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M6PR Gene

protein-coding   GIFtS: 66
GCID: GC12M009092

Mannose-6-Phosphate Receptor (Cation Dependent)

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mannose-6-Phosphate Receptor (Cation Dependent)1 2     SMPR2
CD-MPR2 3     Cation-Dependent Mannose-6-Phosphate Receptor2
MPR462 3     Mr 46,000 Man6PR2
CD Man-6-P Receptor2 3     Small Mannose 6-Phosphate Receptor2
MPR 462 3     46 KDa Mannose 6-Phosphate Receptor3
46-KDa Mannose 6-Phosphate Receptor2     MPRD3
MPR-462     

External Ids:    HGNC: 67521   Entrez Gene: 40742   Ensembl: ENSG000000030567   OMIM: 1545405   UniProtKB: P206453   

Export aliases for M6PR gene to outside databases

Previous GC identifers: GC12M008801 GC12M009241 GC12M008993 GC12M008984


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for M6PR Gene:
This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function
through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to
lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding.
Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A
pseudogene of this gene is located on the long arm of chromosome X. (provided by RefSeq, May 2011)

GeneCards Summary for M6PR Gene:
M6PR (mannose-6-phosphate receptor (cation dependent)) is a protein-coding gene. Diseases associated with M6PR include acid sphingomyelinase deficiency, and pick's disease. GO annotations related to this gene include transmembrane signaling receptor activity and mannose transmembrane transporter activity.

UniProtKB/Swiss-Prot: MPRD_HUMAN, P20645
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

Gene Wiki entry for M6PR (Cation-dependent mannose-6-phosphate receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the M6PR gene promoter:
         AhR   USF1   SREBP-1c   C/EBPalpha   SREBP-1b   IRF-2   SREBP-1a   USF-1   HFH-1   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidM6PR promoter sequence
   Search Chromatin IP Primers for M6PR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat M6PR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13.31

M6PR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
M6PR gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M009092:  view genomic region     (about GC identifiers)

Start:
9,092,957 bp from pter      End:
9,102,551 bp from pter
Size:
9,595 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MPRD_HUMAN, P20645 (See protein sequence)
Recommended Name: Cation-dependent mannose-6-phosphate receptor precursor  
Size: 277 amino acids; 30993 Da
Subunit: Homodimer. Binds GGA1, GGA2 and GGA3
Miscellaneous: This receptor has optimal binding in the presence of divalent cations
1 PDB 3D structure from and Proteopedia for M6PR:
1JUQ (3D)    
Secondary accessions: A8K528 D3DUV5

Explore the universe of human proteins at neXtProt for M6PR: NX_P20645

Explore proteomics data for M6PR at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn57, Asn83, Asn94, Asn107, Asn113
  • Modification sites at PhosphoSitePlus

  • See M6PR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001193953.1  NP_002346.1  

    ENSEMBL proteins: 
     ENSP00000439070   ENSP00000442100   ENSP00000000412   ENSP00000441040   ENSP00000437595  
     ENSP00000444684   ENSP00000442983   ENSP00000439968   ENSP00000440962   ENSP00000441030  
    Reactome Protein details: P20645

    M6PR Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000296 Man_6_P_rcpt
     IPR009011 Man6P_isomerase_rcpt-bd_dom

    Graphical View of Domain Structure for InterPro Entry P20645

    ProtoNet protein and cluster: P20645

    1 Blocks protein domain: IPB000296 Cation-dependent mannose-6-phosphate receptor signature

    UniProtKB/Swiss-Prot: MPRD_HUMAN, P20645
    Domain: The extracellular domain is homologous to the repeating units (of approximately 147 AA) of the
    cation-independent mannose 6-phosphate receptor


    M6PR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MPRD_HUMAN, P20645
    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

         Genatlas biochemistry entry for M6PR:
    mannose 6-phosphate receptor,cation dependent ,expressed on the cell surface of Golgi and late endosome
    membrane,targetting phosphorylated enzymes to lysosomes

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity TAS10799489
    GO:0005537mannose binding IEA--
    GO:0015578mannose transmembrane transporter activity IEA--
         
    M6PR for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for M6PR:
     Decreased Wnt reporter activit  Increased G2M DNA content 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for M6pr):
     behavior/neurological  cellular  growth/size/body  homeostasis/metabolism  mortality/aging 
     renal/urinary system  reproductive system  skeleton 

