PHF20L1 (PHD finger protein 20 like 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 51105 |
| Gene name | PHD finger protein 20 like 1 |
| Gene symbol | PHF20L1 |
| Synonyms (NCBI Gene) |
CGI-72TDRD20BURLC1
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| Chromosome | 8 |
| Chromosome location | 8q24.22 |
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miRNA
miRNA information provided by mirtarbase database.
324
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
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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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A8MW92 | |||||||||||||||||||||||||
| Protein name | PHD finger protein 20-like protein 1 | |||||||||||||||||||||||||
| Protein function | Is a negative regulator of proteasomal degradation of a set of methylated proteins, including DNMT1 and SOX2 (PubMed:24492612, PubMed:29358331). Involved in the maintainance of embryonic stem cells pluripotency, through the regulation of SOX2 le | |||||||||||||||||||||||||
| PDB | 2EQM , 2EQU , 2JTF , 6L0X , 6L10 , 6L1C , 6L1F , 6L1I , 6L1P | |||||||||||||||||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 1017 | |||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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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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