Gene Gene information from NCBI Gene database.
Entrez ID 3482
Gene name Insulin like growth factor 2 receptor
Gene symbol IGF2R
Synonyms (NCBI Gene)
CD222CI-M6PRCIMPRM6P-RM6P/IGF2RMPR 300MPR1MPR300MPRI
Chromosome 6
Chromosome location 6q25.3
Summary This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs121434587 G>T Pathogenic Missense variant, coding sequence variant
rs121434588 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
402
miRTarBase ID miRNA Experiments Reference
MIRT001451 hsa-miR-16-5p pSILAC 18668040
MIRT016136 hsa-miR-657 Reporter assay 18602895
MIRT020747 hsa-miR-155-5p Proteomics 18668040
MIRT021356 hsa-miR-9-5p Microarray 17612493
MIRT029460 hsa-miR-26b-5p Microarray 19088304
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
USF2 Activation 12857727
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
63
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001889 Process Liver development IEA
GO:0001965 Function G-protein alpha-subunit binding IEA
GO:0001972 Function Retinoic acid binding IEA
GO:0005010 Function Insulin-like growth factor receptor activity TAS 10799489
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147280 5467 ENSG00000197081
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11717
Protein name Cation-independent mannose-6-phosphate receptor (CI Man-6-P receptor) (CI-MPR) (M6PR) (300 kDa mannose 6-phosphate receptor) (MPR 300) (Insulin-like growth factor 2 receptor) (Insulin-like growth factor II receptor) (IGF-II receptor) (M6P/IGF2 receptor) (
Protein function Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes (PubMed:18817523, PubMed:2963003). Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate re
PDB 1E6F , 1GP0 , 1GP3 , 1GQB , 1JPL , 1JWG , 1LF8 , 2CNJ , 2L29 , 2L2A , 2M68 , 2M6T , 2V5N , 2V5O , 2V5P , 5IEI , 6N5X , 6N5Y , 6P8I , 6V02 , 6Z30 , 6Z31 , 6Z32 , 8AFZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00878 CIMR 123 270 Cation-independent mannose-6-phosphate receptor repeat Family
PF00878 CIMR 277 421 Cation-independent mannose-6-phosphate receptor repeat Family
PF00878 CIMR 423 573 Cation-independent mannose-6-phosphate receptor repeat Family
PF00878 CIMR 575 716 Cation-independent mannose-6-phosphate receptor repeat Family
PF00878 CIMR 720 876 Cation-independent mannose-6-phosphate receptor repeat Family
PF00878 CIMR 882 1026 Cation-independent mannose-6-phosphate receptor repeat Family
PF00878 CIMR 1031 1178 Cation-independent mannose-6-phosphate receptor repeat Family
PF00878 CIMR 1179 1320 Cation-independent mannose-6-phosphate receptor repeat Family
PF00878 CIMR 1322 1462 Cation-independent mannose-6-phosphate receptor repeat Family
PF00878 CIMR 1465 1599 Cation-independent mannose-6-phosphate receptor repeat Family
PF00878 CIMR 1603 1750 Cation-independent mannose-6-phosphate receptor repeat Family
PF00878 CIMR 1755 1894 Cation-independent mannose-6-phosphate receptor repeat Family
PF00040 fn2 1903 1942 Fibronectin type II domain Domain
PF00878 CIMR 1946 2083 Cation-independent mannose-6-phosphate receptor repeat Family
PF00878 CIMR 2085 2233 Cation-independent mannose-6-phosphate receptor repeat Family
PF00878 CIMR 2237 2290 Cation-independent mannose-6-phosphate receptor repeat Family
Sequence
MGAAAGRSPHLGPAPARRPQRSLLLLQLLLLVAAPGSTQAQAAPFPELCSYTWEAVDTKN
NVLYKINICGSVDIVQCGPSSAVCMHDLKTRTYHSVGDSVLRSATRSLLEFNTTVSCDQQ
GTNHRVQSSIAFLCGKTLGTPEFVTATECVHYFEWRTTAACKKDIFKANKEVPCYVFDEE
LRKHDLNPLIKLSGAYLVDDSDPDTSLFINVCRDIDTLRDPGSQLRACPPGTAACLVRGH
QAFDVGQPRDGLKLVRKDRLVLSYVREEAG
