Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8974
Gene name	Prolyl 4-hydroxylase subunit alpha 2
Gene symbol	P4HA2
Synonyms (NCBI Gene)	MYP25lncRNA-PE
Chromosome	5
Chromosome location	5q31.1
Summary	This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part o

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs758872875	C>T	Pathogenic	Missense variant, coding sequence variant
rs764211125	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs1135402746	AC>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant

200

Show/Hide all (200)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005168	hsa-miR-30a-5p	pSILAC	18668040
MIRT021377	hsa-miR-9-5p	Microarray	17612493
MIRT005168	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT1209148	hsa-miR-129-5p	CLIP-seq
MIRT1209149	hsa-miR-495	CLIP-seq
MIRT1209150	hsa-miR-548ac	CLIP-seq
MIRT1209151	hsa-miR-548ae	CLIP-seq
MIRT1209152	hsa-miR-548aj	CLIP-seq
MIRT1209153	hsa-miR-548am	CLIP-seq
MIRT1209154	hsa-miR-548d-3p	CLIP-seq
MIRT1209155	hsa-miR-548x	CLIP-seq
MIRT1209156	hsa-miR-548z	CLIP-seq
MIRT1209157	hsa-miR-3914	CLIP-seq
MIRT1209158	hsa-miR-4293	CLIP-seq
MIRT1209159	hsa-miR-548c-3p	CLIP-seq
MIRT1209160	hsa-miR-30a	CLIP-seq
MIRT1209161	hsa-miR-30b	CLIP-seq
MIRT1209162	hsa-miR-30c	CLIP-seq
MIRT1209163	hsa-miR-30d	CLIP-seq
MIRT1209164	hsa-miR-30e	CLIP-seq
MIRT1209165	hsa-miR-361-5p	CLIP-seq
MIRT1209166	hsa-miR-4420	CLIP-seq
MIRT1209167	hsa-miR-4495	CLIP-seq
MIRT1209149	hsa-miR-495	CLIP-seq
MIRT1209150	hsa-miR-548ac	CLIP-seq
MIRT1209151	hsa-miR-548ae	CLIP-seq
MIRT1209152	hsa-miR-548aj	CLIP-seq
MIRT1209153	hsa-miR-548am	CLIP-seq
MIRT1209154	hsa-miR-548d-3p	CLIP-seq
MIRT1209155	hsa-miR-548x	CLIP-seq
MIRT1209156	hsa-miR-548z	CLIP-seq
MIRT1209168	hsa-miR-624	CLIP-seq
MIRT1209169	hsa-miR-659	CLIP-seq
MIRT1209170	hsa-miR-9	CLIP-seq
MIRT2060075	hsa-miR-4492	CLIP-seq
MIRT2060076	hsa-miR-4498	CLIP-seq
MIRT2060077	hsa-miR-762	CLIP-seq
MIRT2288422	hsa-let-7a	CLIP-seq
MIRT2288423	hsa-let-7b	CLIP-seq
MIRT2288424	hsa-let-7c	CLIP-seq
MIRT2288425	hsa-let-7d	CLIP-seq
MIRT2288426	hsa-let-7e	CLIP-seq
MIRT2288427	hsa-let-7f	CLIP-seq
MIRT2288428	hsa-let-7g	CLIP-seq
MIRT2288429	hsa-let-7i	CLIP-seq
MIRT2288430	hsa-miR-1184	CLIP-seq
MIRT2288431	hsa-miR-1228	CLIP-seq
MIRT2288432	hsa-miR-124	CLIP-seq
MIRT2288433	hsa-miR-202	CLIP-seq
MIRT2288434	hsa-miR-3200-3p	CLIP-seq
MIRT2288435	hsa-miR-342-3p	CLIP-seq
MIRT1209166	hsa-miR-4420	CLIP-seq
MIRT2288436	hsa-miR-4458	CLIP-seq
MIRT2288437	hsa-miR-4500	CLIP-seq
MIRT2288438	hsa-miR-4691-3p	CLIP-seq
MIRT2288439	hsa-miR-494	CLIP-seq
