Tbio PHF6 PHD finger protein 6

Protein Summary

Description

Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription. This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]

Uniprot Accession IDs

• Q8IWS0
• A8K230
• B4E0G4
• D3DTG3
• E9PC97
• Q5JRC7
• Q5JRC8
• Q96JK3
• Q9BRU0

Gene Name

• PHF6

Ensembl ID

• ENST00000332070
• ENSP00000329097
• ENSG00000156531
• ENST00000370800
• ENSP00000359836
• ENST00000370803
• ENSP00000359839

Symbol

• CENP-31
• KIAA1823
• BFLS
• BORJ
• CENP-31

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
ligand (protein) perturbation	0.83
microRNA	0.79
molecular function	0.79
cellular component	0.7
transcription factor	0.69

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Phd Finger Protein 6

DTO Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Phd Finger Protein 6

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 166.21   (req: < 5)

Gene RIFs: 52   (req: <= 3)

Antibodies: 190   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 166.21   (req: >= 5)

Gene RIFs: 52   (req: > 3)

Antibodies: 190   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0