IGF2R (insulin like growth factor 2 receptor) - Rat Genome Database

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Gene: IGF2R (insulin like growth factor 2 receptor) Homo sapiens
Analyze
Symbol: IGF2R
Name: insulin like growth factor 2 receptor
RGD ID: 732660
HGNC Page HGNC
Description: Enables identical protein binding activity; phosphoprotein binding activity; and retromer complex binding activity. Involved in positive regulation by host of viral process. Located in cell surface; cytoplasmic vesicle; and trans-Golgi network. Implicated in diabetes mellitus (multiple); hepatocellular carcinoma; in situ carcinoma (multiple); and nephroblastoma. Biomarker of breast carcinoma; colon carcinoma; hepatocellular carcinoma; multiple myeloma; and non-Hodgkin lymphoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 300 kDa mannose 6-phosphate receptor; cation-independent mannose-6 phosphate receptor; cation-independent mannose-6-phosphate receptor; CD222; CI Man-6-P receptor; CI-M6PR; CI-MPR; CIMPR; IGF-II receptor; insulin-like growth factor 2 receptor; insulin-like growth factor II receptor; M6P-R; M6P/IGF2 receptor; M6P/IGF2R; M6PR; mannose 6-phosphate/insulin-like growth factor-II receptor; MPR 300; MPR1; MPR300; MPRI
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6159,969,082 - 160,113,507 (+)EnsemblGRCh38hg38GRCh38
GRCh386159,969,082 - 160,111,504 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376160,390,114 - 160,532,536 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366160,310,121 - 160,447,573 (+)NCBINCBI36hg18NCBI36
Build 346160,360,541 - 160,497,992NCBI
Celera6161,035,974 - 161,173,355 (+)NCBI
Cytogenetic Map6q25.3NCBI
HuRef6157,860,740 - 157,998,270 (+)NCBIHuRef
CHM1_16160,652,348 - 160,789,828 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Butylparaben  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carboplatin  (ISO)
chloroacetaldehyde  (EXP)
chlorpyrifos  (ISO)
cidofovir anhydrous  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
cyclosporin A  (EXP)
DDE  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
enzacamene  (ISO)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
erythromycin estolate  (ISO)
ethanol  (ISO)
fenofibrate  (ISO)
finasteride  (ISO)
fipronil  (ISO)
folic acid  (EXP,ISO)
fulvestrant  (ISO)
genistein  (EXP)
ifosfamide  (EXP)
ivermectin  (EXP)
kojic acid  (ISO)
linuron  (ISO)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
menadione  (EXP)
metformin  (EXP,ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
nitrofen  (ISO)
p-menthan-3-ol  (EXP)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
resveratrol  (EXP)
rotenone  (EXP)
Salinomycin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dodecyl sulfate  (EXP)
sulforaphane  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone enanthate  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
tungsten  (ISO)
tunicamycin  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. Dagvajantsan B, etal., Tohoku J Exp Med. 2008 Apr;214(4):303-10.
2. De Souza AT, etal., Nat Genet. 1995 Dec;11(4):447-9.
3. GOA_HUMAN data from the GO Consortium
4. Hankins GR, etal., Oncogene. 1996 May 2;12(9):2003-9.
5. Jang HS, etal., World J Gastroenterol. 2008 Mar 7;14(9):1394-8. doi: 10.3748/wjg.14.1394.
6. Lau MM, etal., Genes Dev 1994 Dec 15;8(24):2953-63.
7. Lautem A, etal., Oncol Rep. 2019 Apr;41(4):2299-2310. doi: 10.3892/or.2019.6995. Epub 2019 Feb 1.
8. McCann JA, etal., J Clin Endocrinol Metab. 2004 Nov;89(11):5700-6.
9. Mills JJ, etal., Oncogene. 1998 May 28;16(21):2797-802.
10. Nguyen G, Kidney Int. 2006 May;69(9):1503-6.
11. Oka Y, etal., Hepatology. 2002 May;35(5):1153-63. doi: 10.1053/jhep.2002.32669.
12. OMIM Disease Annotation Pipeline
13. Price WA, etal., Pediatr Res. 1992 Sep;32(3):291-5. doi: 10.1203/00006450-199209000-00009.
14. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. RGD automated import pipeline for gene-chemical interactions
16. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Sheng J, etal., BMC Cell Biol. 2004 Aug 27;5:32.
