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

Gene ID: 744, updated on 2-Nov-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, Nov 2024]
Expression
Biased expression in thyroid (RPKM 4.7), prostate (RPKM 2.5) and 11 other tissues See more
Orthologs
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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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