AutismKB 2.0

Annotation Detail for IGF2R


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Basic Information Top
Gene Symbol:IGF2R ( CD222,CIMPR,M6P-R,MPR1,MPRI )
Gene Full Name: insulin-like growth factor 2 receptor
Band: 6q25.3
Quick LinksEntrez ID:3482; OMIM: 147280; Uniprot ID:MPRI_HUMAN; ENSEMBL ID: ENSG00000197081; HGNC ID: 5467
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
112N-linked (GlcNAc...).
400N-linked (GlcNAc...) (Potential).
435N-linked (GlcNAc...) (Potential).
543N-linked (GlcNAc...) (Potential).
581N-linked (GlcNAc...).
626N-linked (GlcNAc...).
747N-linked (GlcNAc...).
871N-linked (GlcNAc...) (Potential).
951N-linked (GlcNAc...) (Potential).
957N-linked (GlcNAc...) (Potential).
1164N-linked (GlcNAc...) (Potential).
1246N-linked (GlcNAc...).
1312N-linked (GlcNAc...) (Potential).
1656N-linked (GlcNAc...) (Potential).
1757N-linked (GlcNAc...) (Potential).
1816N-linked (GlcNAc...) (Potential).
2085N-linked (GlcNAc...) (Potential).
2136N-linked (GlcNAc...) (Potential).
2352N6-acetyllysine.
2401Phosphoserine.
2409Phosphoserine.
2479Phosphoserine.
2484Phosphoserine.
Location(AA) Modifications Resource
112N-linked (GlcNAc...).Swiss-Prot 53.0
400N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
435N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
543N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
581N-linked (GlcNAc...).Swiss-Prot 53.0
626N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
747N-linked (GlcNAc...).Swiss-Prot 53.0
871N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
951N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
957N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1164N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1246N-linked (GlcNAc...).Swiss-Prot 53.0
1312N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1656N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1757N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1816N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2085N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2136N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2409Phosphoserine (CK2 alpha)Phospho.ELM 6.0
2409Phosphoserine.Swiss-Prot 53.0
2479Phosphoserine.Swiss-Prot 53.0
2479PhosphoserinePhospho.ELM 6.0
2484Phosphoserine.Swiss-Prot 53.0
2484Phosphoserine (CK2 alpha)Phospho.ELM 6.0
Location(AA) Modification Resource
37O-linkedHMM predict
112N-linkedHMM predict
140PhosphothreonineHMM predict
283O-linkedHMM predict
342Phosphothreonine(MAPK)HMM predict
400N-linkedHMM predict
435N-linkedHMM predict
440N-linkedHMM predict
505Phosphoserine(IKK)HMM predict
505Phosphoserine(ATM)HMM predict
507Phosphothreonine(PKC)HMM predict
554Phosphoserine(CDC2)HMM predict
567Phosphoserine(CK2)HMM predict
567Phosphoserine(ATM)HMM predict
581N-linkedHMM predict
626N-linkedHMM predict
641Phosphoserine(CDK)HMM predict
670Phosphoserine(IKK)HMM predict
701Phosphotyrosine(INSR)HMM predict
742Phosphotyrosine(INSR)HMM predict
747N-linkedHMM predict
751N-linkedHMM predict
840Phosphoserine(IKK)HMM predict
864Phosphoserine(CK1)HMM predict
871N-linkedHMM predict
927O-linkedHMM predict
951N-linkedHMM predict
956Phosphotyrosine(Syk)HMM predict
957N-linkedHMM predict
993Phosphothreonine(CK2)HMM predict
1101Phosphothreonine(PKC)HMM predict
1119Phosphothreonine(PKA)HMM predict
1196Phosphoserine(CDC2)HMM predict
1246N-linkedHMM predict
1276O-linkedHMM predict
1312N-linkedHMM predict
1388Phosphoserine(CK1)HMM predict
1471Phosphothreonine(PKC)HMM predict
1502O-linkedHMM predict
1520N-linkedHMM predict
1600Phosphoserine(CK1)HMM predict
1656N-linkedHMM predict
1679PhosphoserineHMM predict
1684Phosphoserine(CK2)HMM predict
1741Phosphotyrosine(Syk)HMM predict
1741Phosphotyrosine(EGFR)HMM predict
1757N-linkedHMM predict
1816N-linkedHMM predict
1822O-linkedHMM predict
1835Phosphoserine(PKA)HMM predict
2014Phosphoserine(IKK)HMM predict
2080Phosphotyrosine(INSR)HMM predict
2085N-linkedHMM predict
2118Phosphoserine(CAMK2)HMM predict
2136N-linkedHMM predict
2141N-linkedHMM predict
2179Phosphoserine(IKK)HMM predict
2209Phosphothreonine(PKC)HMM predict
2239Phosphoserine(IKK)HMM predict
2274O-linkedHMM predict
2303Phosphoserine(ATM)HMM predict
