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    MPPED2 metallophosphoesterase domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 744, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MPPED2provided by HGNC
    Official Full Name
    metallophosphoesterase domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:1180
    See related
    Ensembl:ENSG00000066382 MIM:600911; AllianceGenome:HGNC:1180
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    239FB; C11orf8
    Summary
    Predicted to enable manganese ion binding activity; phosphoric diester hydrolase activity; and purine ribonucleotide binding activity. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in thyroid (RPKM 4.7), prostate (RPKM 2.5) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MPPED2 in Genome Data Viewer
    Location:
    11p14.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (30384079..30586993, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (30518331..30721250, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (30405626..30607900, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723403 Neighboring gene ribosomal protein L12 pseudogene 30 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:30428692-30429242 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:30444450-30444950 Neighboring gene NANOG hESC enhancer GRCh37_chr11:30466644-30467145 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:30567071-30568041 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:30568042-30569011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3217 Neighboring gene MPPED2 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2859 Neighboring gene uncharacterized LOC101928338 Neighboring gene uncharacterized LOC107984419

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Association of MPPED2 gene variant rs10767873 with kidney function and risk of cardiovascular disease in patients with hypertension. Zhong Y, et al. J Hum Genet, 2023 Jun. PMID 36797372
    2. MPPED2 is downregulated in glioblastoma, and its restoration inhibits proliferation and increases the sensitivity to temozolomide of glioblastoma cells. Pellecchia S, et al. Cell Cycle, 2021 Apr. PMID 33734003, Free PMC Article
    3. Genome-wide methylation profiling identified novel differentially hypermethylated biomarker MPPED2 in colorectal cancer. Gu S, et al. Clin Epigenetics, 2019 Mar 7. PMID 30846004, Free PMC Article
    4. The metallophosphodiesterase Mpped2 impairs tumorigenesis in neuroblastoma. Liguori L, et al. Cell Cycle, 2012 Feb 1. PMID 22262177
    5. A WAGR region gene between PAX-6 and FSHB expressed in fetal brain. Schwartz F, et al. Hum Genet, 1994 Dec. PMID 7527372

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of MPPED2 gene variant rs10767873 with kidney function and risk of cardiovascular disease in patients with hypertension.
      Title: Association of MPPED2 gene variant rs10767873 with kidney function and risk of cardiovascular disease in patients with hypertension.
    2. MPPED2 is downregulated in glioblastoma, and its restoration inhibits proliferation and increases the sensitivity to temozolomide of glioblastoma cells.
      Title: MPPED2 is downregulated in glioblastoma, and its restoration inhibits proliferation and increases the sensitivity to temozolomide of glioblastoma cells.
    3. CTN2 (rs6655267) and MPPED2 (rs536007) are not associated with primary dentition caries. MPPED2 (rs11031093, G Allele) is marginally associated.
      Title: ACTN2 (rs6656267) and MPPED2 (rs11031093 and rs536007) polymorphisms in primary dentition caries: A case-control study.
    4. Findings indicate that epigenetic alterations of MPPED2 promoter region appear sequentially during the colorectal neoplastic progression.
      Title: Genome-wide methylation profiling identified novel differentially hypermethylated biomarker MPPED2 in colorectal cancer.
    5. The overexpression of Mpped2 improves survival rate, substantially impairs tumor growth and induces neuronal differentiation.
      Title: The metallophosphodiesterase Mpped2 impairs tumorigenesis in neuroblastoma.
    6. The structures of MPPED2 and two mutants show that the poor activity of MPPED2 is not only a consequence of the substitution of an active-site histidine residue by glycine but also due to binding of AMP or GMP to the active site.
      Title: Unique utilization of a phosphoprotein phosphatase fold by a mammalian phosphodiesterase associated with WAGR syndrome.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association and functional follow-up reveals new loci for kidney function.
    EBI GWAS Catalog
    Genome-wide association scan for childhood caries implicates novel genes.
    EBI GWAS Catalog
    Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.
    EBI GWAS Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables AMP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables GMP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables manganese ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphoric diester hydrolase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    metallophosphoesterase MPPED2
    Names
    fetal brain protein 239
    metallophosphoesterase domain-containing protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001145399.3 → NP_001138871.1  metallophosphoesterase MPPED2 isoform 2

      See identical proteins and their annotated locations for NP_001138871.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' and the 3' UTR and contains an alternate exon in the 3' coding region compared to variant 1, that results in a frameshift. It encodes isoform 2, which has a shorter and distinct C-terminus compared to isoform 1. Variants 2 and 7 both encode the same isoform (2).
      Source sequence(s)
      AL136088, AL353699, AL356240
      Consensus CDS
      CCDS44560.1
      UniProtKB/Swiss-Prot
      Q15777
      Related
      ENSP00000388258.2, ENST00000448418.6
      Conserved Domains (1) summary
      cd07379
      Location:59 → 255
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain

