PHF6

GENERAL INFORMATION

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Gene name

PHF6

Gene description

PHD finger protein 6

Protein class

Cancer-related genes
Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous nuclear expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA001023
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000332070
 
ENST00000370799
 
ENST00000370800
 
ENST00000370803
 
 
 
 


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
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Show » Show » 365 41.3 No 0
PHF6-002 ENSP00000359835
ENST00000370799
Q5JRC6
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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