P4HTM (prolyl 4-hydroxylase, transmembrane)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 54681
Gene name Prolyl 4-hydroxylase, transmembrane
Gene symbol P4HTM
Synonyms (NCBI Gene)
EGLN4HIDEAHIFPH4P4H-TMPH-4PH4PHD4
Chromosome 3
Chromosome location 3p21.31|3p21.3
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 m
SNPs SNP information provided by dbSNP.
4
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.
15
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0004656 Function Procollagen-proline 4-dioxygenase activity IBA
GO:0005506 Function Iron ion binding IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614584 28858 ENSG00000178467
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities Likely pathogenic; Pathogenic rs2471545464, rs758831068, rs182812551, rs1576610000 RCV003326725
RCV003337750
RCV000787322
RCV000787325
Intellectual disability Likely pathogenic rs757914897 RCV001261381
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
P4HTM-related disorder Likely benign; Conflicting classifications of pathogenicity rs140290144, rs62621815, rs145882337 RCV003929127
RCV003966403
RCV003906831
Show/Hide Text Mining Associations (13)
Associations from Text MiningDisease associations identified through Pubtator
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