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Aliases for MPPED2 Gene

Aliases for MPPED2 Gene

  • Metallophosphoesterase Domain Containing 2 2 3 5
  • Metallophosphoesterase Domain-Containing Protein 2 3 4
  • Fetal Brain Protein 239 3 4
  • C11orf8 3 4
  • 239FB 3 4
  • Chromosome 11 Open Reading Frame 8 2
  • Metallophosphoesterase MPPED2 3
  • EC 3.1.-.- 4
  • FAM1B 4

External Ids for MPPED2 Gene

Previous HGNC Symbols for MPPED2 Gene

  • C11orf8

Previous GeneCards Identifiers for MPPED2 Gene

  • GC11M030389
  • GC11M030098

Summaries for MPPED2 Gene

Entrez Gene Summary for MPPED2 Gene

  • This gene likely encodes a metallophosphoesterase. The encoded protein may play a role a brain development. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

GeneCards Summary for MPPED2 Gene

MPPED2 (Metallophosphoesterase Domain Containing 2) is a Protein Coding gene. Diseases associated with MPPED2 include Aniridia 1. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is MPPED1.

UniProtKB/Swiss-Prot for MPPED2 Gene

  • Displays low metallophosphoesterase activity (in vitro). May play a role in the development of the nervous system (By similarity).

Additional gene information for MPPED2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPPED2 Gene

Genomics for MPPED2 Gene

GeneHancer (GH) Regulatory Elements for MPPED2 Gene

Promoters and enhancers for MPPED2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I030583 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 554.6 +1.2 1221 3.8 NFIB ZSCAN4 SIN3A FEZF1 ZNF335 GLIS2 ZNF391 ZBTB11 ZNF398 ELF1 MPPED2 LOC105376609
GH11I030991 Promoter/Enhancer 1.2 EPDnew ENCODE 12.1 -405.6 -405630 1.1 SOX13 FOXA2 SAP130 ARID4B BACH1 ZNF644 YY1 NFE2 HOMEZ MAFK DCDC5 DCDC1 MPPED2 GC11P030983
GH11I030486 Enhancer 1.4 FANTOM5 Ensembl ENCODE 6.8 +98.5 98496 2.8 PKNOX1 FOXA2 SIN3A FEZF1 YY1 SLC30A9 ZNF213 RXRA KAT8 NFIL3 MPPED2 ARL14EP FSHB ENSG00000255480 GC11P030582
GH11I030919 Enhancer 0.7 Ensembl ENCODE 6.4 -332.7 -332740 1.2 PKNOX1 POLR2A IKZF1 IKZF2 SPI1 MPPED2 LOC105376611 GC11P030983 DCDC5 DCDC1
GH11I030559 Enhancer 0.6 Ensembl ENCODE 5 +26.1 26146 2 PRDM6 POU5F1 MPPED2 GC11P030582 ENSG00000255480
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MPPED2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MPPED2 gene promoter:

Genomic Locations for MPPED2 Gene

Genomic Locations for MPPED2 Gene
202,380 bases
Minus strand

Genomic View for MPPED2 Gene

Genes around MPPED2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPPED2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPPED2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPPED2 Gene

Proteins for MPPED2 Gene

  • Protein details for MPPED2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Metallophosphoesterase MPPED2
    Protein Accession:
    Secondary Accessions:
    • D3DQZ5
    • E9PB10
    • Q59GE6

    Protein attributes for MPPED2 Gene

    294 amino acids
    Molecular mass:
    33360 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Name=Co(2+); Xref=ChEBI:CHEBI:48828;
    Quaternary structure:
    • Homodimer.
    • Sequence=BAD92400.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MPPED2 Gene


neXtProt entry for MPPED2 Gene

Post-translational modifications for MPPED2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MPPED2 Gene

Domains & Families for MPPED2 Gene

Gene Families for MPPED2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MPPED2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the UPF0046 family.
  • Belongs to the UPF0046 family.
genes like me logo Genes that share domains with MPPED2: view

Function for MPPED2 Gene

Molecular function for MPPED2 Gene

UniProtKB/Swiss-Prot Function:
Displays low metallophosphoesterase activity (in vitro). May play a role in the development of the nervous system (By similarity).