    2. NM_001377952.1 → NP_001364881.1  metallophosphoesterase MPPED2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 1 and 4-6, encodes isoform 1.
      Source sequence(s)
      AL136088, AL353699, AL356240
      Consensus CDS
      CCDS7870.1
      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6
      Conserved Domains (1) summary
      cd07379
      Location:59 → 271
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain

    3. NM_001377953.1 → NP_001364882.1  metallophosphoesterase MPPED2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 1, 3, 5, and 6, encodes isoform 1.
      Source sequence(s)
      AL136088, AL353699, AL356240
      Consensus CDS
      CCDS7870.1
      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6
      Conserved Domains (1) summary
      cd07379
      Location:59 → 271
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain

    4. NM_001377954.1 → NP_001364883.1  metallophosphoesterase MPPED2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 1, 3, 4, and 6, encodes isoform 1.
      Source sequence(s)
      AL136088, AL353699, AL356240
      Consensus CDS
      CCDS7870.1
      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6
      Conserved Domains (1) summary
      cd07379
      Location:59 → 271
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain

    5. NM_001377955.1 → NP_001364884.1  metallophosphoesterase MPPED2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 1 and 3-5, encodes isoform 1.
      Source sequence(s)
      AL136088, AL353699, AL356240
      Consensus CDS
      CCDS7870.1
      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6
      Conserved Domains (1) summary
      cd07379
      Location:59 → 271
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain

    6. NM_001377956.1 → NP_001364885.1  metallophosphoesterase MPPED2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variant 2, encodes isoform 2.
      Source sequence(s)
      AL136088, AL353699, AL356240
      Consensus CDS
      CCDS44560.1
      Conserved Domains (1) summary
      cd07379
      Location:59 → 255
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain

    7. NM_001584.3 → NP_001575.1  metallophosphoesterase MPPED2 isoform 1

      See identical proteins and their annotated locations for NP_001575.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3-6 all encode the same isoform (1).
      Source sequence(s)
      AL136088, AL353699, AL356240
      Consensus CDS
      CCDS7870.1
      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6
      Related
      ENSP00000350833.4, ENST00000358117.10
      Conserved Domains (1) summary
      cd07379
      Location:59 → 271
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain

    RNA

    1. NR_165336.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136088, AL353699, AL356240

    2. NR_165337.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136088, AL353699, AL356240

    3. NR_165338.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136088, AL353699, AL356240

    4. NR_165339.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136088, AL353699, AL356240

    5. NR_165340.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136088, AL353699, AL356240

    6. NR_165341.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136088, AL353699, AL356240

    7. NR_165342.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136088, AL353699, AL356240

    8. NR_165343.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136088, AL353699, AL356240

    9. NR_165344.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136088, AL353699, AL356240

    10. NR_165345.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136088, AL353699, AL356240

    11. NR_165346.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136088, AL353699, AL356240

    12. NR_165347.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136088, AL353699, AL356240

    13. NR_165348.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136088, AL353699, AL356240

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      30384079..30586993 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448676.2 → XP_024304444.1  metallophosphoesterase MPPED2 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6
      Conserved Domains (1) summary
      cd07379
      Location:59 → 271
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain

    2. XM_047427525.1 → XP_047283481.1  metallophosphoesterase MPPED2 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6

    3. XM_005253111.3 → XP_005253168.1  metallophosphoesterase MPPED2 isoform X1

      See identical proteins and their annotated locations for XP_005253168.1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6
      Conserved Domains (1) summary
      cd07379
      Location:59 → 271
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain

    4. XM_047427524.1 → XP_047283480.1  metallophosphoesterase MPPED2 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6

    5. XM_017018231.2 → XP_016873720.1  metallophosphoesterase MPPED2 isoform X2

    6. XM_005253114.5 → XP_005253171.1  metallophosphoesterase MPPED2 isoform X3

      Conserved Domains (2) summary
      COG1409
      Location:59 → 120
      CpdA; 3',5'-cyclic AMP phosphodiesterase CpdA [Signal transduction mechanisms]
      cd07379
      Location:59 → 125
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain

    RNA

    1. XR_007062496.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      30518331..30721250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369823.1 → XP_054225798.1  metallophosphoesterase MPPED2 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6

    2. XM_054369825.1 → XP_054225800.1  metallophosphoesterase MPPED2 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6

    3. XM_054369822.1 → XP_054225797.1  metallophosphoesterase MPPED2 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6

    4. XM_054369824.1 → XP_054225799.1  metallophosphoesterase MPPED2 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6

    5. XM_054369826.1 → XP_054225801.1  metallophosphoesterase MPPED2 isoform X2

    6. XM_054369827.1 → XP_054225802.1  metallophosphoesterase MPPED2 isoform X4

    7. XM_054369828.1 → XP_054225803.1  metallophosphoesterase MPPED2 isoform X3

    RNA

    1. XR_008488428.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15777.1 GenPept UniProtKB/Swiss-Prot:Q15777

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