18. Tsujiuchi T, etal., Mol Carcinog 2003 Jan;36(1):32-7.
19. Tsujiuchi T, etal., Mol Carcinog. 2004 Apr;39(4):199-205.
20. Vicikova K, etal., Neoplasma. 2018 Sep 19;65(5):762-768. doi: 10.4149/neo_2018_171203N792. Epub 2018 Jun 18.
21. Villuendas G, etal., Eur J Endocrinol. 2006 Aug;155(2):331-6.
22. Wada I, etal., Hepatology. 1999 Jun;29(6):1718-21. doi: 10.1002/hep.510290635.
23. Xu YQ, etal., Oncogene. 1997 Mar 6;14(9):1041-6.
24. Yang EB, etal., Int J Mol Med. 2003 Jun;11(6):773-8.
25. Zakaria R, etal., Acta Histochem. 2009;111(1):52-60. Epub 2008 Aug 3.
Additional References at PubMed
PMID:1370435   PMID:1380437   PMID:1848481   PMID:2454100   PMID:2852162   PMID:2957598   PMID:2963003   PMID:2963812   PMID:2967821   PMID:7511544   PMID:7753549   PMID:7797478  
PMID:8001987   PMID:8111387   PMID:8162705   PMID:8220428   PMID:8267611   PMID:8595419   PMID:8824797   PMID:8896552   PMID:9361090   PMID:9362483   PMID:9566979   PMID:9590177  
PMID:9695949   PMID:9722981   PMID:9892739   PMID:10358067   PMID:10799489   PMID:10829017   PMID:10900005   PMID:10908666   PMID:11081635   PMID:11331585   PMID:11359012   PMID:11387475  
PMID:11387476   PMID:11390366   PMID:11438990   PMID:11811790   PMID:11859375   PMID:11859376   PMID:11867533   PMID:11913773   PMID:12005306   PMID:12021353   PMID:12032303   PMID:12032548  
PMID:12060753   PMID:12127559   PMID:12149131   PMID:12165733   PMID:12223346   PMID:12399424   PMID:12477932   PMID:12543777   PMID:12586773   PMID:12603530   PMID:12665524   PMID:12754519  
PMID:12812984   PMID:12857727   PMID:12934103   PMID:12959977   PMID:14567678   PMID:14574404   PMID:14710346   PMID:15003389   PMID:15078902   PMID:15117318   PMID:15156403   PMID:15167696  
PMID:15181035   PMID:15258139   PMID:15294879   PMID:15506681   PMID:15782153   PMID:16135791   PMID:16172012   PMID:16179614   PMID:16304558   PMID:16977309   PMID:17069798   PMID:17081983  
PMID:17101778   PMID:17149973   PMID:17407457   PMID:17475626   PMID:17507477   PMID:17620336   PMID:17676485   PMID:17684144   PMID:17850746   PMID:17927214   PMID:17959629   PMID:18029348  
PMID:18037232   PMID:18046459   PMID:18174267   PMID:18434368   PMID:18562769   PMID:18596235   PMID:18602895   PMID:18604514   PMID:18611974   PMID:18616667   PMID:18636124   PMID:18676680  
PMID:18789384   PMID:18817523   PMID:18832656   PMID:19010793   PMID:19037107   PMID:19056867   PMID:19064572   PMID:19074885   PMID:19170196   PMID:19195023   PMID:19208780   PMID:19236480  
PMID:19240061   PMID:19322201   PMID:19400954   PMID:19414391   PMID:19435860   PMID:19453261   PMID:19487139   PMID:19578796   PMID:19615732   PMID:19625176   PMID:19626700   PMID:19692168  
PMID:19738201   PMID:19789190   PMID:19946888   PMID:20104244   PMID:20110184   PMID:20119675   PMID:20302654   PMID:20347606   PMID:20416304   PMID:20452482   PMID:20453000   PMID:20634197  
PMID:20639793   PMID:20644561   PMID:20673868   PMID:20734064   PMID:20889566   PMID:20980691   PMID:21195083   PMID:21423176   PMID:21627551   PMID:21761181   PMID:21852217   PMID:21873635  
PMID:21895964   PMID:22082268   PMID:22268729   PMID:22336232   PMID:22377707   PMID:22456507   PMID:22486879   PMID:22521359   PMID:22586326   PMID:22613725   PMID:22623531   PMID:22681933  
PMID:22810586   PMID:22907655   PMID:22939629   PMID:23071652   PMID:23197533   PMID:23227253   PMID:23275563   PMID:23347038   PMID:23376485   PMID:23533145   PMID:23539881   PMID:23686499  
PMID:23984879   PMID:24014609   PMID:24024966   PMID:24067654   PMID:24275455   PMID:24637679   PMID:24656929   PMID:24711643   PMID:24956249   PMID:24999758   PMID:25127865   PMID:25278553  
