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Aliases for PCMTD2 Gene

Aliases for PCMTD2 Gene

  • Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase Domain Containing 2 2 3 5
  • C20orf36 3 4
  • Protein-L-Isoaspartate O-Methyltransferase Domain-Containing Protein 2 3
  • Chromosome 20 Open Reading Frame 36 2

External Ids for PCMTD2 Gene

Previous HGNC Symbols for PCMTD2 Gene

  • C20orf36

Previous GeneCards Identifiers for PCMTD2 Gene

  • GC20P062358
  • GC20P062887
  • GC20P059616

Summaries for PCMTD2 Gene

GeneCards Summary for PCMTD2 Gene

PCMTD2 (Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase Domain Containing 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein-L-isoaspartate (D-aspartate) O-methyltransferase activity. An important paralog of this gene is PCMTD1.

Additional gene information for PCMTD2 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 PCMTD2 Gene

Genomics for PCMTD2 Gene

GeneHancer (GH) Regulatory Elements for PCMTD2 Gene

Promoters and enhancers for PCMTD2 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
GH20I064254 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 568.2 +0.3 284 2.2 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ZNF207 ZNF143 PCMTD2 GMEB2 CICP4 PRPF6 RTEL1 ARFRP1 SAMD10 GC20P064253 ENSG00000278171
GH20I063845 Enhancer 1.5 Ensembl ENCODE dbSUPER 43.9 -408.4 -408369 3.3 HDGF PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A YBX1 FEZF1 DMAP1 C20orf181 MIR647 DIDO1 UCKL1 PCMTD2 TNFRSF6B ZNF512B RTEL1 YTHDF1 ENSG00000237371
GH20I064220 Enhancer 1.4 Ensembl ENCODE dbSUPER 18.3 -32.7 -32701 5.7 PKNOX1 ARNT ARID4B ZNF766 ZNF143 FOS SP5 REST ZNF592 KAT8 PCMTD2 MYT1 LINC00266-1 MIR647 GC20M064230 GC20P064163 GC20P064162
GH20I063726 Enhancer 1.4 Ensembl ENCODE dbSUPER 16.7 -526.4 -526384 5.4 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 IRF4 SLC30A9 ZNF143 ZNF207 ENSG00000274501 DIDO1 LIME1 PCMTD2 MIR647 RTEL1 UCKL1 ENSG00000237371 ARFRP1 GMEB2
GH20I063657 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.5 -597.3 -597260 2.7 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC RTEL1 STMN3 RTEL1-TNFRSF6B DIDO1 MIR647 GMEB2 UCKL1 CICP4 TCEA2 MRGBP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PCMTD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCMTD2 gene promoter:

Genomic Locations for PCMTD2 Gene

Genomic Locations for PCMTD2 Gene
32,127 bases
Plus strand

Genomic View for PCMTD2 Gene

Genes around PCMTD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCMTD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCMTD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCMTD2 Gene

Proteins for PCMTD2 Gene

  • Protein details for PCMTD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein-L-isoaspartate O-methyltransferase domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • E1P5H3
    • Q8IW60
    • Q9H4K2

    Protein attributes for PCMTD2 Gene

    361 amino acids
    Molecular mass:
    41072 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCMTD2 Gene


neXtProt entry for PCMTD2 Gene

Post-translational modifications for PCMTD2 Gene

  • Ubiquitination at Lys295
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PCMTD2 Gene

Domains & Families for PCMTD2 Gene

Gene Families for PCMTD2 Gene

Protein Domains for PCMTD2 Gene

Suggested Antigen Peptide Sequences for PCMTD2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the methyltransferase superfamily. L-isoaspartyl/D-aspartyl protein methyltransferase family.
  • Belongs to the methyltransferase superfamily. L-isoaspartyl/D-aspartyl protein methyltransferase family.
genes like me logo Genes that share domains with PCMTD2: view

Function for PCMTD2 Gene

Phenotypes From GWAS Catalog for PCMTD2 Gene

Gene Ontology (GO) - Molecular Function for PCMTD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004719 protein-L-isoaspartate (D-aspartate) O-methyltransferase activity IBA --
genes like me logo Genes that share ontologies with PCMTD2: view
genes like me logo Genes that share phenotypes with PCMTD2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PCMTD2

