Gene Gene information from NCBI Gene database.
Entrez ID 84295
Gene name PHD finger protein 6
Gene symbol PHF6
Synonyms (NCBI Gene)
BFLSBORJCENP-31
Chromosome X
Chromosome location Xq26.2
Summary 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
SNPs SNP information provided by dbSNP.
27
SNP ID Visualize variation Clinical significance Consequence
rs104894917 A>G Pathogenic Coding sequence variant, missense variant
rs104894918 A>G Pathogenic Coding sequence variant, missense variant
rs104894919 A>G Pathogenic Coding sequence variant, missense variant
rs112199174 C>T Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, synonymous variant, genic downstream transcript variant
rs132630297 C>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
471
miRTarBase ID miRNA Experiments Reference
MIRT020833 hsa-miR-155-5p Proteomics 18668040
MIRT022787 hsa-miR-124-3p Proteomics 18668037
MIRT024322 hsa-miR-215-5p Microarray 19074876
MIRT026628 hsa-miR-192-5p Microarray 19074876
MIRT052389 hsa-let-7a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 24554700
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IEA
GO:0001835 Process Blastocyst hatching IEA
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300414 18145 ENSG00000156531
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWS0
Protein name PHD finger protein 6 (PHD-like zinc finger protein)
Protein function Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.
PDB 4NN2 , 4R7A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13771 zf-HC5HC2H 42 132 Domain
PF13771 zf-HC5HC2H 239 330 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12415272}.
Sequence
MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNE
SLGGFSIEDVQKEIKRGTKLMCSLCHCPGATIGCDVKTCHRTYHYHCALHDKAQIREKPS
QGIYMVYCRKHK
KTAHNSEADLEESFNEHELEPSSPKSKKKSRKGRPRKTNFKGLSEDTR
STSSHGTDEMESSSYRDRSPHRSSPSDTRPKCGFCHVGEEENEARGKLHIFNAKKAAAHY
KCMLFSSGTVQLTTTSRAEFGDFDIKTVLQEIKRGKRMKCTLCSQPGATIGCEIKACVKT
YHYHCGVQDKAKYIENMSRGIYKLYCKNHS
GNDERDEEDEERESKSRGKVEIDQQQLTQQ
QLNGN
Sequence length 365
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  ATP-dependent chromatin remodeling  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
163
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Borjeson-Forssman-Lehmann syndrome Pathogenic; Likely pathogenic rs770811341, rs2124252847, rs587777489, rs2520644434, rs864309532, rs2520543281, rs1114167289, rs2520470317, rs2077467203, rs132630297, rs132630298, rs104894917, rs132630299, rs104894918, rs132630300
View all (16 more)
RCV001775393
RCV001782610
RCV000128447
RCV002291089
RCV000202613
RCV003135658
RCV000491322
RCV003228888
RCV003228889
RCV000011812
RCV000011813
RCV000011814
RCV000011815
RCV000011816
RCV000011817
RCV000011818
RCV000011819
RCV000011820
RCV000011821
RCV003512707
RCV003622070
RCV003887833
RCV004018047
RCV004578013
RCV000677243
RCV000578312
RCV002531897
RCV000761327
RCV001049548
RCV001253361
RCV001262915
Hereditary spastic paraplegia 4 Pathogenic rs132630300 RCV002286694
Hirsutism Pathogenic rs758791658 RCV001261281
Intellectual disability Pathogenic; Likely pathogenic rs132630297, rs2077504269, rs758791658 RCV005251034
RCV001257662
RCV001261281
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Uncertain significance rs2520627669 RCV003764447
Gastric cancer Conflicting classifications of pathogenicity rs188961105 RCV005889190
Global developmental delay Uncertain significance rs2124261565 RCV001527619
Neuroblastoma other rs1556013242 RCV000505651
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 34209408, 34375027, 34838590
Astigmatism Associate 36999477
Ataxia Telangiectasia Associate 27602765
Borjeson Forssman Lehmann syndrome Associate 15994862, 20806366, 23229552, 25601084, 27165002, 30551478, 30630810, 31782600, 33149206, 35662002, 36999477, 37704779
Coffin Siris syndrome Associate 23906836, 27165002, 36369738
Cognitive Dysfunction Associate 33149206
Colorectal Neoplasms Associate 28675510
Death Associate 33779075
Developmental Disabilities Associate 30630810
Endometrial Neoplasms Associate 34859848