PMID:25402559   PMID:25468996   PMID:25659154   PMID:25890304   PMID:25922844   PMID:25939386   PMID:26496610   PMID:26610485   PMID:26638075   PMID:26683100   PMID:26861122   PMID:26972000  
PMID:27105913   PMID:27326759   PMID:27375898   PMID:27880917   PMID:28319085   PMID:28380382   PMID:28389567   PMID:28561026   PMID:28692057   PMID:28716948   PMID:28718761   PMID:28767196  
PMID:28935632   PMID:28935633   PMID:28978467   PMID:29054976   PMID:29117863   PMID:29156099   PMID:29180619   PMID:29358589   PMID:29395067   PMID:29507755   PMID:29509190   PMID:29511337  
PMID:29554514   PMID:29568061   PMID:29845934   PMID:29961565   PMID:30021884   PMID:30022168   PMID:30097533   PMID:30194290   PMID:30392876   PMID:30442766   PMID:30541844   PMID:30639242  
PMID:30657605   PMID:30942445   PMID:30948266   PMID:31056421   PMID:31073040   PMID:31076515   PMID:31091453   PMID:31177093   PMID:31418778   PMID:31732153   PMID:31748500   PMID:31847523  
PMID:32027983   PMID:32129710   PMID:32234475   PMID:32409323   PMID:32513696   PMID:32645488   PMID:32788342   PMID:32908216   PMID:32913203   PMID:33008707   PMID:33060197   PMID:33143702  
PMID:33144569   PMID:33845483   PMID:33957083   PMID:34079125   PMID:34233296  


Genomics

Candidate Gene Status
IGF2R is a candidate Gene for QTL BW415_H
IGF2R is a candidate Gene for QTL BW515_H
IGF2R is a candidate Gene for QTL SLIPL24_H
IGF2R is a candidate Gene for QTL SLEP23_H
IGF2R is a candidate Gene for QTL INSUL38_H
IGF2R is a candidate Gene for QTL INSUL40_H
IGF2R is a candidate Gene for QTL GLUCO127_H
IGF2R is a candidate Gene for QTL INSUL31_H
Comparative Map Data
IGF2R
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6159,969,082 - 160,113,507 (+)EnsemblGRCh38hg38GRCh38
GRCh386159,969,082 - 160,111,504 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376160,390,114 - 160,532,536 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366160,310,121 - 160,447,573 (+)NCBINCBI36hg18NCBI36
Build 346160,360,541 - 160,497,992NCBI
Celera6161,035,974 - 161,173,355 (+)NCBI
Cytogenetic Map6q25.3NCBI
HuRef6157,860,740 - 157,998,270 (+)NCBIHuRef
CHM1_16160,652,348 - 160,789,828 (+)NCBICHM1_1
Igf2r
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391712,901,293 - 12,988,593 (-)NCBIGRCm39mm39
GRCm39 Ensembl1712,901,293 - 12,988,551 (-)Ensembl
GRCm381712,682,406 - 12,769,706 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1712,682,406 - 12,769,664 (-)EnsemblGRCm38mm10GRCm38
MGSCv371712,875,272 - 12,962,572 (-)NCBIGRCm37mm9NCBIm37
MGSCv361712,525,771 - 12,613,022 (-)NCBImm8
Celera1712,714,412 - 12,801,753 (-)NCBICelera
Cytogenetic Map17A1NCBI
cM Map178.64NCBI
Igf2r
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2147,979,109 - 48,067,501 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl147,979,109 - 48,067,501 (+)Ensembl
Rnor_6.0148,176,095 - 48,264,482 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl148,176,106 - 48,264,477 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0151,488,767 - 51,577,141 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4142,253,273 - 42,341,646 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1142,256,217 - 42,344,589 (+)NCBI
Celera143,778,518 - 43,867,238 (+)NCBICelera
Cytogenetic Map1q11NCBI
Igf2r
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543920,752,855 - 20,851,281 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543920,754,915 - 20,874,759 (-)NCBIChiLan1.0ChiLan1.0
IGF2R
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16162,884,786 - 162,983,968 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6162,878,661 - 162,997,762 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06157,852,565 - 157,990,049 (+)NCBIMhudiblu_PPA_v0panPan3
IGF2R
