PHF6 (PHD finger protein 6)

2010-05-01  

Identity

HGNC
PHF6
LOCATION
Xq26.2
LOCUSID
84295
ALIAS
BFLS,BORJ,CENP-31
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84295
MIM: 300414
HGNC: 18145
Ensembl: ENSG00000156531

Variants:

dbSNP: 84295
ClinVar: 84295
TCGA: ENSG00000156531
COSMIC: PHF6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156531ENST00000332070Q8IWS0
ENSG00000156531ENST00000370799Q5JRC6
ENSG00000156531ENST00000370800Q8IWS0
ENSG00000156531ENST00000370803Q8IWS0
ENSG00000156531ENST00000625464A0A0D9SGE8

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
384184522024Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.1
384184522024Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.1
360085972023The Role of PHF6 in Hematopoiesis and Hematologic Malignancies.4
361761872023PHF6 mutation is associated with poor outcome in acute myeloid leukaemia.2
367567142023PHF6 promotes the progression of endometrial carcinoma by increasing cancer cells growth and decreasing T-cell infiltration.2
369674432023PHF6 recruits BPTF to promote HIF-dependent pathway and progression in YAP-high breast cancer.1
388129972023Investigating the physiological role of S199A and S199D mutants of PHF6 protein in T-cell acute lymphoblastic leukemia.0
360085972023The Role of PHF6 in Hematopoiesis and Hematologic Malignancies.4
361761872023PHF6 mutation is associated with poor outcome in acute myeloid leukaemia.2
367567142023PHF6 promotes the progression of endometrial carcinoma by increasing cancer cells growth and decreasing T-cell infiltration.2
369674432023PHF6 recruits BPTF to promote HIF-dependent pathway and progression in YAP-high breast cancer.1
388129972023Investigating the physiological role of S199A and S199D mutants of PHF6 protein in T-cell acute lymphoblastic leukemia.0
353387742022Functional mapping of PHF6 complexes in chromatin remodeling, replication dynamics, and DNA repair.4
356620022022Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.6
357805732022MiR-1306-5p promotes cell proliferation and inhibits cell apoptosis in acute myeloid leukemia by downregulating PHF6 expression.1

Citation

Dessen P

PHF6 (PHD finger protein 6)

Atlas Genet Cytogenet Oncol Haematol. 2010-05-01

Online version: http://atlasgeneticsoncology.org/gene/51483/meetings/deep-insight-explorer/gene-fusions/css/card-gene.css