| Tag | Content |
|---|---|
| Uniprot ID | Q07113; Q61822; Q6LED1; |
| Entrez ID | 16004 |
| Genbank protein ID | AAA16037.1; AAA19568.1; AAA98844.1; AAA37922.1; AAA39483.1; AAA39320.1; CAA42940.1; AAA37921.1; |
| Genbank nucleotide ID | NM_010515.2 |
| Ensembl protein ID | ENSMUSP00000024599 |
| Ensembl nucleotide ID | ENSMUSG00000023830 |
| Gene name | Cation-independent mannose-6-phosphate receptor |
| Gene symbol | Igf2r |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 9389646 |
| Functional description | Acts as a positive regulator of T-cell coactivation, by binding DPP4 (By similarity). 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. |
| Sequence | MRAVQLGPVP SGPRVALLPP LLLLLLLAAA GSAQAQAVDL DALCSYTWEA VDSKNNAVYK 60 INVCGNVGIS SCGPTSAICM CDLKTENCRS VGDSLLRSSA RSLLEFNTTM GCQPSDSQHR 120 IQTSITFLCG KTLGTPEFVT ATDCVHYFEW RTTAACKKDI FKADKEVPCY AFDDKLQKHD 180 LNPLIKLNGG YLVDDSDPDT SLFINVCRDI DSLRDPSTQL RVCPAGTAAC LLKGNQAFDV 240 GRPKEGLKLL SKDRLVLTYV KEEGEKPDFC NGHSPAVTVT FVCPSERREG TIPKLTAKSN 300 CRYEVEWITE YACHRDYLQS ESCSLSSEQH DITIDLSPLA QYGGSPYVSD GREYTFFINV 360 CGDTKVSLCN NKEAAVCQEK KADSTQVKIA GRHQNQTLRY SDGDLTLIYS GGDECSSGFQ 420 RMSVINFECN KTAGKDGRGE PVFTGEVDCT YFFTWDTKYA CIKEKEDLLC GAINGKKRYD 480 LSVLARHSES EQNWEAVDGS QAESEKYFFI NVCHRVLQEG KARNCPEDAA VCAVDKNGSK 540 NLGKFVSSPT KEKGHIQLSY TDGDDCGSDK KISTNITLVC KPGDLESAPV LRAARSDGCF 600 YEFEWHTAAA CVLSKTEGEN CTVLDAQAGF SFDLSLLTKK NGAYKVETEK YDFYINVCGP 660 VSMDPCQSNS GACQVAKSGK SWNLGLSSTK LTYYDGMIQL SYRNGTPYNN EKHTPRATLI 720 TFLCDRDAGV GFPEYQEEDN STYNFRWYTS YACPEEPLEC MVTDPSMMEQ YDLSSLVKSE 780 GGSGGNWYAM ENSREHVTRR KYYLNVCRPL NPVPGCDRYA SACQMKYENH EGSLAETVSI 840 SNLGVAKIGP VVEESGSLLL EYVNGSACTT SDGQLTTYST RIHLVCGRGF MNSHPIFTFN 900 WECVVSFLWN TEAACPIQTI TETDQACSIR DPSSGFVFNL SPLNDSAQGH VVLGIGKTFV 960 FNICGAMPAC GTVAGKPAYG CEAETQIEDI KDLRPQRPVG MERSLQLSAE GFLTLTYKGS 1020 SPSDRGTAFI IRFICNDDIY PGAPKFLHQD IDSTRGIRNT YFEFETALAC TPSLVDCQVT 1080 DPAGNEYDLS ALSMVRKPWT AVDTSAYGKR RHFYLSVCNP LPYIPGCHGI ALGSCMVSED 1140 NSFNLGVVQI SPQATGNGSL SILYVNGDRC GDQRFSTRIV FECAQTSGSP MFQFVNNCEY 1200 VFVWRTVEAC PVIREEGDNC QVKDPRHGNL YDLKPLGLND TIVSVGEYTY YLRVCGKLSS 1260 DVCSAHDGSK AVSSCQEKKG PQGFQKVAGL LSQKLTFENG LLKMNYTGGD TCHKVYQRST 1320 TIYFYCDRTT QKPVFLKETS DCSYMFEWRT QYACPPFNVT ECSVQDAAGN SIDLSSLSRY 1380 SDNWEAVTRT GATEHYLINV CKSLSPHAGT EPCPPEAAVC LLNGSKPVNL GKVRDGPQWT 1440 DGVTVLQYVD GDLCPDKIRR RSTIIRFTCS DNQVNSRPLF ISAVQDCEYT FSWPTPSACP 1500 VKSNTHDDCQ VTNPSTGHLF DLSSLSGRAG INASYSEKGL VFMSICEENE NCGPGVGACF 1560 GQTRISVGKA SKRLSYKDQV LQLVYENGSP CPSLSDLRYK SVISFVCRPE AGPTNRPMLI 1620 SLDKQTCTLF FSWHTPLACE QATECTVRNG SSIIDLSPLI HRTGGYEAYD ESEDDTSDTT 1680 PDFYINICQP LNPMHGVPCP AGASVCKVPV DGPPIDIGRV TGPPIFNPVA NEVYLNFESS 1740 THCLADRYMN YTSLITFHCK RGVSMGTPKL IRTNDCDFVF EWETPIVCPD EVKTQGCAVT 1800 DEQLLYSFNL TSLSTSTFKV TRDARTYSIG VCTAAAGLGQ EGCKDGGVCL LSGNKGASFG 1860 RLASMQLDYR HQDEAVILSY VNGDPCPPET DDGEPCVFPF IYKGKSYDEC VLEGRAKLWC 1920 SKTANYDRDH EWGFCRQTNS YRMSAIIFTC DESEDIGRPQ VFSEDRGCEV TFEWKTKVVC 1980 PPKKMECKFV QKHKTYDLRL LSSLTGSWDF VHEGNSYFIN LCQRVYKGPL DCSERASICK 2040 KSATGQVQVL GLVHTQKLEV IDETVIVTYS KGYPCGGNKT ASSVIELTCA KTVGRPAFKR 2100 FDSVSCTYYF YWYSRAACAV RPQEVTMVNG TLTNPVTGKS FSLGEIYFKL FSASGDMRTN 2160 GDNYLYEIQL SSITSSSYPA CAGANICQVK PNDQHFSRKV GTSDMTKYYV QDGDLDVVFT 2220 SSSKCGKDKT KSVSSTIFFH CDPLVKDGIP EFSHETADCQ YLFSWYTSAV CPLGVDFEDE 2280 SAGPEYKGLS ERSQAVGAVL SLLLVALTGC LLALLLHKKE RRETVINKLT SCCRRSSGVS 2340 YKYSKVSKEE ETDENETEWL MEEIQVPAPR LGKDGQENGH ITTKAVKAEA LSSLHGDDQD 2400 SEDEVLTVPE VKVHSGRGAE VESSQPLRNP QRKVLKEREG ERLGLVRGEK