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCMTD2 Gene

Localization for PCMTD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCMTD2 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 PCMTD2 gene
Compartment Confidence
nucleus 3
cytosol 3
mitochondrion 2

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PCMTD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with PCMTD2: view

Pathways & Interactions for PCMTD2 Gene

SuperPathways for PCMTD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCMTD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process IEA --
GO:0006479 protein methylation IEA --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with PCMTD2: view

No data available for Pathways by source and SIGNOR curated interactions for PCMTD2 Gene

Drugs & Compounds for PCMTD2 Gene

No Compound Related Data Available

Transcripts for PCMTD2 Gene

Unigene Clusters for PCMTD2 Gene

Protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCMTD2 Gene

No ASD Table

Relevant External Links for PCMTD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PCMTD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCMTD2 Gene

Protein differential expression in normal tissues from HIPED for PCMTD2 Gene

This gene is overexpressed in Plasma (51.4) and Retina (15.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCMTD2 Gene

Protein tissue co-expression partners for PCMTD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCMTD2 Gene:


SOURCE GeneReport for Unigene cluster for PCMTD2 Gene:


Evidence on tissue expression from TISSUES for PCMTD2 Gene

  • Nervous system(4.8)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with PCMTD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCMTD2 Gene

Orthologs for PCMTD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PCMTD2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PCMTD2 33 34
  • 99.82 (n)
(Bos Taurus)
Mammalia PCMTD2 34
  • 95 (a)
LOC505807 33
  • 86.7 (n)
(Monodelphis domestica)
Mammalia PCMTD2 34
  • 94 (a)
(Ornithorhynchus anatinus)
Mammalia PCMTD2 34
  • 91 (a)
(Canis familiaris)
Mammalia PCMTD2 33 34
  • 87.13 (n)
(Rattus norvegicus)
Mammalia Pcmtd2 33
  • 84.96 (n)
(Mus musculus)
Mammalia Pcmtd2 33 16 34
  • 84.49 (n)
(Gallus gallus)
Aves PCMTD2 33 34
  • 81.26 (n)
(Anolis carolinensis)
Reptilia PCMTD2 34
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pcmtd2 33
  • 67.87 (n)
Str.2977 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53341 33
(Danio rerio)
Actinopterygii LOC100536777 33
  • 73.23 (n)
pcmtd2 34
  • 66 (a)
PCMTD2 (2 of 2) 34
  • 63 (a)
(Caenorhabditis elegans)
Secernentea CELE_R119.5 33
  • 42.64 (n)
R119.5 34
  • 12 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
Species where no ortholog for PCMTD2 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)
  • 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)
  • 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 PCMTD2 Gene

Gene Tree for PCMTD2 (if available)
Gene Tree for PCMTD2 (if available)

Paralogs for PCMTD2 Gene

Paralogs for PCMTD2 Gene

genes like me logo Genes that share paralogs with PCMTD2: view

Variants for PCMTD2 Gene

Sequence variations from dbSNP and Humsavar for PCMTD2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000131539 -- 64,259,288(+) A/G intron_variant
rs1000250389 -- 64,275,419(+) T/C 3_prime_UTR_variant
rs1000374213 -- 64,263,685(+) G/C intron_variant
rs1000382586 -- 64,253,933(+) G/A upstream_transcript_variant
rs1000400020 -- 64,263,439(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PCMTD2 Gene

Variant ID Type Subtype PubMed ID
dgv4347n100 CNV gain 25217958
dgv4348n100 CNV gain 25217958
esv1549221 CNV deletion 17803354
esv1694737 CNV deletion 17803354
esv2447590 CNV deletion 19546169
esv2758807 CNV gain+loss 17122850
esv3646335 CNV gain 21293372
esv3646339 CNV gain 21293372
esv3646340 CNV gain 21293372
esv3646341 CNV gain 21293372
nsv1055633 CNV gain 25217958
nsv1064470 CNV gain 25217958
nsv1067529 CNV gain 25217958
nsv428381 CNV gain+loss 18775914
nsv9834 CNV gain 18304495

Variation tolerance for PCMTD2 Gene

Residual Variation Intolerance Score: 37.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCMTD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCMTD2 Gene

Disorders for PCMTD2 Gene

Additional Disease Information for PCMTD2

No disorders were found for PCMTD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCMTD2 Gene

Publications for PCMTD2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 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 PCMTD2 Gene

Sources for PCMTD2 Gene

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