    M6PR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for M6PR: M6prtm1Psa M6prtm1Hlk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for M6PR
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    miRNA
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    miRTarBase miRNAs that target M6PR:
    hsa-mir-204-5p (MIRT005835), hsa-mir-149-5p (MIRT045509), hsa-mir-484 (MIRT041910)

    Block miRNA regulation of human, mouse, rat M6PR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate M6PR (see all 59):
    hsa-miR-21* hsa-miR-579 hsa-miR-15a hsa-miR-106a hsa-let-7a-2* hsa-miR-301a hsa-miR-424 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidM6PR 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MPRD_HUMAN, P20645: Lysosome membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    lysosome5
    vacuole5
    plasma membrane4
    extracellular3
    golgi apparatus3
    endoplasmic reticulum2
    cytosol1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000323lytic vacuole ----
    GO:0005765lysosomal membrane IEA--
    GO:0005768endosome IDA15078902
    GO:0005770late endosome IEA--
    GO:0005887integral component of plasma membrane TAS10799489

    M6PR for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for M6PR About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    Lysosome Vesicle Biogenesis0.41
    trans-Golgi Network Vesicle Budding0.89
    Membrane Trafficking0.32
    2Phagosome
    Phagosome
    3Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for M6PR
        Lysosome Vesicle Biogenesis


    2 Kegg Pathways  (Kegg details for M6PR):
        Lysosome
    Phagosome


    M6PR for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for M6PR
    Interactions:

        GeneGlobe Interaction Network for M6PR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for M6PR (P206452, 3 ENSP000000004124) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GGA1Q9UJY52, 3, ENSP000003413444MINT-18661 I2D: score=3 STRING: ENSP00000341344
    GGA3Q9NZ522, 3, ENSP000002455414MINT-18640 I2D: score=3 STRING: ENSP00000245541
    PLIN3O606643, ENSP000002219574I2D: score=3 STRING: ENSP00000221957
    RENP007973, ENSP000002721904I2D: score=1 STRING: ENSP00000272190
    GGA2Q9UJY43, ENSP000003119624I2D: score=2 STRING: ENSP00000311962
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006898receptor-mediated endocytosis TAS10799489
    GO:0007165signal transduction TAS10799489
    GO:0008333endosome to lysosome transport TAS10799489

    M6PR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for M6PR (MPRD)

    1 HMDB Compound for M6PR    About this table
    CompoundSynonyms CAS #PubMed Ids
    Mannose 6-phosphateD-Mannose 6-phosphate (see all 10)3672-15-9--

    3 DrugBank Compounds for M6PR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-3 Sugar Ring of Pentamannosyl 6-Phosphate-- --target--17139284 17016423 10592235
    Alpha-D-Mannose-6-Phosphate-- --target--17139284 17016423 10592235
    Alglucosidase alfa-- 420784-05-0targetbinder17927214

    Selected Novoseek inferred chemical compound relationships for M6PR gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 6-phosphate 99 577 12535273 (7), 9152028 (5), 8163521 (5), 2170115 (4) (see all 99)
    mannose 70.4 17 11801606 (1), 14557264 (1), 18838694 (1), 8435067 (1) (see all 15)
    3-(2,4-dinitroanilino)-3'-amino-n-methyldipropylamine 70.3 1 9278305 (1)
    nh4cl 64 6 7957663 (1), 9571245 (1), 8424762 (1), 1377692 (1) (see all 6)
    ricin 49.2 10 12154075 (3), 11102518 (1), 17389686 (1), 11452006 (1)
    heparan sulfate 44.8 2 16280358 (2)
    phosphoric acid 42.6 3 1847138 (1), 8950040 (1)
    tunicamycin 38.8 3 1847926 (1), 8647129 (1), 8621689 (1)
    bafilomycin a1 34.4 1 8647129 (1)
    monensin 30.2 1 11444150 (1)



    M6PR for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for M6PR gene (2 alternative transcripts): 
    NM_001207024.1  NM_002355.3  

    Unigene Cluster for M6PR:

