PHF12 (PHD finger protein 12)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 57649 |
| Gene name | PHD finger protein 12 |
| Gene symbol | PHF12 |
| Synonyms (NCBI Gene) |
PF1
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| Chromosome | 17 |
| Chromosome location | 17q11.2 |
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miRNA
miRNA information provided by mirtarbase database.
352
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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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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Q96QT6 | ||||||||||||||||||||
| Protein name | PHD finger protein 12 (PHD factor 1) (Pf1) | ||||||||||||||||||||
| Protein function | Transcriptional repressor acting as key scaffolding subunit of SIN3 complexes which contributes to complex assembly by contacting each core subunit domain, stabilizes the complex and constitutes the substrate receptor by recruiting the H3 histon | ||||||||||||||||||||
| PDB | 2L9S , 2LKM , 8BPA , 8BPB , 8BPC , 8C60 | ||||||||||||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 1004 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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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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