PCMTD2 (protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 55251 |
| Gene name | Protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 |
| Gene symbol | PCMTD2 |
| Synonyms (NCBI Gene) |
C20orf36
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| Chromosome | 20 |
| Chromosome location | 20q13.33 |
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miRNA
miRNA information provided by mirtarbase database.
619
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Sequence |
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| Sequence length | 361 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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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)
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