    Mannose-6-phosphate receptor (cation dependent)
    Hs.134084  [show with all ESTs]
    Unigene Representative Sequence: NM_002355
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000539143 ENST00000541507 ENST00000000412(uc001qvf.3 uc021quk.1)
    ENST00000544193 ENST00000543704 ENST00000537621 ENST00000543258 ENST00000543834
    ENST00000544245 ENST00000540837 ENST00000543845 ENST00000543159
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Selected qRT-PCR Assays for microRNAs that regulate M6PR (see all 59):
    hsa-miR-21* hsa-miR-579 hsa-miR-15a hsa-miR-106a hsa-let-7a-2* hsa-miR-301a hsa-miR-424 hsa-miR-9
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    Additional mRNA sequence: 

    AK222792.1 AK291143.1 AK312689.1 BC017111.1 BC024206.1 CR457412.1 M16985.1 

    Selected DOTS entries (see all 31):

    DT.92461710  DT.99952542  DT.95140600  DT.91823927  DT.121125363  DT.95140538  DT.121125259  DT.121125309 
    DT.100798763  DT.92461707  DT.101959691  DT.100798750  DT.40229521  DT.121125323  DT.75194392  DT.100798771 
    DT.99955155  DT.121125285  DT.121125337  DT.92059916  DT.95140574  DT.100798747  DT.100798761  DT.121125379 

    Selected AceView cDNA sequences (see all 724):

    CR616312 BQ712013 BQ711958 AA593608 BU738795 AU130397 AI953305 BC024206 
    BU542014 CB528848 CD743020 AW166940 CD365016 AU131781 BE047627 BU609171 
    T99739 AU130445 CA442323 BQ063972 AU130762 AA370358 AW851219 AU134045 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for M6PR (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b
    SP1:                    -     -                                               -                 -                                       
    SP2:                    -     -     -                                         -                 -                                       
    SP3:                    -     -                       -     -                 -                 -                                       
    SP4:                                            -     -     -     -     -     -                 -                                       
    SP5:                    -                                                                                                               


    ECgene alternative splicing isoforms for M6PR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    M6PR expression in normal human tissues (normalized intensities)      M6PR embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTCCACTGG
    M6PR Expression
    About this image


    M6PR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Kidney (Urinary System)
     
     Uterus (Reproductive System)
     
     Lung (Respiratory System)
    M6PR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    M6PR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.134084
        Custom PCR Arrays for M6PR
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for M6PR gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia M6pr1 , 5 mannose-6-phosphate receptor, cation dependent1, 5 87.97(n)1
    92.06(a)1
      6 (57.52 cM)5
    171131  NM_010749.61  NP_034879.21 
     1223087205 
    chicken
    (Gallus gallus)
    Aves M6PR1 mannose-6-phosphate receptor (cation dependent) 70.15(n)
    70.28(a)
      396044  XM_416477.4  XP_416477.3 
    lizard
    (Anolis carolinensis)
    Reptilia M6PR6
    mannose-6-phosphate receptor (cation dependent)
    65(a)
    1 ↔ 1
    2(81594900-81601337)
    African clawed frog
    (Xenopus laevis)
    Amphibia m6pr-prov2 mannose-6-phosphate receptor (cation dependent) 77.89(n)    BC055993.1 
    zebrafish
    (Danio rerio)
    Actinopterygii m6pr1 mannose-6-phosphate receptor (cation dependent) 58.26(n)
    52.94(a)
      406486  NM_213205.1  NP_998370.1 


    ENSEMBL Gene Tree for M6PR (if available)
    TreeFam Gene Tree for M6PR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for M6PR gene

    M6PR for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for M6PR
    PGOHUM00000258678 PGOHUM00000241947


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for M6PR (see all 215)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2012358421,2
    C--9094583(+) AACTTT/CAGGAT 2 -- int11Minor allele frequency- C:0.00EU 1295
    rs1503989961,2
    C--9094639(+) TTCTAC/TAGGGA 2 -- int10--------
    rs576083271,2
    C,F--9094689(+) TCAATC/TTGGGG 2 -- int12Minor allele frequency- T:0.50WA CSA 4
    rs1440923461,2
    --9094699(+) GCAACA/GGGAGA 2 -- int10--------
    rs1473106891,2
    --9094805(+) CTCTTG/TCAGCA 2 -- int10--------
    rs776900311,2
    C--9094810(+) CAGCA-/TCAATGTC 2 -- cds10--------
    rs1847724111,2
    --9094932(+) CCCCCC/TCAGTG 2 -- int10--------
    rs1392061411,2
    --9094955(+) GATGGC/TTGGTC 2 -- int10--------
    rs413141351,2
    C--9094981(-) TTTGTA/CGCCTG 2 -- int10--------
    rs1174246091,2
    C,F--9094982(+) AGGCTA/GCAAAT 2 -- int12Minor allele frequency- G:0.03NA EU 1444