KLDFCDGHSPAVTITFVCPSERREGTIPKL
TAKSNCRYEIEWITEYACHRDYLESKTCSLSGEQQDVSIDLTPLAQSGGSSYISDGKEYL
FYLNVCGETEIQFCNKKQAAVCQVKKSDTSQVKAAGRYHNQTLRYSDGDLTLIYFGGDEC
S
SGFQRMSVINFECNKTAGNDGKGTPVFTGEVDCTYFFTWDTEYACVKEKEDLLCGATDG
KKRYDLSALVRHAEPEQNWEAVDGSQTETEKKHFFINICHRVLQEGKARGCPEDAAVCAV
DKNGSKNLGKFISSPMKEKGNIQLSYSDGDDCG
HGKKIKTNITLVCKPGDLESAPVLRTS
GEGGCFYEFEWHTAAACVLSKTEGENCTVFDSQAGFSFDLSPLTKKNGAYKVETKKYDFY
INVCGPVSVSPCQPDSGACQVAKSDEKTWNLGLSNAKLSYYDGMIQLNYRGGTPYN
NERH
TPRATLITFLCDRDAGVGFPEYQEEDNSTYNFRWYTSYACPEEPLECVVTDPSTLEQYDL
SSLAKSEGGLGGNWYAMDNSGEHVTWRKYYINVCRPLNPVPGCNRYASACQMKYEKDQGS
FTEVVSISNLGMAKTGPVVEDSGSLLLEYVNGSACT
TSDGRQTTYTTRIHLVCSRGRLNS
HPIFSLNWECVVSFLWNTEAACPIQTTTDTDQACSIRDPNSGFVFNLNPLNSSQGYNVSG
IGKIFMFNVCGTMPVCGTILGKPASGCEAETQTEELKNWKPARPVGIEKSLQLSTEGFIT
LTYKGP
LSAKGTADAFIVRFVCNDDVYSGPLKFLHQDIDSGQGIRNTYFEFETALACVPS
PVDCQVTDLAGNEYDLTGLSTVRKPWTAVDTSVDGRKRTFYLSVCNPLPYIPGCQGSAVG
SCLVSEGNSWNLGVVQMSPQAAANGSLSIMYVNGDKCG
NQRFSTRITFECAQISGSPAFQ
LQDGCEYVFIWRTVEACPVVRVEGDNCEVKDPRHGNLYDLKPLGLNDTIVSAGEYTYYFR
VCGKLSSDVCPTSDKSKVVSSCQEKREPQGFHKVAGLLTQKLTYENGLLKMNFTGGDTCH

KVYQRSTAIFFYCDRGTQRPVFLKETSDCSYLFEWRTQYACPPFDLTECSFKDGAGNSFD
LSSLSRYSDNWEAITGTGDPEHYLINVCKSLAPQAGTEPCPPEAAACLLGGSKPVNLGRV
RDGPQWRDGIIVLKYVDGDLCP
DGIRKKSTTIRFTCSESQVNSRPMFISAVEDCEYTFAW
PTATACPMKSNEHDDCQVTNPSTGHLFDLSSLSGRAGFTAAYSEKGLVYMSICGENENCP
PGVGACFGQTRISVGKANKRLRYVDQVLQLVYKDGSPCP
SKSGLSYKSVISFVCRPEARP
TNRPMLISLDKQTCTLFFSWHTPLACEQATECSVRNGSSIVDLSPLIHRTGGYEAYDESE
DDASDTNPDFYINICQPLNPMHGVPCPAGAAVCKVPIDGPPIDIGRVAGPPILNPIANEI
YLNFESSTPC
LADKHFNYTSLIAFHCKRGVSMGTPKLLRTSECDFVFEWETPVVCPDEVR
MDGCTLTDEQLLYSFNLSSLSTSTFKVTRDSRTYSVGVCTFAVGPEQGGCKDGGVCLLSG
TKGASFGRLQSMKLDYRHQDEAVVLSYVNGDRCP
PETDDGVPCVFPFIFNGKSYEECIIE
SRAKLWCSTTADYDRDHEWGFC
RHSNSYRTSSIIFKCDEDEDIGRPQVFSEVRGCDVTFE
WKTKVVCPPKKLECKFVQKHKTYDLRLLSSLTGSWSLVHNGVSYYINLCQKIYKGPLGCS
ERASICRRTTTGDVQVLGLVHTQKLGVIGDKVVVTYSKGYPCG
GNKTASSVIELTCTKTV
GRPAFKRFDIDSCTYYFSWDSRAACAVKPQEVQMVNGTITNPINGKSFSLGDIYFKLFRA
SGDMRTNGDNYLYEIQLSSITSSRNPACSGANICQVKPNDQHFSRKVGTSDKTKYYLQDG
DLDVVFASSSKCG
KDKTKSVSSTIFFHCDPLVEDGIPEFSHETADCQYLFSWYTSAVCPL
GVGFDSENPG
DDGQMHKGLSERSQAVGAVLSLLLVALTCCLLALLLYKKERRETVISKLT
TCCRRSSNVSYKYSKVNKEEETDENETEWLMEEIQLPPPRQGKEGQENGHITTKSVKALS
SLHGDDQDSEDEVLTIPEVKVHSGRGAGAESSHPVRNAQSNALQEREDDRVGLVRGEKAR
KGKSSSAQQKTVSSTKLVSFHDDSDEDLLHI
Sequence length 2491
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Virion - Herpesvirus
Lysosome
Endocytosis
  Golgi Associated Vesicle Biogenesis
Neutrophil degranulation
Retrograde transport at the Trans-Golgi-Network
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Pathogenic; Likely pathogenic rs121434587, rs121434588, rs1783569729 RCV000015918
RCV000015919
RCV001170050
Premature ovarian failure Likely pathogenic rs756631085 RCV001270203
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Beckwith-Wiedemann syndrome Uncertain significance rs376138460 RCV003990877
Familial cancer of breast Likely benign rs151180572 RCV005927459
Lung cancer Likely benign rs151180572 RCV005927462
Myoepithelial tumor Uncertain significance rs8191819 RCV002463931
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 17399767, 19626700
Adrenocortical Carcinoma Associate 30838516
Alcoholism Associate 18616667
Alzheimer Disease Associate 33704916
Anemia Aplastic Associate 39179703
Arterial Occlusive Diseases Stimulate 11854734
Autoimmune Diseases Associate 10594701
Beckwith Wiedemann Syndrome Associate 26505556
Birt Hogg Dube Syndrome Stimulate 33143702
Breast Neoplasms Associate 12149131, 19435860, 20347606, 26458823, 36140725, 37684436, 8286193, 9413941