2320S-palmitoylHMM predict
2334Phosphothreonine(PKA)HMM predict
2334Phosphothreonine(PKC)HMM predict
2342S-palmitoylHMM predict
2343S-palmitoylHMM predict
2347Phosphoserine(PKA)HMM predict
2347Phosphoserine(PKG)HMM predict
2365N-linkedHMM predict
2409Phosphoserine(CK1)HMM predict
2409Phosphoserine(CK2)HMM predict
2471O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000876
  • Location:chr6 160310120-160447570
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 160309426 160310278 852 269
KLF4 hESGSE17917 160309843 160310104 261 147
PHF8 293TGSE20725 160309405 160310466 1061 185
PHF8 Hs68minusFBSGSE20725 160309373 160310325 952 272
TAF k562GSE8489 160309356 160309806 450 540
USF1 HepG2E 160309356 160309887 531 499
USF2 HepG2E 160309356 160309853 497 516
p63 keratinocytesGSE17611 160307281 160308421 1140 2270
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 160449361 160449580 219 1900
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 160367682 160370333 2651 0
CBP T0-glioblastomaGSE21026 160441586 160441834 248 0
CBP T30-glioblastomaGSE21026 160441613 160442027 414 0
CTCF CD4GSE12889 160429559 160429702 143 0
CTCF CD4SISSRdata 160429559 160429702 143 0
CTCF HelaGSE12889 160429509 160429681 172 0
CTCF G2GSE9613 160309700 160310688 988 0
CTCF G2GSE9613 160345265 160345621 356 0
CTCF G2GSE9613 160346239 160347545 1306 0
CTCF G2GSE9613 160377195 160377505 310 0
CTCF G2GSE9613 160382200 160382805 605 0
CTCF G2GSE9613 160410829 160411256 427 0
CTCF G2GSE9613 160411994 160412223 229 0
CTCF G2GSE9613 160412830 160413853 1023 0
CTCF G2GSE9613 160423679 160423895 216 0
CTCF G2GSE9613 160424977 160425153 176 0
CTCF G2GSE9613 160427722 160427984 262 0
CTCF G2GSE9613 160429259 160430017 758 0
CTCF G2GSE9613 160431836 160432429 593 0
CTCF G2GSE9613 160433810 160433952 142 0
CTCF G2GSE9613 160442874 160443119 245 0
CTCF G2GSE9613 160443458 160443813 355 0
CTCF G2GSE9613 160444219 160445016 797 0
Gata1 K562GSE18868 160442211 160443139 928 0
Gata2 K562GSE18868 160442232 160443642 1410 0
H3ac HepG2E 160311136 160311774 638 0
H3ac HepG2E 160312133 160312648 515 0
H3ac HepG2E 160313328 160313890 562 0
H3ac HepG2E 160318456 160320461 2005 0
H3ac HepG2E 160321769 160323913 2144 0
KLF4 hESGSE17917 160310302 160310539 237 0
KLF4 hESGSE17917 160346946 160347530 584 0
NRSF-mono JurkatQuESTdata 160347121 160347571 450 0
NRSF-poly JurkatQuESTdata 160347140 160347677 537 0
Nanog hESGSE18292 160444501 160444645 144 0
P300 T0-glioblastomaGSE21026 160441589 160441834 245 0
P300 T30-glioblastomaGSE21026 160441398 160441886 488 0
PHF8 HeLaGSE20725 160309518 160311132 1614 0
PolII HeLaGSE12783 160309271 160311473 2202 0
Rb shRbQuiescentGSE19898 160443425 160443678 253 0
STAT1 IFNSISSRdata 160319977 160320742 765 0
TAF k562GSE8489 160310909 160311774 865 0
TAF k562GSE8489 160312133 160312648 515 0
TFAP2C MCF7GSE21234 160320235 160320655 420 0
TFAP2C MCF7GSE21234 160395005 160395398 393 0
USF1 HepG2E 160311024 160311774 750 0
USF1 HepG2E 160312133 160312648 515 0
USF1 HepG2E 160313400 160313958 558 0
hScc1 BcellGSE12603 160309627 160310985 1358 0
hScc1 BcellGSE12603 160318318 160319050 732 0
hScc1 BcellGSE12603 160320065 160320574 509 0
hScc1 BcellGSE12603 160346800 160347330 530 0
hScc1 BcellGSE12603 160377371 160377505 134 0
hScc1 BcellGSE12603 160430831 160431010 179 0
hScc1 BcellGSE12603 160432077 160432429 352 0
hScc1 BcellGSE12603 160443576 160443813 237 0
hScc1 CdLSGSE12603 160444248 160444732 484 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-100 hsa-mir-100 11 20206398
hsa-miR-100* hsa-mir-100 11 20206398
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-211 hsa-mir-211 15 21109473
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
hsa-miR-574-3p hsa-mir-574 4 20483645
hsa-miR-615-5p hsa-mir-615 12 20483645
hsa-miR-657 hsa-mir-657 17 18602895
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1059 Unknown pSILAC miR-16 IGF2R down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000197081 n_a n_a n_a "adipocyte, epithelium, lymphoblast, lymphocyte, leukocyte, macrophage, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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