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

    Gene ID: 744, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001145399.3NP_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:59255
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain
    2. NM_001377952.1NP_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:59271
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain
    3. NM_001377953.1NP_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:59271
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain
    4. NM_001377954.1NP_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:59271
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain
    5. NM_001377955.1NP_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:59271
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain
    6. NM_001377956.1NP_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:59255
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain
    7. NM_001584.3NP_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:59271
      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_024448676.2XP_024304444.1  metallophosphoesterase MPPED2 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6
      Conserved Domains (1) summary
      cd07379
      Location:59271
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain
    2. XM_047427525.1XP_047283481.1  metallophosphoesterase MPPED2 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6
    3. XM_005253111.3XP_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:59271
      MPP_239FB; Homo sapiens 239FB and related proteins, metallophosphatase domain
    4. XM_047427524.1XP_047283480.1  metallophosphoesterase MPPED2 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6
    5. XM_017018231.2XP_016873720.1  metallophosphoesterase MPPED2 isoform X2

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

      Conserved Domains (2) summary
      COG1409
      Location:59120
      CpdA; 3',5'-cyclic AMP phosphodiesterase CpdA [Signal transduction mechanisms]
      cd07379
      Location:59125
      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_054369823.1XP_054225798.1  metallophosphoesterase MPPED2 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6
    2. XM_054369825.1XP_054225800.1  metallophosphoesterase MPPED2 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6
    3. XM_054369822.1XP_054225797.1  metallophosphoesterase MPPED2 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6
    4. XM_054369824.1XP_054225799.1  metallophosphoesterase MPPED2 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ5, E9PB10, Q15777, Q59GE6
    5. XM_054369826.1XP_054225801.1  metallophosphoesterase MPPED2 isoform X2

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

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

    RNA

    1. XR_008488428.1 RNA Sequence