Gene Gene information from NCBI Gene database.
Entrez ID 55251
Gene name Protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2
Gene symbol PCMTD2
Synonyms (NCBI Gene)
C20orf36
Chromosome 20
Chromosome location 20q13.33
miRNA miRNA information provided by mirtarbase database.
619
miRTarBase ID miRNA Experiments Reference
MIRT021615 hsa-miR-142-3p Microarray 17612493
MIRT023481 hsa-miR-23b-3p Sequencing 20371350
MIRT641979 hsa-miR-548ac HITS-CLIP 23824327
MIRT641978 hsa-miR-548bb-3p HITS-CLIP 23824327
MIRT641977 hsa-miR-548d-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0004719 Function Protein-L-isoaspartate (D-aspartate) O-methyltransferase activity IBA
GO:0004719 Function Protein-L-isoaspartate (D-aspartate) O-methyltransferase activity IEA
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620077 15882 ENSG00000203880
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NV79
Protein name Protein-L-isoaspartate O-methyltransferase domain-containing protein 2
Protein function May act as a substrate recognition component of an ECS (Elongin BC-CUL5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. May bind to the methyltransferase
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01135 PCMT 9 223 Family
Sequence
MGGAVSAGEDNDELIDNLKEAQYIRTELVEQAFRAIDRADYYLEEFKENAYKDLAWKHGN
IHLSAPCIYSEVMEALDLQPGLSFLNLGSGTGYLSSMVGLILGPFGVNHGVELHSDVIEY
AKQKLDFFIRTSDSFDKFDFCEPSFVTGNCLEISPDCSQYDRVYCGAGVQKEHEEYMKNL
LKVGGILVMPLEEKLTKITRTGPSAWETKKILAVSFAPLIQPC
HSESGKSRLVQLPPVAV
RSLQDLARIAIRGTIKKIIHQETVSKNGNGLKNTPRFKRRRVRRRRMETIVFLDKEVFAS
RISNPSDDNSCEDLEEERREEEEKTPPETKPDPPVNFLRQKVLSLPLPDPLKYYLLYYRE
K
Sequence length 361
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations