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Gene: PHF6 (PHD finger protein 6) Homo sapiens
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Symbol: PHF6
Name: PHD finger protein 6
Description: Exhibits several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; histone deacetylase binding activity; and scaffold protein binding activity. Involved in negative regulation of transcription by RNA polymerase II. Localizes to the nucleolus and nucleoplasm. Implicated in Borjeson-Forssman-Lehmann syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BFLS; BORJ; Borjeson-Forssman-Lehmann syndrome; CENP-31; centromere protein 31; MGC14797; PHD-like zinc finger protein
Orthologs:
Mus musculus (house mouse) : Phf6 (PHD finger protein 6)  MGI  Alliance
Rattus norvegicus (Norway rat) : Phf6 (PHD finger protein 6)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Phf6 (PHD finger protein 6)
Pan paniscus (bonobo/pygmy chimpanzee) : PHF6 (PHD finger protein 6)
Canis lupus familiaris (dog) : PHF6 (PHD finger protein 6)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Phf6 (PHD finger protein 6)
Sus scrofa (pig) : PHF6 (PHD finger protein 6)
Chlorocebus sabaeus (African green monkey) : PHF6 (PHD finger protein 6)
Heterocephalus glaber (naked mole-rat) : Phf6 (PHD finger protein 6)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 EnsemblX134,373,253 - 134,428,791 (+)Ensembl
GRCh38X134,373,312 - 134,428,790 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X133,507,324 - 133,562,822 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X133,335,008 - 133,390,488 (+)NCBINCBI36hg18NCBI36
Build 34X133,232,861 - 133,288,339NCBI
CeleraX133,894,183 - 133,949,652 (+)NCBI
Cytogenetic MapXq26.2NCBI
HuRefX122,905,958 - 122,961,468 (+)NCBIHuRef
CHM1_1X133,419,127 - 133,474,595 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on PHF6
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1354174
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.