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Aliases for PM20D2 Gene

Aliases for PM20D2 Gene

  • Peptidase M20 Domain Containing 2 2 3 5
  • Aminoacylase-1-Like Protein 2 3 4
  • ACY1L2 3 4
  • Peptidase M20 Domain-Containing Protein 2 3
  • β-Alanyl-Lysine Dipeptidase 2
  • Aminoacylase 1-Like 2 2

External Ids for PM20D2 Gene

Previous HGNC Symbols for PM20D2 Gene

  • ACY1L2

Previous GeneCards Identifiers for PM20D2 Gene

  • GC06P089912
  • GC06P087071

Summaries for PM20D2 Gene

GeneCards Summary for PM20D2 Gene

PM20D2 (Peptidase M20 Domain Containing 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include hydrolase activity.

Additional gene information for PM20D2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PM20D2 Gene

Genomics for PM20D2 Gene

GeneHancer (GH) Regulatory Elements for PM20D2 Gene

Promoters and enhancers for PM20D2 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
GH06I089145 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.2 +49.7 49740 2.8 PKNOX1 SMAD1 ARNT ZFP64 SIN3A DMAP1 ZNF48 SLC30A9 ZNF121 GLIS2 LOC101929004 PM20D2 SRSF12 GABRR2 ANKRD6
GH06I089078 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 11.5 -15.4 -15378 5.7 FEZF1 DMAP1 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D SSRP1 ZNF610 ENSG00000271931 PNRC1 SRSF12 CASP8AP2 PM20D2 UBE2J1 GC06P089091
GH06I089117 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 11.7 +21.0 21048 1.2 CTCF MXI1 ZIC2 ZNF48 ZNF335 ZNF121 FOXM1 GLIS2 POLR2A PATZ1 SRSF12 CASP8AP2 PM20D2 RNGTT GABRR1
GH06I089354 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 14.5 +260.7 260742 5.1 HDGF PKNOX1 MZF1 IRF4 YY1 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 PM20D2 RRAGD GABRR2 RNGTT UBE2J1 GC06M089406 GC06M089255 GC06M089256
GH06I089409 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10.1 +314.9 314864 3.9 PKNOX1 SIN3A FEZF1 ZNF121 GLIS2 ZNF207 SP3 REST SREBF1 GLIS1 RRAGD CASP8AP2 LYRM2 MDN1 ANKRD6 PM20D2 SRSF12 ENSG00000237027 GC06M089406 GC06M089256
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PM20D2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PM20D2 gene promoter:

Genomic Locations for PM20D2 Gene

Genomic Locations for PM20D2 Gene
68,817 bases
Plus strand

Genomic View for PM20D2 Gene

Genes around PM20D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PM20D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PM20D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PM20D2 Gene

Proteins for PM20D2 Gene

  • Protein details for PM20D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Peptidase M20 domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • B4DYJ2
    • Q5T7J9
    • Q6MZV2
    • Q86XD9

    Protein attributes for PM20D2 Gene

    436 amino acids
    Molecular mass:
    47776 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PM20D2 Gene

Post-translational modifications for PM20D2 Gene

  • Ubiquitination at isoforms=24 and isoforms=321
  • Modification sites at PhosphoSitePlus

Other Protein References for PM20D2 Gene

No data available for DME Specific Peptides for PM20D2 Gene

Domains & Families for PM20D2 Gene

Gene Families for PM20D2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PM20D2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase M20A family.
  • Belongs to the peptidase M20A family.
genes like me logo Genes that share domains with PM20D2: view

Function for PM20D2 Gene

Phenotypes From GWAS Catalog for PM20D2 Gene

Gene Ontology (GO) - Molecular Function for PM20D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0016805 dipeptidase activity IDA,IEA 24891507
genes like me logo Genes that share ontologies with PM20D2: view

Phenotypes for PM20D2 Gene

GenomeRNAi human phenotypes for PM20D2:
genes like me logo Genes that share phenotypes with PM20D2: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PM20D2 Gene

