PHF6

GENE INFORMATION

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Gene name

PHF6 (HGNC Symbol)

Synonyms

BFLS, BORJ, CENP-31, KIAA1823, MGC14797

Description

PHD finger protein 6 (HGNC Symbol)

Entrez gene 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 coding region of this gene or the splicing of the transcript have been associated with Borjeson-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 splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]

Chromosome

X

Cytoband

q26.2

Chromosome location (bp)

134373253 - 134428790

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000156531 (version 78.38)

Entrez gene

84295

UniProt

Q8IWS0 (UniProt - Evidence at protein level)

neXtProt

NX_Q8IWS0

Antibodypedia

PHF6 antibodies
 

PROTEIN VIEW

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PHF6-001
 
PHF6-002
 
PHF6-003
 
PHF6-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PHF6-001 ENSP00000359839
ENST00000370803
Q8IWS0
Show all »
Show » Show » 365 41.3 No 0
PHF6-002 ENSP00000359835
ENST00000370799
Q5JRC6
Show all »
Show » Show » 324 36.4 No 0
PHF6-003 ENSP00000359836
ENST00000370800
Q8IWS0
Show all »
Show » Show » 312 35.3 No 0
PHF6-004 ENSP00000329097
ENST00000332070
Q8IWS0
Show all »
Show » Show » 365 41.3 No 0