ARKGKFRPGQ 2460 RKPTAPAKLV SFHDDSDEDL LHI 2483 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | IGF2R | 484067 | B1H0W0 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | IGF2R | 100860744 | A0A452E644 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | IGF2R | 3482 | P11717 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Igf2r | 16004 | Q07113 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | IGF2R | 463112 | H2QU01 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | IGF2R | F1SB67 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Igf2r | 25151 | G3V824 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | igf2r | 557061 | Q2TTK0 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001965 | G-protein alpha-subunit binding | ISO |
| GO:0001972 | retinoic acid binding | ISO |
| GO:0005515 | protein binding | ISS |
| GO:0005515 | protein binding | IPI |
| GO:0005520 | insulin-like growth factor binding | IPI |
| GO:0005520 | insulin-like growth factor binding | IBA |
| GO:0005537 | mannose binding | IDA |
| GO:0019899 | enzyme binding | ISO |
| GO:0031995 | insulin-like growth factor II binding | ISO |
| GO:0038023 | signaling receptor activity | IEA |
| GO:0042802 | identical protein binding | ISO |
| GO:0051219 | phosphoprotein binding | ISS |
| GO:0051219 | phosphoprotein binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001889 | liver development | ISO |
| GO:0007041 | lysosomal transport | IEA |
| GO:0007186 | G protein-coupled receptor signaling pathway | ISO |
| GO:0007283 | spermatogenesis | IEA |
| GO:0009791 | post-embryonic development | IEA |
| GO:0031100 | animal organ regeneration | IEA |
| GO:0032526 | response to retinoic acid | ISO |
| GO:0042981 | regulation of apoptotic process | ISO |
| GO:0043065 | positive regulation of apoptotic process | ISO |
| GO:0044794 | positive regulation by host of viral process | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005615 | extracellular space | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005641 | nuclear envelope lumen | IDA |
| GO:0005765 | lysosomal membrane | IEA |
| GO:0005768 | endosome | ISO |
| GO:0005768 | endosome | IBA |
| GO:0005769 | early endosome | ISO |
| GO:0005770 | late endosome | ISO |
| GO:0005770 | late endosome | IBA |
| GO:0005794 | Golgi apparatus | ISO |
| GO:0005802 | trans-Golgi network | ISO |
| GO:0005802 | trans-Golgi network | IBA |
| GO:0005886 | plasma membrane | ISO |
| GO:0005886 | plasma membrane | IBA |
| GO:0009986 | cell surface | ISS |
| GO:0009986 | cell surface | ISO |
| GO:0016020 | membrane | IDA |
| GO:0016021 | integral component of membrane | IEA |
| GO:0030118 | clathrin coat | ISO |
| GO:0030139 | endocytic vesicle | ISS |
| GO:0030139 | endocytic vesicle | ISO |
| GO:0030140 | trans-Golgi network transport vesicle | ISO |
| GO:0048471 | perinuclear region of cytoplasm | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-168249 | Innate Immune System | IEA |
| R-MMU-168256 | Immune System | IEA |
| R-MMU-199991 | Membrane Trafficking | IEA |
| R-MMU-199992 | trans-Golgi Network Vesicle Budding | IEA |
| R-MMU-432722 | Golgi Associated Vesicle Biogenesis | IEA |
| R-MMU-5653656 | Vesicle-mediated transport | IEA |
| R-MMU-6798695 | Neutrophil degranulation | IEA |
| R-MMU-6811440 | Retrograde transport at the Trans-Golgi-Network | IEA |
| R-MMU-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic | IEA |
| R-MMU-8856825 | Cargo recognition for clathrin-mediated endocytosis | IEA |
| R-MMU-8856828 | Clathrin-mediated endocytosis | IEA |