P4HTM (prolyl 4-hydroxylase, transmembrane)

2007-04-01  

Identity

HGNC
P4HTM
LOCATION
3p21.31
LOCUSID
54681
ALIAS
EGLN4,HIDEA,HIFPH4,P4H-TM,PH-4,PH4,PHD4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54681
MIM: 614584
HGNC: 28858
Ensembl: ENSG00000178467

Variants:

dbSNP: 54681
ClinVar: 54681
TCGA: ENSG00000178467
COSMIC: P4HTM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178467ENST00000343546Q9NXG6
ENSG00000178467ENST00000383729Q9NXG6
ENSG00000178467ENST00000444213H7C153
ENSG00000178467ENST00000472796V9GYK5
ENSG00000178467ENST00000475629A0A0C4DGS7
ENSG00000178467ENST00000491739V9GY20

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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

References

Pubmed IDYearTitleCitations
384411452024A pathogenic P4HTM gene variant in two brothers with autism spectrum disorder.0
384411452024A pathogenic P4HTM gene variant in two brothers with autism spectrum disorder.0
370839802023Biallelic Mutations in P4HTM Cause Syndromic Obesity.3
370839802023Biallelic Mutations in P4HTM Cause Syndromic Obesity.3
333348832021Structure of transmembrane prolyl 4-hydroxylase reveals unique organization of EF and dioxygenase domains.6
333348832021Structure of transmembrane prolyl 4-hydroxylase reveals unique organization of EF and dioxygenase domains.6
329650802020Further delineation of HIDEA syndrome.4
329650802020Further delineation of HIDEA syndrome.4
278403182016Sestrin2 inhibits hypoxia-inducible factor-1α accumulation via AMPK-mediated prolyl hydroxylase regulation.25
278403182016Sestrin2 inhibits hypoxia-inducible factor-1α accumulation via AMPK-mediated prolyl hydroxylase regulation.25
248955552014The hypoxia-inducible factor pathway, prolyl hydroxylase domain protein inhibitors, and their roles in bone repair and regeneration.33
248955552014The hypoxia-inducible factor pathway, prolyl hydroxylase domain protein inhibitors, and their roles in bone repair and regeneration.33
232412412012Human prolyl hydroxylase expression in uterine leiomyoma during the menstrual cycle.1
232412412012Human prolyl hydroxylase expression in uterine leiomyoma during the menstrual cycle.1
161545312005Regulation of hypoxia-inducible factor 1 by prolyl and asparaginyl hydroxylases.92

Citation

Dessen P

P4HTM (prolyl 4-hydroxylase, transmembrane)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46815/js/lib/jquery-3.5.1.min.js