P4HTM - prolyl 4-hydroxylase, transmembrane Gene

Homo sapiens

Also known as PH4; PH-4; PHD4; EGLN4; HIDEA; HIFPH4; P4H-TM

Gene ID: 54681 | Gene type: protein coding

About P4HTM

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:48,989,908-49,007,153 (from NCBI)

This gene has 12 transcripts (splice variants), 296 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 16.9), adrenal (RPKM 14.4) and 25 other tissues.

Summary

The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

P4HTM Products(2)

mRNA	Protein	Name
NM_177938.2	NP_808807.2	transmembrane prolyl 4-hydroxylase isoform c
NM_177939.3	NP_808808.1	transmembrane prolyl 4-hydroxylase isoform a

P4HTM Protein Structure

EF-hand_5

2OG-FeII_Oxy_3

0
100
200
300
400
502 a.a.

Protein Preferred Names

Protein Names

transmembrane prolyl 4-hydroxylase

HIF-PH4

Related Diseases

Diseases

Alias

Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities

HIDEA

Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities

Dysautonomia

Hypotonia

Central Sleep Apnea

Central Sleep Apnea Syndrome	Sleep Apnea, Central
Primary Central Sleep Apnea	Central Sleep Apnea, Primary
Central Sleep Apnoea Syndrome	Csa - [Central Sleep Apnoea]
Csas - [Central Sleep Apnoea Syndrome]	Central Sleep Apnoea Due To Substances Including Medications

Spherocytosis, Type 3

Hereditary Spherocytosis Type 3	SPH3
Hs3	Spherocytosis, Hereditary, 3
Hereditary Spherocytosis 3	Spherocytosis 3

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Kabuki Syndrome 1

Kabuki Syndrome	Niikawa-Kuroki Syndrome
Kabuki Make-Up Syndrome	Kms
KABUK1	Kabuki Make Up Syndrome
Nks	Kabuki Makeup Syndrome
Kabuki Syndrome, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09946	P4HTM Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	P4HTM	VGNC	VGNC:64017
Mus musculus	P4HTM	MGD	MGI:1921693
Bos taurus	P4HTM	VGNC	VGNC:32539
Rattus norvegicus	P4HTM	RGD	RGD:1311848
Canis familiaris	P4HTM	VGNC	VGNC:44226
Macaca mulatta	P4HTM	VGNC	VGNC:75693

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