Tissue expression of PHF6 - Summary - The Human Protein Atlas

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PHF6

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TISSUE

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CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
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	5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Ubiquitous nuclear expression.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Supported based on 1 antibody. HPA001023
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
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 - 134428791
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000156531 (version 83.38)
Entrez gene	84295
UniProt	Q8IWS0 (UniProt - Evidence at protein level)
neXtProt	NX_Q8IWS0
Antibodypedia	PHF6 antibodies

PROTEIN BROWSER

PHF6-001	PHF6-002	PHF6-003	PHF6-004	PHF6-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PHF6-001 ENSP00000359839 ENST00000370803	Q8IWS0 [Direct mapping] PHD finger protein 6 Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000777 [condensed chromosome kinetochore] GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005730 [nucleolus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0015631 [tubulin binding] GO:0019899 [enzyme binding] GO:0042393 [histone binding] GO:0042826 [histone deacetylase binding] GO:0043021 [ribonucleoprotein complex binding] GO:0044822 [poly(A) RNA binding] GO:0051219 [phosphoprotein binding] GO:0097110 [scaffold protein binding] Show all	365 aa 41.3 kDa	No	0
PHF6-002 ENSP00000359835 ENST00000370799	Q5JRC6 [Direct mapping] PHD finger protein 6; PHD finger protein 6, isoform CRA_d Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0008270 [zinc ion binding] Show all	324 aa 36.4 kDa	No	0
PHF6-003 ENSP00000359836 ENST00000370800	Q8IWS0 [Direct mapping] PHD finger protein 6 Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000777 [condensed chromosome kinetochore] GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005730 [nucleolus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0015631 [tubulin binding] GO:0019899 [enzyme binding] GO:0042393 [histone binding] GO:0042826 [histone deacetylase binding] GO:0043021 [ribonucleoprotein complex binding] GO:0044822 [poly(A) RNA binding] GO:0051219 [phosphoprotein binding] GO:0097110 [scaffold protein binding] Show all	312 aa 35.3 kDa	No	0
PHF6-004 ENSP00000329097 ENST00000332070	Q8IWS0 [Direct mapping] PHD finger protein 6 Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000777 [condensed chromosome kinetochore] GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005730 [nucleolus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0015631 [tubulin binding] GO:0019899 [enzyme binding] GO:0042393 [histone binding] GO:0042826 [histone deacetylase binding] GO:0043021 [ribonucleoprotein complex binding] GO:0044822 [poly(A) RNA binding] GO:0051219 [phosphoprotein binding] GO:0097110 [scaffold protein binding] Show all	365 aa 41.3 kDa	No	0
PHF6-201 ENSP00000487420 ENST00000625464	A0A0D9SGE8 [Direct mapping] PHD finger protein 6 Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0008270 [zinc ion binding] Show all	366 aa 41.4 kDa	No	0

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The Human Protein Atlas

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