222; Cardiovascular Diseases C0009241; Cognition Disorders C0009375; Colonic Neoplasms C0009404; Colorectal Neoplasms C0010276; Craniopharyngioma C0010417; Cryptorchidism C0015300; Exophthalmos C0015934; Fetal Growth Retardation C0016506; Foot Deformities C0018273; Growth Disorders C0018800; Cardiomegaly C0019209; Hepatomegaly C0019284; Diaphragmatic Hernia C0020224; Polyhydramnios C0020615; Hypoglycemia C0021296; Infant, Small for Gestational Age C0023903; Liver neoplasms C0024032; Low Birth Weights C0024421; Macroglossia C0025261; Memory Disorders C0025990; Micrognathism C0026106; Mild Mental Retardation C0026827; Muscle hypotonia C0027708; Nephroblastoma C0027746; Nerve Degeneration C0027962; Melanocytic nevus C0028754; Obesity C0030567; Parkinson Disease C0032045; Placenta Disorders C0032927; Precancerous Conditions C0035412; Rhabdomyosarcoma C0036341; Schizophrenia C0036631; Seminoma C0037932; Curvature of spine C0039075; Syndactyly C0040427; Tooth Abnormalities C0041667; Underweight C0158986; Neonatal hypoglycemia C0175693; Russell-Silver syndrome C0206624; Hepatoblastoma C0206661; Gonadoblastoma C0206686; Adrenocortical carcinoma C0221263; Cafe-au-Lait Spots C0221354; Frontal bossing C0221766; Diastasis recti C0235991; Small for gestational age (disorder) C0238506; Congenital posterior urethral valves C0239234; Low set ears C0240295; Mandibular hypoplasia C0243050; Cardiovascular Abnormalities C0262444; Dental abnormalities C0265974; Birthmark C0266589; Congenital ear anomaly NOS (disorder) C0271708; Fasting Hypoglycemia C0277828; Late fontanel closure C0332890; Congenital hemihypertrophy C0349588; Short stature C0456132; Large fontanelle C0541764; Delayed bone age C0542514; Blue sclera C0542518; Enlarged kidney C0544886; Somatic mutation C0545053; Advanced bone age C0557874; Global developmental delay C0678807; prenatal alcohol exposure C0700208; Acquired scoliosis C0752347; Lewy Body Disease C0795690; Congenital omphalocele C0878544; Cardiomyopathies C1262477; Weight decreased C1306710; Facial asymmetry C1386048; Intrauterine retardation C1691215; Penile hypospadias C1834060; Short middle phalanx of the 5th finger C1835884; Triangular face C1836674; Short distal phalanx (5th finger) C1837260; Prominent forehead C1837760; Prominent eyes C1840382; Ureteral anomalies C1844806; Weight less than 3rd percentile C1845847; Coarse facial features C1845977; X- linked recessive C1848490; Protruding eyes C1849075; Relative macrocephaly C1849265; Overgrowth C1850049; Bilateral fifth finger clinodactyly C1851720; Adrenocortical cytomegaly C1851722; Overgrowth of external genitalia C1851731; Generalized overgrowth C1851733; Pancreatic hyperplasia C1853237; Isolated cases C1853737; Prominent occiput C1854301; Motor delay C1857130; Hypoplastic mandible condyle C1858033; Asymmetric chest C1862425; Prominent globes C1862761; Increased hepatocellular carcinoma risk C1864897; Cognitive delay C1866195; Downturned corners of mouth C1867114; Craniofacial disproportion C1867446; Bulging forehead C1867955; Increased incidence of hepatocellular carcinoma C2239176; Liver carcinoma C2674608; Feeding difficulties in infancy C3150281; Fetal overgrowth C3714796; Isolated somatotropin deficiency C4020874; No development of motor milestones C4020875; Mental and motor retardation C4072820; Large bregma sutures C4072821; Large, late-closing fontanelle C4072822; Wide bregma sutures C4072825; Thickened facial skin with coarse facial features C4280269; Noncancerous mole C4280538; Curvature of little finger C4280652; Prominent back of the head
HGMD (count: 6)	CP084969; Intrauterine growth retardation and atypical diabetes; Complex rearrangements CG057624; Increased expression; Gross deletions CR973222; Reduced BMI, in adult males, association with; Regulatory CR012233; Reduced BMI, in adult males, association with; Regulatory CR012232; Reduced BMI, in adult males, association with; Regulatory CS012210; Increased BMI in adult males, association with; Splicing
GWASdb (count: 10) (view all)	rs11042753; Height (Pygmy height); Null rs734351; Urinary metabolites; kidney disease rs3213221; Urinary metabolites; kidney disease rs4244808; Coronary heart disease; coronary artery disease rs1003483; Parkinson's disease; Parkinson's disease rs3741208; Type 1 diabetes; type 1 diabetes mellitus rs1004446; Type 1 diabetes; type 1 diabetes mellitus rs1004446; Type 1 diabetes autoantibodies; type 1 diabetes mellitus rs1004446; Multiple sclerosis; multiple sclerosis rs1004446; Fasting blood glucose; type 2 diabetes mellitus

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 2)	116 PVGKFFQYDTWKQST dbPAF 83 DLALLETYCATPAKS dbPAF
Glycation (count: 1)	89 TYCATPAKSERDVST PLMD