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Gene: PHF6 (PHD finger protein 6) Homo sapiens
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Symbol: PHF6
Name: PHD finger protein 6
Description: 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 Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]
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)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X134,373,312 - 134,428,792 (+)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

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

CRRD Object Information
CRRD ID: 1354174
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-08-06
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.