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1149,161,551 - 49,262,260 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl149,161,444 - 49,262,277 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha150,002,759 - 50,102,366 (+)NCBI
ROS_Cfam_1.0149,345,406 - 49,445,163 (+)NCBI
UMICH_Zoey_3.1149,227,935 - 49,327,529 (+)NCBI
UNSW_CanFamBas_1.0149,099,537 - 49,199,165 (+)NCBI
UU_Cfam_GSD_1.0149,714,384 - 49,814,084 (+)NCBI
Igf2r
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946144,195,094 - 144,271,698 (+)NCBI
SpeTri2.0NW_00493648911,447,043 - 11,523,695 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IGF2R
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl17,368,103 - 7,472,548 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.117,369,485 - 7,472,480 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.219,168,321 - 9,271,328 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IGF2R
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11387,587,717 - 87,723,795 (+)NCBI
ChlSab1.1 Ensembl1387,587,907 - 87,724,116 (+)Ensembl
Vero_WHO_p1.0NW_02366604059,978,473 - 60,111,795 (+)NCBI
Igf2r
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248552,752,676 - 2,887,327 (-)NCBI

Position Markers
SHGC-77905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,507,330 - 160,507,664UniSTSGRCh37
Build 366160,427,320 - 160,427,654RGDNCBI36
Celera6161,153,157 - 161,153,491RGD
Cytogenetic Map6q26UniSTS
HuRef6157,978,052 - 157,978,386UniSTS
TNG Radiation Hybrid Map679887.0UniSTS
SHGC-81303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,510,090 - 160,510,429UniSTSGRCh37
Build 366160,430,080 - 160,430,419RGDNCBI36
Celera6161,155,917 - 161,156,256RGD
Cytogenetic Map6q26UniSTS
HuRef6157,980,812 - 157,981,151UniSTS
TNG Radiation Hybrid Map679887.0UniSTS
GDB:186982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,526,890 - 160,527,051UniSTSGRCh37
Build 366160,446,880 - 160,447,041RGDNCBI36
Celera6161,172,662 - 161,172,823RGD
Cytogenetic Map6q26UniSTS
HuRef6157,997,575 - 157,997,738UniSTS
GDB:196396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,526,888 - 160,527,051UniSTSGRCh37
Build 366160,446,878 - 160,447,041RGDNCBI36
Celera6161,172,660 - 161,172,823RGD
Cytogenetic Map6q26UniSTS
HuRef6157,997,573 - 157,997,738UniSTS
RH35870  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,526,258 - 160,526,448UniSTSGRCh37
Build 366160,446,248 - 160,446,438RGDNCBI36
Celera6161,172,030 - 161,172,220RGD
Cytogenetic Map6q26UniSTS
HuRef6157,996,943 - 157,997,133UniSTS
GeneMap99-GB4 RH Map6624.28UniSTS
NCBI RH Map61631.6UniSTS
PMC23366P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,484,389 - 160,484,763UniSTSGRCh37
Build 366160,404,379 - 160,404,753RGDNCBI36
Celera6161,130,222 - 161,130,596RGD
Cytogenetic Map6q26UniSTS
HuRef6157,955,187 - 157,955,561UniSTS
PMC23366P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,484,401 - 160,484,763UniSTSGRCh37
Build 366160,404,391 - 160,404,753RGDNCBI36
Celera6161,130,234 - 161,130,596RGD
Cytogenetic Map6q26UniSTS
HuRef6157,955,199 - 157,955,561UniSTS
PMC23366P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,484,401 - 160,484,698UniSTSGRCh37
Build 366160,404,391 - 160,404,688RGDNCBI36
Celera6161,130,234 - 161,130,531RGD
Cytogenetic Map6q26UniSTS
HuRef6157,955,199 - 157,955,496UniSTS
PMC23366P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,485,376 - 160,485,621UniSTSGRCh37
Build 366160,405,366 - 160,405,611RGDNCBI36
Celera6161,131,209 - 161,131,454RGD
Cytogenetic Map6q26UniSTS
HuRef6157,956,174 - 157,956,419UniSTS
PMC23366P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,485,376 - 160,485,596UniSTSGRCh37
Build 366160,405,366 - 160,405,586RGDNCBI36
Celera6161,131,209 - 161,131,429RGD
