Gene table of P4HB : prolyl 4-hydroxylase subunit beta

Gene-disease associations table

Disease ID	Disease name	Source of annotation with P4HB	OMIM link	Number of associated genes	genes
PS112240	COLE-CARPENTER SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	SEC24D, P4HB

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Protein processing in endoplasmic reticulum	hsa04141	5.35

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Hedgehog ligand biogenesis	R-HSA-5358346	6.98
Lipoprotein metabolism	R-HSA-174824	8.23
Signaling by Hedgehog	R-HSA-5358351	5.79
Cellular responses to stress	R-HSA-2262752	4.56
Extracellular matrix organization	R-HSA-1474244	4.91
Metabolism	R-HSA-1430728	2.34
Signal Transduction	R-HSA-162582	1.78
Lipid digestion, mobilization, and transport	R-HSA-73923	7.2
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79
Collagen formation	R-HSA-1474290	6.56
Collagen biosynthesis and modifying enzymes	R-HSA-1650814	6.98
Detoxification of Reactive Oxygen Species	R-HSA-3299685	8.23
Chylomicron-mediated lipid transport	R-HSA-174800	9.18

Associated GO terms for Molecular function

GO term	GO ID	GO IC
enzyme binding	GO:0019899	2.27
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
intramolecular oxidoreductase activity, transposing S-S bonds	GO:0016864	6.65
heterocyclic compound binding	GO:1901363	1.06
oxidoreductase activity	GO:0016491	3.12
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors	GO:0016706	5.95
procollagen-proline 4-dioxygenase activity	GO:0004656	8.35
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	4.65
protein disulfide isomerase activity	GO:0003756	6.65
protein complex binding	GO:0032403	3.09
intramolecular oxidoreductase activity	GO:0016860	5.75
integrin binding	GO:0005178	5.07
poly(A) RNA binding	GO:0044822	2.69
catalytic activity	GO:0003824	1.05
peptidyl-proline 4-dioxygenase activity	GO:0031545	7.66
cell adhesion molecule binding	GO:0050839	4.5
peptidyl-proline dioxygenase activity	GO:0031543	7.25
receptor binding	GO:0005102	2.43
isomerase activity	GO:0016853	4.62
dioxygenase activity	GO:0051213	5.25
procollagen-proline dioxygenase activity	GO:0019798	7.79
organic cyclic compound binding	GO:0097159	1.05
RNA binding	GO:0003723	2.36
protein binding	GO:0005515	0.46
protein dimerization activity	GO:0046983	2.72
protein heterodimerization activity	GO:0046982	3.64