PHYH (phytanoyl-CoA 2-hydroxylase)

2014-11-01  

Identity

HGNC
PHYH
LOCATION
10p13
LOCUSID
5264
ALIAS
LN1,LNAP1,PAHX,PHYH1,RD

Other Information

Locus ID:

NCBI: 5264
MIM: 602026
HGNC: 8940
Ensembl: ENSG00000107537

Variants:

dbSNP: 5264
ClinVar: 5264
TCGA: ENSG00000107537
COSMIC: PHYH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107537ENST00000263038O14832
ENSG00000107537ENST00000396913O14832
ENSG00000107537ENST00000396920B1ALH6
ENSG00000107537ENST00000453759C9IYS5
ENSG00000107537ENST00000479604C9JR86

Expression (GTEx)

0
50
100
150
200
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
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Peroxisomal lipid metabolismREACTOMER-HSA-390918
Alpha-oxidation of phytanateREACTOMER-HSA-389599

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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
384119692024PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.0
384119692024PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.0
334682352021Prognostic role of PHYH for overall survival (OS) in clear cell renal cell carcinoma (ccRCC).5
334682352021Prognostic role of PHYH for overall survival (OS) in clear cell renal cell carcinoma (ccRCC).5
286816092017Cochlear Implantation in Siblings With Refsum's Disease.0
286816092017Cochlear Implantation in Siblings With Refsum's Disease.0
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.29
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.29
186127662008Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition.0
186127662008Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition.0
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83
159305192005Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands.5

Citation

Dessen P

PHYH (phytanoyl-CoA 2-hydroxylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71896