Cytogenetic Map6q26UniSTS
HuRef6157,956,174 - 157,956,394UniSTS
PMC23366P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,490,901 - 160,491,090UniSTSGRCh37
Build 366160,410,891 - 160,411,080RGDNCBI36
Celera6161,136,728 - 161,136,917RGD
Cytogenetic Map6q26UniSTS
HuRef6157,961,679 - 157,961,868UniSTS
PMC23366P8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,490,922 - 160,491,090UniSTSGRCh37
Build 366160,410,912 - 160,411,080RGDNCBI36
Celera6161,136,749 - 161,136,917RGD
Cytogenetic Map6q26UniSTS
HuRef6157,961,700 - 157,961,868UniSTS
PMC23366P9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,490,922 - 160,491,064UniSTSGRCh37
Build 366160,410,912 - 160,411,054RGDNCBI36
Celera6161,136,749 - 161,136,891RGD
Cytogenetic Map6q26UniSTS
HuRef6157,961,700 - 157,961,842UniSTS
IGF2R_744  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,525,706 - 160,526,533UniSTSGRCh37
Build 366160,445,696 - 160,446,523RGDNCBI36
Celera6161,171,478 - 161,172,305RGD
HuRef6157,996,391 - 157,997,218UniSTS
D6S2075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,526,168 - 160,526,292UniSTSGRCh37
Build 366160,446,158 - 160,446,282RGDNCBI36
Celera6161,171,940 - 161,172,064RGD
Cytogenetic Map6q26UniSTS
HuRef6157,996,853 - 157,996,977UniSTS
RH1530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,526,249 - 160,526,362UniSTSGRCh37
Build 366160,446,239 - 160,446,352RGDNCBI36
Celera6161,172,021 - 161,172,134RGD
Cytogenetic Map6q26UniSTS
HuRef6157,996,934 - 157,997,047UniSTS
GeneMap99-GB4 RH Map6624.28UniSTS
NCBI RH Map61631.6UniSTS
G10508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,526,897 - 160,527,146UniSTSGRCh37
Build 366160,446,887 - 160,447,136RGDNCBI36
Celera6161,172,669 - 161,172,918RGD
Cytogenetic Map6q26UniSTS
HuRef6157,997,582 - 157,997,833UniSTS
WI-9022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376160,526,601 - 160,526,701UniSTSGRCh37
Build 366160,446,591 - 160,446,691RGDNCBI36
Celera6161,172,373 - 161,172,473RGD
Cytogenetic Map6q26UniSTS
HuRef6157,997,286 - 157,997,386UniSTS
GeneMap99-GB4 RH Map6624.28UniSTS
GeneMap99-GB4 RH Map6622.06UniSTS
Whitehead-RH Map6831.9UniSTS
NCBI RH Map61631.6UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR657hsa-miR-657Mirtarbaseexternal_infoReporter assayFunctional MTI18602895
MIR657hsa-miR-657Tarbaseexternal_infoReporter GenePOSITIVE
MIR657hsa-miR-657Mirecordsexternal_info{unchanged}NA18602895
MIR1271hsa-miR-1271-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:1006
Count of miRNA genes:709
Interacting mature miRNAs:800
Transcripts:ENST00000356956, ENST00000464636, ENST00000475584, ENST00000475834, ENST00000487607
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2288 2494 1524 503 1867 348 4346 1934 1084 355 1365 1608 170 1 1203 2782 5 2
Low 151 497 202 121 81 117 11 263 2648 64 95 5 5 1 6 1
Below cutoff 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF069333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF348209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY293855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X83699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X83700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X83701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X83702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000356956   ⟹   ENSP00000349437
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6159,969,082 - 160,111,504 (+)Ensembl
RefSeq Acc Id: ENST00000475584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6160,096,447 - 160,113,507 (+)Ensembl
RefSeq Acc Id: ENST00000475834   ⟹   ENSP00000473880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6160,085,061 - 160,090,344 (+)Ensembl
