PHF6

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

PHF6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4NN2, 4R7A
Identifiers
Aliases	PHF6, BFLS, BORJ, CENP-31, PHD finger protein 6
External IDs	OMIM: 300414; MGI: 1918248; HomoloGene: 12375; GeneCards: PHF6; OMA:PHF6 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq26.2 Start 134,373,288 bp[1] End 134,428,791 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A5 Start 52,001,143 bp[2] End 52,045,820 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis oocyte endothelial cell germinal epithelium secondary oocyte ganglionic eminence pancreatic epithelial cell palpebral conjunctiva epithelium of nasopharynx Brodmann area 23 Top expressed in hand superior cervical ganglion ventricular zone genital tubercle tail of embryo medial ganglionic eminence zygote epiblast maxillary prominence trigeminal ganglion More reference expression data BioGPS More reference expression data
Gene ontology Molecular function tubulin binding enzyme binding scaffold protein binding DNA binding ribonucleoprotein complex binding histone binding phosphoprotein binding histone deacetylase binding protein binding metal ion binding RNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific sequence-specific DNA binding Cellular component nucleolus chromosome, centromeric region nucleus kinetochore nucleoplasm chromosome Biological process regulation of transcription, DNA-templated transcription, DNA-templated negative regulation of transcription by RNA polymerase II blastocyst hatching Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84295 70998 Ensembl ENSG00000156531 ENSMUSG00000025626 UniProt Q8IWS0 Q9D4J7 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 Mb Chr X: 52 – 52.05 Mb PubMed search [3] [4]
Wikidata
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This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two atypical PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus.^[6]

Mutations

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]

The PHF6 gene in humans is also frequently mutated in human hematological malignancies, including T-cell acute lymphoblastic Leukemia (T-ALL)^[7] and Acute Myeloid Leukemia (AML)^[8] and at least two BFLS patients have developed leukemia or lymphoma.^[9] PHF6 has been shown to be important for the regulation of blood stem and progenitor cells^{[10][11][12][13]} and loss of PHF6 protein synergizes with over-expression of the TLX3 protein to cause lymphoid neoplasms.^[11]