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Aliases for PM20D2 Gene

Aliases for PM20D2 Gene

  • Peptidase M20 Domain Containing 2 2 3 5
  • β-Alanyl-Lysine Dipeptidase 2 3
  • Aminoacylase-1-Like Protein 2 3 4
  • Aminoacylase 1-Like 2 2 3
  • ACY1L2 3 4
  • Aminoacylase 1-Like Protein 2 3
  • BA63L7.3 3

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. GO annotations related to this gene include hydrolase activity.

No data available for Entrez Gene 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

Regulatory Elements for PM20D2 Gene

Genomic Location for PM20D2 Gene

Chromosome:
6
Start:
89,096,753 bp from pter
End:
89,165,569 bp from pter
Size:
68,817 bases
Orientation:
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:
    Q8IYS1-P20D2_HUMAN
    Recommended name:
    Peptidase M20 domain-containing protein 2
    Protein Accession:
    Q8IYS1
    Secondary Accessions:
    • B4DYJ2
    • Q5T7J9
    • Q6MZV2
    • Q86XD9

    Protein attributes for PM20D2 Gene

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

neXtProt entry for PM20D2 Gene

Proteomics data for PM20D2 Gene at MOPED

Post-translational modifications for PM20D2 Gene

  • Ubiquitination at Lys 24 and Lys 321
  • Modification sites at PhosphoSitePlus

Other Protein References for PM20D2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PM20D2 Gene

Domains & Families for PM20D2 Gene

Protein Domains for PM20D2 Gene

Suggested Antigen Peptide Sequences for PM20D2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IYS1

UniProtKB/Swiss-Prot:

P20D2_HUMAN :
  • Belongs to the peptidase M20A family.
Family:
  • Belongs to the peptidase M20A family.
genes like me logo Genes that share domains with PM20D2: view

No data available for Gene Families for PM20D2 Gene

Function for PM20D2 Gene

Animal Model Products

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

Localization for PM20D2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PM20D2 Gene COMPARTMENTS Subcellular localization image for PM20D2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PM20D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome 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

Interacting Proteins for PM20D2 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000275072%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000385269%0d%0a9606.ENSP00000254108%0d%0a9606.ENSP00000250495%0d%0a
Selected Interacting proteins: ENSP00000275072 for PM20D2 Gene via STRING

Gene Ontology (GO) - Biological Process for PM20D2 Gene

None

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:

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

No ASD Table

Relevant External Links for PM20D2 Gene

GeneLoc Exon Structure for
PM20D2
ECgene alternative splicing isoforms for
PM20D2

Expression for PM20D2 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for PM20D2 Gene



SOURCE GeneReport for Unigene cluster for PM20D2 Gene Hs.356247

genes like me logo Genes that share expression patterns with PM20D2: view

Protein tissue co-expression partners for PM20D2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia PM20D2 35
  • 89.64 (n)
  • 88.32 (a)
PM20D2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PM20D2 35
  • 90.15 (n)
  • 88.68 (a)
PM20D2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pm20d2 35
  • 81.85 (n)
  • 82.24 (a)
Pm20d2 16
Pm20d2 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PM20D2 35
  • 99.62 (n)
  • 99.77 (a)
PM20D2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pm20d2 35
  • 81.15 (n)
  • 82.48 (a)
oppossum
(Monodelphis domestica)
Mammalia PM20D2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PM20D2 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves PM20D2 35
  • 75.51 (n)
  • 76.64 (a)
PM20D2 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PM20D2 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pm20d2 35
  • 70.33 (n)
  • 71.6 (a)
Str.14998 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9866 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08886 35
  • 47.73 (n)
  • 40.05 (a)
Species with no ortholog for PM20D2:
  • 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

ENSEMBL:
Gene Tree for PM20D2 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs10944433 - 89,158,409(+) GAAGA(A/G)AGCTA reference, missense, utr-variant-3-prime
rs387177 -- 89,122,360(-) AGAAA(C/T)AGTGA intron-variant
rs424754 -- 89,126,065(-) tctgt(C/T)gcccc intron-variant
rs396515 -- 89,164,132(+) CCTTT(G/T)TAATT utr-variant-3-prime
rs430804 -- 89,158,120(+) ATATA(A/G)CATAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv886337 CNV Loss 21882294

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)

Relevant External Links for PM20D2 Gene

HapMap Linkage Disequilibrium report
PM20D2

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

Disorders for PM20D2 Gene

Relevant External Links for PM20D2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 I^-alanyl-lysine dipeptidase. (PMID: 24891507) Veiga-da-Cunha M. … Van Schaftingen E. (J. Biol. Chem. 2014) 2 3 67
  2. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T. … Xu J. (Neurobiol. Aging 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin S.Y. … Soranzo N. (Nat. Genet. 2014) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for PM20D2 Gene

Sources for PM20D2 Gene

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