RefSeq Acc Id: ENST00000487607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6160,073,416 - 160,074,057 (+)Ensembl
RefSeq Acc Id: ENST00000569097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6160,093,082 - 160,106,515 (+)Ensembl
RefSeq Acc Id: ENST00000649737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6160,032,432 - 160,036,725 (+)Ensembl
RefSeq Acc Id: ENST00000650503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6160,061,631 - 160,106,507 (+)Ensembl
RefSeq Acc Id: ENST00000676781   ⟹   ENSP00000504419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6159,969,082 - 160,111,504 (+)Ensembl
RefSeq Acc Id: ENST00000677628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6160,087,921 - 160,106,515 (+)Ensembl
RefSeq Acc Id: ENST00000677704   ⟹   ENSP00000503314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6159,969,082 - 160,111,504 (+)Ensembl
RefSeq Acc Id: ENST00000678224   ⟹   ENSP00000504616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6160,100,380 - 160,111,479 (+)Ensembl
RefSeq Acc Id: NM_000876   ⟹   NP_000867
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,969,082 - 160,111,504 (+)NCBI
GRCh376160,390,131 - 160,527,583 (+)ENTREZGENE
Build 366160,310,121 - 160,447,573 (+)NCBI Archive
HuRef6157,860,740 - 157,998,270 (+)ENTREZGENE
CHM1_16160,652,348 - 160,794,781 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000867   ⟸   NM_000876
- Peptide Label: precursor
- Sequence:
RefSeq Acc Id: ENSP00000349437   ⟸   ENST00000356956
RefSeq Acc Id: ENSP00000473880   ⟸   ENST00000475834
RefSeq Acc Id: ENSP00000504419   ⟸   ENST00000676781
RefSeq Acc Id: ENSP00000503314   ⟸   ENST00000677704
RefSeq Acc Id: ENSP00000504616   ⟸   ENST00000678224
Protein Domains
Fibronectin type-II

Promoters
RGD ID:7209603
Promoter ID:EPDNEW_H10546
Type:initiation region
Name:IGF2R_1
Description:insulin like growth factor 2 receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,969,085 - 159,969,145EPDNEW
RGD ID:6804371
Promoter ID:HG_KWN:55664
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000407414,   NM_000876
Position:
Human AssemblyChrPosition (strand)Source
Build 366160,309,801 - 160,310,512 (+)MPROMDB
RGD ID:6804367
Promoter ID:HG_KWN:55667
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000042934
Position:
Human AssemblyChrPosition (strand)Source
Build 366160,413,511 - 160,414,412 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000876.3(IGF2R):c.4346G>T (p.Gly1449Val) single nucleotide variant Hepatocellular carcinoma [RCV000015918] Chr6:160069961 [GRCh38]
Chr6:160490993 [GRCh37]
Chr6:6q25.3
pathogenic|other
NM_000876.3(IGF2R):c.4391G>A (p.Gly1464Glu) single nucleotide variant Hepatocellular carcinoma [RCV000015919] Chr6:160070006 [GRCh38]
Chr6:160491038 [GRCh37]
Chr6:6q25.3
pathogenic|other
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 copy number loss See cases [RCV000052211] Chr6:159825913..170612001 [GRCh38]
Chr6:160246945..170921089 [GRCh37]
Chr6:160166935..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
NM_000876.3(IGF2R):c.3670+2T>C single nucleotide variant Malignant tumor of prostate [RCV000149008] Chr6:160062621 [GRCh38]
Chr6:160483653 [GRCh37]
Chr6:6q25.3
uncertain significance
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1 copy number loss See cases [RCV000137831] Chr6:155378049..163133499 [GRCh38]
Chr6:155699183..163554531 [GRCh37]
Chr6:155740875..163474521 [NCBI36]
Chr6:6q25.3-26
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1 copy number loss See cases [RCV000139636] Chr6:159915390..170714507 [GRCh38]
Chr6:160336422..171023595 [GRCh37]
Chr6:160256412..170865520 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27
pathogenic
