P4HTM (prolyl 4-hydroxylase, transmembrane)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54681
Gene name Gene Name - the full gene name approved by the HGNC.
Prolyl 4-hydroxylase, transmembrane
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
P4HTM
Synonyms (NCBI Gene) Gene synonyms aliases
EGLN4, HIDEA, HIFPH4, P4H-TM, PH-4, PH4, PHD4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HIDEA
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31|3p21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 m
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs182812551 G>A Pathogenic Coding sequence variant, missense variant
rs1576601503 ->C Uncertain-significance, pathogenic Frameshift variant, coding sequence variant
rs1576606484 A>C Uncertain-significance, pathogenic Missense variant, coding sequence variant
rs1576608329 G>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
miRTarBase ID miRNA Experiments Reference
MIRT1209249 hsa-miR-1289 CLIP-seq
MIRT1209250 hsa-miR-3198 CLIP-seq
MIRT1209251 hsa-miR-4294 CLIP-seq
MIRT1209252 hsa-miR-4309 CLIP-seq
MIRT1209253 hsa-miR-4534 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0004656 Function Procollagen-proline 4-dioxygenase activity IBA 21873635
GO:0005506 Function Iron ion binding IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005783 Component Endoplasmic reticulum IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614584 28858 ENSG00000178467
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9NXG6
Protein name Transmembrane prolyl 4-hydroxylase (P4H-TM) (EC 1.14.11.29) (Hypoxia-inducible factor prolyl hydroxylase 4) (HIF-PH4) (HIF-prolyl hydroxylase 4) (HPH-4)
Protein function Catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF1A at 'Pro-402' and 'Pro-564'. May function as a cellular oxygen sensor and, under normoxic conditions, may target H
PDB 6TP5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13499 EF-hand_7 190 → 252 EF-hand domain pair Domain
PF13640 2OG-FeII_Oxy_3 314 → 459 2OG-Fe(II) oxygenase superfamily Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in adult pancreas, heart, skeletal muscle, brain, placenta, kidney and adrenal gland. Expressed at lower levels in epiphyseal cartilage and in fibroblasts. {ECO:0000269|PubMed:12163023, ECO:0000269|
Sequence 
MAAAAVTGQRPETAAAEEASRPQWAPPDHCQAQAAAGLGDGEDAPVRPLCKPRGICSRAY
FLVLMVFVHLYLGNVLALLLFVHYSNGDESSDPGPQHRAQGPGPEPTLGPLTRLEGIKVG
HERKVQLVTDRDHFIRTLSLKPLLFEIPGFLTDEECRLIIHLAQMKGLQRSQILPTEEYE
EAMSTMQVSQLDLFRLLDQNRDGHLQLREVLAQTRLGNGWWMTPESIQEMYAAIKADPDG
DGVLSLQEFSNMDLRDFHKYMRSHKAESSELVRNSHHTWLYQGEGAHHIMRAIRQRVLRL
TRLSPEIVELSEPLQVVRYGEGGHYHAHVDSGPVYPETICSHTKLVANESVPFETSCRYM
TVLFYLNNVTGGGETVFPVADNRTYDEMSLIQDDVDLRDTRRHCDKGNLRVKPQQGTAVF
WYNYLPDGQGWVGDVDDYSLHGGCLVTRGTKWIANNWINVDPSRARQALFQQEMARLARE
GGTDSQPEWALDRAYRDARVEL
Sequence length 502
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)		 30940925, 25078763
Dysautonomia Dysautonomia rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086
View all (27 more)		 25078763
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)		 25078763, 30940925
Myopia Myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)
Show/Hide Text Mining Associations (13)
Associations from Text Mining
Disease Name Relationship Type References
Eye Abnormalities Associate 30940925, 34285383
Hypoventilation Associate 30940925, 34285383
Hypoxia Stimulate 17726031
Intellectual Disability Associate 30940925, 33298456, 34285383
Kidney Diseases Inhibit 24475278
Mitochondrial Diseases Associate 34285383
Muscle Hypotonia Associate 30940925, 34285383
Neoplasm Metastasis Associate 26965286
Neuroblastoma Associate 17726031
Primary Dysautonomias Associate 30940925, 34285383