PHF6

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]

Description

PHD finger protein 6

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nucleoli

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (134373312 - 134428791)

Ensembl ID

ENSG00000156531  (ver. 103.38)

Orthologs

Mouse Phf6: ENSMUSG00000025626

UniProt

Q8IWS0

neXtProt

NX_Q8IWS0

Human splice variants
Mouse splice variants

Protein structure