Enzyme Numbers (IUBMB) for MPPED2 Gene

Phenotypes From GWAS Catalog for MPPED2 Gene

Gene Ontology (GO) - Molecular Function for MPPED2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19060904
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MPPED2: view
genes like me logo Genes that share phenotypes with MPPED2: view

Animal Model Products

miRNA for MPPED2 Gene

miRTarBase miRNAs that target MPPED2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MPPED2 Gene

Localization for MPPED2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPPED2 gene
Compartment Confidence
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
  • Vesicles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MPPED2 Gene

Pathways & Interactions for MPPED2 Gene

SuperPathways for MPPED2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MPPED2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development TAS 7527372
genes like me logo Genes that share ontologies with MPPED2: view

No data available for Pathways by source and SIGNOR curated interactions for MPPED2 Gene

Drugs & Compounds for MPPED2 Gene

No Compound Related Data Available

Transcripts for MPPED2 Gene

Unigene Clusters for MPPED2 Gene

Metallophosphoesterase domain containing 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MPPED2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - - - - - - -
SP2: - -
SP4: - - -
SP5: -
SP6: -
SP7: - - - - - -
SP8: - - -

Relevant External Links for MPPED2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MPPED2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPPED2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MPPED2 Gene

This gene is overexpressed in Thyroid (x4.6).

Protein differential expression in normal tissues from HIPED for MPPED2 Gene

This gene is overexpressed in Fetal Brain (34.1), Retina (11.4), Fetal heart (6.9), and Testis (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MPPED2 Gene

Protein tissue co-expression partners for MPPED2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MPPED2 Gene:


SOURCE GeneReport for Unigene cluster for MPPED2 Gene:


mRNA Expression by UniProt/SwissProt for MPPED2 Gene:

Tissue specificity: Expressed predominantly in fetal brain.

Evidence on tissue expression from TISSUES for MPPED2 Gene

  • Nervous system(4.6)
  • Intestine(4.2)
  • Kidney(4.2)
  • Stomach(4.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with MPPED2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MPPED2 Gene

Orthologs for MPPED2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MPPED2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MPPED2 34
  • 100 (a)
(Pan troglodytes)
Mammalia MPPED2 33 34
  • 99.89 (n)
(Monodelphis domestica)
Mammalia MPPED2 34
  • 99 (a)
(Ornithorhynchus anatinus)
Mammalia MPPED2 34
  • 99 (a)
(Canis familiaris)
Mammalia MPPED2 33 34
  • 97.85 (n)
(Mus musculus)
Mammalia Mpped2 33 16 34
  • 95.8 (n)
(Rattus norvegicus)
Mammalia Mpped2 33
  • 95.01 (n)
(Gallus gallus)
Aves MPPED2 33 34
  • 92.29 (n)
(Anolis carolinensis)
Reptilia MPPED2 34
  • 99 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mpped2 33
  • 84.92 (n)
Str.19908 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24531 33
(Danio rerio)
Actinopterygii mpped2 34
  • 89 (a)
mpped2a 33 34
  • 81.18 (n)
wufk34e08 33
fruit fly
(Drosophila melanogaster)
Insecta CG16717 34
  • 44 (a)
(Caenorhabditis elegans)
Secernentea C25E10.12 34
  • 42 (a)
T07D4.2 34
  • 34 (a)
K07C11.7 34
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7905 33
Species where no ortholog for MPPED2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MPPED2 Gene

Gene Tree for MPPED2 (if available)
Gene Tree for MPPED2 (if available)

Paralogs for MPPED2 Gene

Paralogs for MPPED2 Gene

(2) SIMAP similar genes for MPPED2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MPPED2: view

Variants for MPPED2 Gene

Sequence variations from dbSNP and Humsavar for MPPED2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000036617 -- 30,402,018(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000064042 -- 30,526,016(-) T/C intron_variant
rs1000078325 -- 30,464,022(-) A/G intron_variant
rs1000093482 -- 30,567,734(-) C/T intron_variant
rs1000094070 -- 30,463,645(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MPPED2 Gene

Variant ID Type Subtype PubMed ID
esv3428586 CNV insertion 20981092
esv3444153 CNV insertion 20981092
esv3625817 CNV loss 21293372
nsv553947 CNV gain 21841781
nsv825806 CNV loss 20364138
nsv832103 CNV loss 17160897

Variation tolerance for MPPED2 Gene

Residual Variation Intolerance Score: 21.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.56; 12.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPPED2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPPED2 Gene

Disorders for MPPED2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MPPED2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
aniridia 1
  • an1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MPPED2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MPPED2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MPPED2 Gene

Publications for MPPED2 Gene

  1. cDNA sequence, genomic organization, and evolutionary conservation of a novel gene from the WAGR region. (PMID: 8666403) Schwartz F … Bruns G (Genomics 1995) 2 3 4 58
  2. Genome-wide association and functional follow-up reveals new loci for kidney function. (PMID: 22479191) Pattaro C … Fox CS (PLoS genetics 2012) 3 44 58
  3. Genome-wide association scan for childhood caries implicates novel genes. (PMID: 21940522) Shaffer JR … Marazita ML (Journal of dental research 2011) 3 44 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58

Products for MPPED2 Gene

Sources for MPPED2 Gene

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