    HapMap Linkage Disequilibrium report for M6PR (9092957 - 9102551 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for M6PR:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832327CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing M6PR
    DNA2.0 Custom Variant and Variant Library Synthesis for M6PR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 154540    OMIM disorders: --

    18 diseases for M6PR:    About MalaCards
    acid sphingomyelinase deficiency    pick's disease    niemann-pick disease    fabry disease
    mucopolysaccharidosis    lysosomal storage disease    batten disease    neuronal ceroid lipofuscinosis
    epididymitis    major depressive disorder    alzheimer's disease    myopathy
    hypertension    breast cancer    cervicitis    neuronitis
    hiv-1    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for M6PR:
    Lysosomal storage disease

    M6PR for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for M6PR gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    i-cell disease 85.6 4 11451951 (1)
    lysosomal storage diseases 73.4 3 18838694 (1), 20040307 (1), 8527473 (1)
    pompe disease 64.3 3 19046416 (1), 2268275 (1)
    niemann-pick diseases 56.9 1 10407147 (1)
    mps iiia 54 2 15542395 (1), 9405287 (1)
    fabry disease 53.8 1 16532254 (1)
    enzyme deficiency 45.5 1 8764823 (1)
    aids 3.28 1 8164745 (1)
    tumors 2.43 3 10849765 (1), 20234093 (1), 8486360 (1)
    necrosis 1.55 1 8486360 (1)

    Genetic Association Database (GAD): M6PR
    Human Genome Epidemiology (HuGE) Navigator: M6PR (4 documents)

    Export disorders for M6PR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for M6PR gene, integrated from 10 sources (see all 297):
    (articles sorted by number of sources associating them with M6PR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and analysis of the human 46-kDa mannose 6-phosphate receptor gene. (PubMed id 1849818)1, 2, 9 Klier H.J.... Pohlmann R. (Eur. J. Biochem. 1991)
    2. Sorting of mannose 6-phosphate receptors mediated by the GGAs. (PubMed id 11387475)1, 2, 9 Puertollano R....Bonifacino J.S. (Science 2001)
    3. Putative association of polymorphism in the mannose 6-phosphate receptor gene with major depression and Alzheimer's disease. (PubMed id 15167696)1, 4, 9 KAPlsch H....Heun R. (Psychiatr. Genet. 2004)
    4. High-density association study and nomination of susceptibility genes for hypertension in the Japanese National Project. (PubMed id 18003638)1, 4 Kato N....Tomoike H. (Hum. Mol. Genet. 2008)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Interaction of the cation-dependent mannose 6-phosphate receptor with GGA proteins. (PubMed id 11886874)1, 2 Doray B.... Kornfeld S. (J. Biol. Chem. 2002)
    8. Cloning of a cDNA encoding the human cation-dependent mannose 6- phosphate-specific receptor. (PubMed id 2441386)1, 2 Pohlmann R.... von Figura K. (Proc. Natl. Acad. Sci. U.S.A. 1987)
    9. The overexpressed human 46-kDa mannose 6-phosphate receptor mediates endocytosis and sorting of beta-glucuronidase. (PubMed id 2172972)1, 9 Watanabe H....Sly W.S. (Proc. Natl. Acad. Sci. U.S.A. 1990)
    10. Intermonomer interactions are essential for lysosomal enzyme binding by the cation-dependent mannose 6-phosphate receptor. (PubMed id 19928875)1, 9 Olson L.J....Kim J.J. (Biochemistry 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4074 HGNC: 6752 AceView: M6PR Ensembl:ENSG00000003056 euGenes: HUgn4074
    ECgene: M6PR Kegg: 4074 H-InvDB: M6PR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for M6PR Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for M6PR gene:
    Search GeneIP for patents involving M6PR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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