PHF5A (PHD finger protein 5A)

2019-08-01  

Identity

HGNC
PHF5A
LOCATION
22q13.2
LOCUSID
84844
ALIAS
INI,Rds3,SAP14b,SF3B7,SF3b14b,bK223H9.2

Other Information

Locus ID:

NCBI: 84844
MIM: 617846
HGNC: 18000
Ensembl: ENSG00000100410

Variants:

dbSNP: 84844
ClinVar: 84844
TCGA: ENSG00000100410
COSMIC: PHF5A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100410ENST00000216252Q7RTV0
ENSG00000100410ENST00000216252A0A024R1U2

Expression (GTEx)

0
10
20
30
40
50
60
70
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

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, U2-snRNPKEGGhsa_M00352
Spliceosome, U2-snRNPKEGGM00352
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

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
384297562024PHF5A promotes esophageal squamous cell carcinoma progression via stabilizing VEGFA.0
384297562024PHF5A promotes esophageal squamous cell carcinoma progression via stabilizing VEGFA.0
367920752023[PHF5A Promotes Proliferation and Migration of Non-Small Cell Lung Cancer 
by Regulating of PI3K/AKT Pathway].1
374227182023De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.1
374342352023PHF5A regulates the expression of the DOCK5 variant to promote HNSCC progression through p38 MAPK activation.2
378453582023PHF5A is a potential diagnostic, prognostic, and immunological biomarker in pan-cancer.1
367920752023[PHF5A Promotes Proliferation and Migration of Non-Small Cell Lung Cancer 
by Regulating of PI3K/AKT Pathway].1
374227182023De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.1
374342352023PHF5A regulates the expression of the DOCK5 variant to promote HNSCC progression through p38 MAPK activation.2
378453582023PHF5A is a potential diagnostic, prognostic, and immunological biomarker in pan-cancer.1
357777982022PHF5A Contributes to the Maintenance of the Cancer Stem-like Phenotype in Non-Small Cell Lung Cancer by Regulating Histone Deacetylase 8.5
365815802022Research progress and therapeutic prospect of PHF5A acting as a new target for malignant tumors.1
357777982022PHF5A Contributes to the Maintenance of the Cancer Stem-like Phenotype in Non-Small Cell Lung Cancer by Regulating Histone Deacetylase 8.5
365815802022Research progress and therapeutic prospect of PHF5A acting as a new target for malignant tumors.1
339380172021Phf5a regulates DNA repair in class switch recombination via p400 and histone H2A variant deposition.14

Citation

Dessen P

PHF5A (PHD finger protein 5A)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58140