Localization for PM20D2 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 PM20D2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PM20D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0070062 extracellular exosome HDA,IDA 23376485
genes like me logo Genes that share ontologies with PM20D2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PM20D2 Gene

Pathways & Interactions for PM20D2 Gene

SuperPathways for PM20D2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PM20D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA,IEA 24891507
GO:0008152 metabolic process IEA --
GO:0032268 regulation of cellular protein metabolic process IDA,IEA 24891507
genes like me logo Genes that share ontologies with PM20D2: view

No data available for Pathways by source and SIGNOR curated interactions for PM20D2 Gene

Drugs & Compounds for PM20D2 Gene

No Compound Related Data Available

Transcripts for PM20D2 Gene

Unigene Clusters for PM20D2 Gene

Peptidase M20 domain containing 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PM20D2 Gene

No ASD Table

Relevant External Links for PM20D2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PM20D2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PM20D2 Gene

mRNA differential expression in normal tissues according to GTEx for PM20D2 Gene

This gene is overexpressed in Muscle - Skeletal (x4.3).

Protein differential expression in normal tissues from HIPED for PM20D2 Gene

This gene is overexpressed in Ovary (19.5), Pancreas (9.4), and Islet of Langerhans (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PM20D2 Gene

Protein tissue co-expression partners for PM20D2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PM20D2 Gene:


SOURCE GeneReport for Unigene cluster for PM20D2 Gene:


Evidence on tissue expression from TISSUES for PM20D2 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with PM20D2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PM20D2 Gene

Orthologs for PM20D2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PM20D2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PM20D2 33 34
  • 99.62 (n)
(Canis familiaris)
Mammalia PM20D2 33 34
  • 90.15 (n)
(Bos Taurus)
Mammalia PM20D2 33 34
  • 89.64 (n)
(Ornithorhynchus anatinus)
Mammalia PM20D2 34
  • 83 (a)
(Mus musculus)
Mammalia Pm20d2 33 16 34
  • 81.85 (n)
(Rattus norvegicus)
Mammalia Pm20d2 33
  • 81.15 (n)
(Monodelphis domestica)
Mammalia PM20D2 34
  • 79 (a)
(Gallus gallus)
Aves PM20D2 33 34
  • 75.51 (n)
(Anolis carolinensis)
Reptilia PM20D2 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pm20d2 33
  • 70.33 (n)
Str.14998 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9866 33
bread mold
(Neurospora crassa)
Ascomycetes NCU08886 33
  • 47.73 (n)
Species where no ortholog for PM20D2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PM20D2 Gene

Gene Tree for PM20D2 (if available)
Gene Tree for PM20D2 (if available)

Paralogs for PM20D2 Gene

No data available for Paralogs for PM20D2 Gene

Variants for PM20D2 Gene

Sequence variations from dbSNP and Humsavar for PM20D2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000001820 -- 89,141,424(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000024219 -- 89,137,736(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000106183 -- 89,115,385(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000108810 -- 89,152,570(+) C/A intron_variant
rs1000178375 -- 89,123,214(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PM20D2 Gene

Variant ID Type Subtype PubMed ID
nsv1023532 CNV loss 25217958
nsv1027007 CNV gain 25217958
nsv1114852 CNV deletion 24896259

Variation tolerance for PM20D2 Gene

Residual Variation Intolerance Score: 80.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.13; 51.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PM20D2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PM20D2 Gene

Disorders for PM20D2 Gene

Additional Disease Information for PM20D2

No disorders were found for PM20D2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PM20D2 Gene

Publications for PM20D2 Gene

  1. Metabolite proofreading in carnosine and homocarnosine synthesis: molecular identification of PM20D2 as β-alanyl-lysine dipeptidase. (PMID: 24891507) Veiga-da-Cunha M … Van Schaftingen E (The Journal of biological chemistry 2014) 2 3 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for PM20D2 Gene

Sources for PM20D2 Gene

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