PHF6

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PHF6
4nn2.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPHF6, BFLS, BORJ, CENP-31, PHD finger protein 6
External IDsMGI: 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
BandXq26.2Start134,373,253 bp[1]
End134,428,791 bp[1]
RNA expression pattern
PBB GE PHF6 gnf1h00721 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032458
NM_001015877
NM_032335

NM_001290546
NM_027642

RefSeq (protein)

NP_001015877
NP_115711
NP_115834

NP_001277475
NP_081918

Location (UCSC)Chr X: 134.37 – 134.43 MbChr X: 52.91 – 52.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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 Börjeson-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]

References[edit]

  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[edit]

External links[edit]

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