Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84295
Gene name Gene Name - the full gene name approved by the HGNC.
PHD finger protein 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PHF6
Synonyms (NCBI Gene) Gene synonyms aliases
BFLS, BORJ, CENP-31
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq26.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300414 18145 ENSG00000156531
Protein
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Borjeson-Forssman-Lehmann Syndrome borjeson-forssman-lehmann syndrome rs132630297, rs758791658, rs587777489, rs132630298, rs864309532, rs104894917, rs1114167289, rs132630299, rs1556018932, rs104894918, rs1556013203, rs132630300, rs1556019107, rs1569334260, rs104894919
View all (3 more)
N/A
Hereditary spastic paraplegia Hereditary spastic paraplegia 4 rs132630300 N/A
Mental retardation intellectual disability rs132630297 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cleft Lip With Or Without Cleft Palate Cleft lip with or without cleft palate N/A N/A GWAS
Neuroblastoma neuroblastoma N/A N/A ClinVar
Neuroticism Neuroticism N/A N/A GWAS
Associations from Text Mining Disease 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