NM_000876.3(IGF2R):c.6657C>T (p.Asp2219=) single nucleotide variant not provided [RCV000954928]|not specified [RCV000203195] Chr6:160096440 [GRCh38]
Chr6:160517472 [GRCh37]
Chr6:6q25.3
benign
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27
pathogenic
GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3 copy number gain See cases [RCV000143618] Chr6:158585724..160899783 [GRCh38]
Chr6:159006756..161320815 [GRCh37]
Chr6:158926744..161240805 [NCBI36]
Chr6:6q25.3-26
uncertain significance
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27
pathogenic
NM_000876.4(IGF2R):c.52_58del (p.Arg18fs) microsatellite Hepatocellular carcinoma [RCV001170050] Chr6:159969290..159969296 [GRCh38]
Chr6:160390322..160390328 [GRCh37]
Chr6:6q25.3
likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 copy number gain not provided [RCV000682734] Chr6:159844762..170919482 [GRCh37]
Chr6:6q25.3-27
pathogenic
GRCh37/hg19 6q25.3-26(chr6:160524800-161855470)x3 copy number gain not provided [RCV000682735] Chr6:160524800..161855470 [GRCh37]
Chr6:6q25.3-26
uncertain significance
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3 copy number gain not provided [RCV000746132] Chr6:159155998..171054786 [GRCh37]
Chr6:6q25.3-27
pathogenic
NM_000876.3(IGF2R):c.4449C>T (p.Ser1483=) single nucleotide variant not provided [RCV000967032] Chr6:160071915 [GRCh38]
Chr6:160492947 [GRCh37]
Chr6:6q25.3
benign
NM_000876.3(IGF2R):c.3804C>T (p.Asp1268=) single nucleotide variant not provided [RCV000901609] Chr6:160063548 [GRCh38]
Chr6:160484580 [GRCh37]
Chr6:6q25.3
benign
NM_000876.3(IGF2R):c.5465C>T (p.Thr1822Met) single nucleotide variant not provided [RCV000883821] Chr6:160078349 [GRCh38]
Chr6:160499381 [GRCh37]
Chr6:6q25.3
benign
NM_000876.3(IGF2R):c.4239G>A (p.Pro1413=) single nucleotide variant not provided [RCV000965741] Chr6:160068372 [GRCh38]
Chr6:160489404 [GRCh37]
Chr6:6q25.3
benign
NM_000876.3(IGF2R):c.6456T>C (p.Asp2152=) single nucleotide variant not provided [RCV000902865] Chr6:160089242 [GRCh38]
Chr6:160510274 [GRCh37]
Chr6:6q25.3
benign
NM_000876.3(IGF2R):c.745C>T (p.Arg249Trp) single nucleotide variant not provided [RCV000882727] Chr6:160027283 [GRCh38]
Chr6:160448315 [GRCh37]
Chr6:6q25.3
benign
NM_000876.3(IGF2R):c.5495G>A (p.Arg1832His) single nucleotide variant not provided [RCV000880409] Chr6:160079596 [GRCh38]
Chr6:160500628 [GRCh37]
Chr6:6q25.3
benign
NM_000876.3(IGF2R):c.2481A>G (p.Ala827=) single nucleotide variant not provided [RCV000967031] Chr6:160048510 [GRCh38]
Chr6:160469542 [GRCh37]
Chr6:6q25.3
benign
NM_000876.3(IGF2R):c.4004G>A (p.Arg1335His) single nucleotide variant not provided [RCV000879739] Chr6:160064518 [GRCh38]
Chr6:160485550 [GRCh37]
Chr6:6q25.3
benign
NM_000876.3(IGF2R):c.861T>A (p.Val287=) single nucleotide variant not provided [RCV000943137] Chr6:160029634 [GRCh38]
Chr6:160450666 [GRCh37]
Chr6:6q25.3
likely benign
NM_000876.3(IGF2R):c.694A>G (p.Thr232Ala) single nucleotide variant not provided [RCV000971757] Chr6:160027232 [GRCh38]
Chr6:160448264 [GRCh37]
Chr6:6q25.3
benign
GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3 copy number gain not provided [RCV000848057] Chr6:157262571..160992289 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_000876.3(IGF2R):c.2345+8A>G single nucleotide variant not provided [RCV000953969] Chr6:160047915 [GRCh38]
Chr6:160468947 [GRCh37]
Chr6:6q25.3
benign
NM_000876.3(IGF2R):c.5701G>A (p.Val1901Ile) single nucleotide variant not provided [RCV000973093] Chr6:160080143 [GRCh38]
Chr6:160501175 [GRCh37]
Chr6:6q25.3
benign
NM_000876.3(IGF2R):c.5255C>T (p.Ala1752Val) single nucleotide variant not provided [RCV000894359] Chr6:160075935 [GRCh38]
Chr6:160496967 [GRCh37]
Chr6:6q25.3
benign
