• Gene id: 55251

Gene Summary

• Gene Symbol: PCMTD2   Gene   UCSC   Ensembl
• Aliases: C20orf36
• Gene name: protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2
• Alternate names: protein-L-isoaspartate O-methyltransferase domain-containing protein 2,
• Gene location: 20q13.33 (64255694: 64276225)     Exons: 6     NC_000020.11
• OMIM: 604138

Protein Summary

• Protein general information: Q9NV79  
  • Name: Protein L isoaspartate O methyltransferase domain containing protein 2
  • Length: 361  
  • Mass: 41072
• Sequence:

  MGGAVSAGEDNDELIDNLKEAQYIRTELVEQAFRAIDRADYYLEEFKENAYKDLAWKHGNIHLSAPCIYSEVMEA
  LDLQPGLSFLNLGSGTGYLSSMVGLILGPFGVNHGVELHSDVIEYAKQKLDFFIRTSDSFDKFDFCEPSFVTGNC
  LEISPDCSQYDRVYCGAGVQKEHEEYMKNLLKVGGILVMPLEEKLTKITRTGPSAWETKKILAVSFAPLIQPCHS
  ESGKSRLVQLPPVAVRSLQDLARIAIRGTIKKIIHQETVSKNGNGLKNTPRFKRRRVRRRRMETIVFLDKEVFAS
  RISNPSDDNSCEDLEEERREEEEKTPPETKPDPPVNFLRQKVLSLPLPDPLKYYLLYYREK

• Structural information:
  • Interpro: IPR000682  IPR029063  
  • STRING: ENSP00000307854
• Other Databases: GeneCards:  PCMTD2  Malacards:  PCMTD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004719	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0004719	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	IEA	molecular function
GO:0006464	cellular protein modification process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006479	protein methylation	IEA	biological process
GO:0006479	protein methylation	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq