Gene Gene information from NCBI Gene database.
Entrez ID 5034
Gene name Prolyl 4-hydroxylase subunit beta
Gene symbol P4HB
Synonyms (NCBI Gene)
CLCRP1DSIERBA2LGITP4HbetaPDIPDIA1PHDBPO4DBPO4HBPROHB
Chromosome 17
Chromosome location 17q25.3
Summary This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs786204843 T>C Pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
381
miRTarBase ID miRNA Experiments Reference
MIRT003155 hsa-miR-210-3p 2DGEimmunoprecipitaionMass spectrometryMicroarrayqRT-PCRWestern blot 19826008
MIRT049210 hsa-miR-92a-3p CLASH 23622248
MIRT047151 hsa-miR-183-5p CLASH 23622248
MIRT042160 hsa-miR-484 CLASH 23622248
MIRT040772 hsa-miR-18a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
63
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003756 Function Protein disulfide isomerase activity EXP 15720785
GO:0003756 Function Protein disulfide isomerase activity IBA
GO:0003756 Function Protein disulfide isomerase activity IDA 15225124, 21091435, 32149426
GO:0003756 Function Protein disulfide isomerase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176790 8548 ENSG00000185624
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07237
Protein name Protein disulfide-isomerase (PDI) (EC 5.3.4.1) (Cellular thyroid hormone-binding protein) (Prolyl 4-hydroxylase subunit beta) (p55)
Protein function This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural m
PDB 1BJX , 1MEK , 1X5C , 2BJX , 2K18 , 3BJ5 , 3UEM , 4EKZ , 4EL1 , 4JU5 , 6I7S , 7ZSC , 8EOJ , 8GDY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 25 131 Thioredoxin Domain
PF13848 Thioredoxin_6 161 345 Domain
PF00085 Thioredoxin 368 472 Thioredoxin Domain
Sequence
Sequence length 508
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum   Collagen biosynthesis and modifying enzymes
Detoxification of Reactive Oxygen Species
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Hedgehog ligand biogenesis
VLDL assembly
Post-translational protein phosphorylation
Chylomicron assembly
Interleukin-12 signaling
Interleukin-23 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
31
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cole-Carpenter syndrome 1 Likely pathogenic; Pathogenic rs2143371167, rs786204843 RCV001530199
RCV000169753
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Uncertain significance rs145146947 RCV005930449
Cole-Carpenter syndrome Uncertain significance rs2038725295 RCV001260283
Osteogenesis imperfecta Uncertain significance rs1158109159 RCV005626553
P4HB-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs138621837, rs376060719, rs759767318, rs145209834, rs201350121, rs1168761588, rs2509950922, rs2509951000, rs201834939, rs2509958020, rs201831951, rs145332986, rs144034161, rs142731141, rs151018460
View all (1 more)
RCV004754766
RCV003903533
RCV003971190
RCV003951217
RCV003936493
RCV003416870
RCV003397585
RCV003964197
RCV003941661
RCV003949220
RCV003955793
RCV003957934
RCV003920726
RCV003950768
RCV003970528
RCV003925817
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abetalipoproteinemia Associate 8939939
Adenocarcinoma Associate 33120770
Adenocarcinoma of Lung Associate 33120770, 35029906, 37880717
Alzheimer Disease Associate 21130735, 24094038
Amyotrophic Lateral Sclerosis Associate 25913742
Antiphospholipid Syndrome Associate 18759277
Aortic Dissection Associate 36819785
Azoospermia Stimulate 39237030
Bone Diseases Associate 29263160
Brain Neoplasms Associate 29235250