NM_000876.3(IGF2R):c.2449C>G (p.Leu817Val) single nucleotide variant not provided [RCV000951269] Chr6:160048478 [GRCh38]
Chr6:160469510 [GRCh37]
Chr6:6q25.3
benign
NM_000876.3(IGF2R):c.3320C>T (p.Thr1107Met) single nucleotide variant not provided [RCV000956438] Chr6:160061560 [GRCh38]
Chr6:160482592 [GRCh37]
Chr6:6q25.3
benign
NM_000876.3(IGF2R):c.6762C>T (p.Asp2254=) single nucleotide variant not provided [RCV000890408] Chr6:160096545 [GRCh38]
Chr6:160517577 [GRCh37]
Chr6:6q25.3
likely benign
NM_000876.3(IGF2R):c.6387T>C (p.Pro2129=) single nucleotide variant not provided [RCV000891264] Chr6:160089173 [GRCh38]
Chr6:160510205 [GRCh37]
Chr6:6q25.3
benign
GRCh37/hg19 6q25.3(chr6:159998877-160413982)x3 copy number gain not provided [RCV001258756] Chr6:159998877..160413982 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_000876.3(IGF2R):c.3654C>T (p.Pro1218=) single nucleotide variant not provided [RCV001257165] Chr6:160062603 [GRCh38]
Chr6:160483635 [GRCh37]
Chr6:6q25.3
likely benign
NM_000876.4(IGF2R):c.451C>T (p.His151Tyr) single nucleotide variant Premature ovarian failure [RCV001270203] Chr6:160010723 [GRCh38]
Chr6:160431755 [GRCh37]
Chr6:6q25.3
likely pathogenic
NM_000876.4(IGF2R):c.3753C>T (p.Ser1251=) single nucleotide variant not provided [RCV001357305] Chr6:160063497 [GRCh38]
Chr6:160484529 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_000876.4(IGF2R):c.50G>C (p.Arg17Pro) single nucleotide variant Hepatocellular carcinoma [RCV001527392] Chr6:159969296 [GRCh38]
Chr6:160390328 [GRCh37]
Chr6:6q25.3
uncertain significance
NM_000876.4(IGF2R):c.5691C>T (p.Thr1897=) single nucleotide variant Hepatocellular carcinoma [RCV001527393] Chr6:160080133 [GRCh38]
Chr6:160501165 [GRCh37]
Chr6:6q25.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5467 AgrOrtholog
COSMIC IGF2R COSMIC
Ensembl Genes ENSG00000197081 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000349437 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000473880 UniProtKB/TrEMBL
  ENSP00000503314 UniProtKB/TrEMBL
  ENSP00000504419 UniProtKB/TrEMBL
  ENSP00000504616 UniProtKB/TrEMBL
Ensembl Transcript ENST00000356956 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000475834 UniProtKB/TrEMBL
  ENST00000676781 UniProtKB/TrEMBL
  ENST00000677704 UniProtKB/TrEMBL
  ENST00000678224 UniProtKB/TrEMBL
Gene3D-CATH 2.10.10.10 UniProtKB/Swiss-Prot
  2.70.130.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000197081 GTEx
HGNC ID HGNC:5467 ENTREZGENE
Human Proteome Map IGF2R Human Proteome Map
InterPro CIMR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN_type2_dom UniProtKB/Swiss-Prot
  FN_type2_sf UniProtKB/Swiss-Prot
  Kringle-like UniProtKB/Swiss-Prot
  Man6P_isomerase_rcpt-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3482 UniProtKB/Swiss-Prot
NCBI Gene 3482 ENTREZGENE
OMIM 114550 OMIM
  147280 OMIM
Pfam CIMR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn2 UniProtKB/Swiss-Prot
PharmGKB PA29701 PharmGKB
PROSITE FN2_1 UniProtKB/Swiss-Prot
  FN2_2 UniProtKB/Swiss-Prot
  MRH UniProtKB/Swiss-Prot
SMART FN2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57440 UniProtKB/Swiss-Prot
UniProt A0A7I2V381_HUMAN UniProtKB/TrEMBL
  A0A7I2V657_HUMAN UniProtKB/TrEMBL
  A0A7I2YQS7_HUMAN UniProtKB/TrEMBL
  A0N9R6_HUMAN UniProtKB/TrEMBL
  A0N9R7_HUMAN UniProtKB/TrEMBL
  A0N9R9_HUMAN UniProtKB/TrEMBL
  MPRI_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q13660_HUMAN UniProtKB/TrEMBL
  Q13661_HUMAN UniProtKB/TrEMBL
  S4R328_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q7Z7G9 UniProtKB/Swiss-Prot
  Q96PT5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 IGF2R  insulin like growth factor 2 receptor    insulin-like growth factor 2 receptor  Symbol and/or name change 5135510 APPROVED