Human Gene IGF2R (uc003qta.3) Description and Page Index
Description: Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA. RefSeq Summary (NM_000876): 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 of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Y00285.1, J03528.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## imprinted gene :: PMID: 8267611 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr6:160,390,131-160,527,583 Size: 137,453 Total Exon Count: 48 Strand: + Coding Region Position: hg19 chr6:160,390,279-160,526,116 Size: 135,838 Coding Exon Count: 48
ID:MPRI_HUMAN DESCRIPTION: RecName: Full=Cation-independent mannose-6-phosphate receptor; Short=CI Man-6-P receptor; Short=CI-MPR; Short=M6PR; AltName: Full=300 kDa mannose 6-phosphate receptor; Short=MPR 300; AltName: Full=Insulin-like growth factor 2 receptor; AltName: Full=Insulin-like growth factor II receptor; Short=IGF-II receptor; AltName: Full=M6P/IGF2 receptor; Short=M6P/IGF2R; AltName: CD_antigen=CD222; Flags: Precursor; FUNCTION: Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6- phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4. SUBUNIT: Binds HA-I and HA-II plasma membrane adapters (By similarity). Interacts with DPP4; the interaction is direct. Binds GGA1, GGA2 and GGA3. SUBCELLULAR LOCATION: Lysosome membrane; Single-pass type I membrane protein. Note=Colocalized with DPP4 in internalized cytoplasmic vesicles adjacent to the cell surface. DOMAIN: Contains 15 repeating units of approximately 147 AA harboring four disulfide bonds each. The most highly conserved region within the repeat consists of a stretch of 13 AA that contains cysteines at both ends. SIMILARITY: Belongs to the MRL1/IGF2R family. SIMILARITY: Contains 1 fibronectin type-II domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/IGF2RID380.html"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/igf2r/";
Genetic Association Studies of Complex Diseases and Disorders
birth weight fetal growth Kaku, K. et al. 2007, Insulin-like growth factor 2 (IGF2) and IGF2 receptor gene variants are associated with fetal growth, Acta Paediatr 2007 96(3) 363-7.
These findings indicate that both IGF2 and IGF2R gene variants are associated with fetal growth.
Brain lesion load Baranzini ,et al. 2008, Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis, Human molecular genetics 2009 18- 4 : 767-78.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P11717
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.