4NN2, 4R7A

Identifiers Aliases PHF6, BFLS, BORJ, CENP-31, PHD finger protein 6 External IDs MGI: 1918248 HomoloGene: 12375 GeneCards: PHF6
Gene location (Human)
X chromosome (human)
Chr. X chromosome (human)[1]
X chromosome (human)
Genomic location for PHF6
Genomic location for PHF6
Band Xq26.2 Start 134,373,253 bp[1]
End 134,428,791 bp[1]
RNA expression pattern
PBB GE PHF6 gnf1h00721 at fs.png
More reference expression data
Orthologs Species Human Mouse Entrez
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC) Chr X: 134.37 – 134.43 Mb Chr X: 52.91 – 52.96 Mb PubMed search [3] [4] Wikidata
View/Edit Human View/Edit Mouse

PHD finger protein 6 is a protein that in humans is encoded by the PHF6 gene.[5][6]

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 mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[6]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000156531 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025626 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gecz J (Nov 2002). "Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome". Nat Genet. 32 (4): 661–665. doi:10.1038/ng1040. PMID 12415272. 
  6. ^ a b "Entrez Gene: PHF6 PHD finger protein 6". 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.