Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5034
Gene name Gene Name - the full gene name approved by the HGNC.
Prolyl 4-hydroxylase subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
P4HB
Synonyms (NCBI Gene) Gene synonyms aliases
CLCRP1, DSI, ERBA2L, GIT, P4Hbeta, PDI, PDIA1, PHDB, PO4DB, PO4HB, PROHB
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CLCRP1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT003155 hsa-miR-210-3p 2DGE, immunoprecipitaion, Mass spectrometry, Microarray, qRT-PCR, Western 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 information of associated ontologies with gene provided by GO database.
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 21873635
GO:0003756 Function Protein disulfide isomerase activity IDA 15225124, 21091435
GO:0003779 Function Actin binding IPI 24415753
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
176790 8548 ENSG00000185624
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cole carpenter syndrome Cole Carpenter syndrome, COLE-CARPENTER SYNDROME 1, Cole-Carpenter syndrome rs786204843, rs760670617, rs786204845, rs786204846, rs759594785, rs1578383414, rs1182434832, rs1578456973, rs1372766642 25683117, 29384951
Coronal craniosynostosis Coronal craniosynostosis rs1566992093
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Unknown
Disease term Disease name Evidence References Source
Cole Carpenter Syndrome Cole-Carpenter syndrome GenCC
Osteogenesis Imperfecta osteogenesis imperfecta type 1 GenCC
Associations from Text Mining
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