MIRT2288440	hsa-miR-506	CLIP-seq
MIRT2288441	hsa-miR-520d-5p	CLIP-seq
MIRT2288442	hsa-miR-524-5p	CLIP-seq
MIRT2288443	hsa-miR-544b	CLIP-seq
MIRT2288444	hsa-miR-548an	CLIP-seq
MIRT2288445	hsa-miR-618	CLIP-seq
MIRT1209169	hsa-miR-659	CLIP-seq
MIRT1209170	hsa-miR-9	CLIP-seq
MIRT2288446	hsa-miR-98	CLIP-seq
MIRT2288422	hsa-let-7a	CLIP-seq
MIRT2288423	hsa-let-7b	CLIP-seq
MIRT2288424	hsa-let-7c	CLIP-seq
MIRT2288425	hsa-let-7d	CLIP-seq
MIRT2288426	hsa-let-7e	CLIP-seq
MIRT2288427	hsa-let-7f	CLIP-seq
MIRT2288428	hsa-let-7g	CLIP-seq
MIRT2288429	hsa-let-7i	CLIP-seq
MIRT2288431	hsa-miR-1228	CLIP-seq
MIRT2288432	hsa-miR-124	CLIP-seq
MIRT2288433	hsa-miR-202	CLIP-seq
MIRT2288434	hsa-miR-3200-3p	CLIP-seq
MIRT2431821	hsa-miR-3622a-3p	CLIP-seq
MIRT2431822	hsa-miR-3622b-3p	CLIP-seq
MIRT2288436	hsa-miR-4458	CLIP-seq
MIRT2288437	hsa-miR-4500	CLIP-seq
MIRT2288440	hsa-miR-506	CLIP-seq
MIRT2288441	hsa-miR-520d-5p	CLIP-seq
MIRT2288442	hsa-miR-524-5p	CLIP-seq
MIRT2288443	hsa-miR-544b	CLIP-seq
MIRT2288444	hsa-miR-548an	CLIP-seq
MIRT2288446	hsa-miR-98	CLIP-seq
MIRT2288422	hsa-let-7a	CLIP-seq
MIRT2288423	hsa-let-7b	CLIP-seq
MIRT2288424	hsa-let-7c	CLIP-seq
MIRT2288425	hsa-let-7d	CLIP-seq
MIRT2288426	hsa-let-7e	CLIP-seq
MIRT2288427	hsa-let-7f	CLIP-seq
MIRT2288428	hsa-let-7g	CLIP-seq
MIRT2288429	hsa-let-7i	CLIP-seq
MIRT2288430	hsa-miR-1184	CLIP-seq
MIRT2288431	hsa-miR-1228	CLIP-seq
MIRT2288432	hsa-miR-124	CLIP-seq
MIRT2586510	hsa-miR-1252	CLIP-seq
MIRT2586511	hsa-miR-1587	CLIP-seq
MIRT2586512	hsa-miR-183	CLIP-seq
MIRT2288433	hsa-miR-202	CLIP-seq
MIRT2586513	hsa-miR-3189-3p	CLIP-seq
MIRT2586514	hsa-miR-3199	CLIP-seq
MIRT2288434	hsa-miR-3200-3p	CLIP-seq
MIRT2586515	hsa-miR-3202	CLIP-seq
MIRT2288435	hsa-miR-342-3p	CLIP-seq
MIRT2586516	hsa-miR-3614-3p	CLIP-seq
MIRT2431821	hsa-miR-3622a-3p	CLIP-seq
MIRT2431822	hsa-miR-3622b-3p	CLIP-seq
MIRT2586517	hsa-miR-3929	CLIP-seq
MIRT2586518	hsa-miR-4260	CLIP-seq
MIRT2586519	hsa-miR-4305	CLIP-seq
MIRT2586520	hsa-miR-4419b	CLIP-seq
MIRT2586521	hsa-miR-4438	CLIP-seq
MIRT2586522	hsa-miR-4446-3p	CLIP-seq
MIRT2288436	hsa-miR-4458	CLIP-seq
MIRT2586523	hsa-miR-4476	CLIP-seq
MIRT2586524	hsa-miR-4478	CLIP-seq
MIRT2060075	hsa-miR-4492	CLIP-seq
MIRT2060076	hsa-miR-4498	CLIP-seq
MIRT2288437	hsa-miR-4500	CLIP-seq
MIRT2586525	hsa-miR-4505	CLIP-seq
MIRT2586526	hsa-miR-4533	CLIP-seq
MIRT2586527	hsa-miR-4640-5p	CLIP-seq
MIRT2586528	hsa-miR-4656	CLIP-seq
MIRT2586529	hsa-miR-4675	CLIP-seq
MIRT2288438	hsa-miR-4691-3p	CLIP-seq
MIRT2586530	hsa-miR-4726-5p	CLIP-seq
MIRT2586531	hsa-miR-4741	CLIP-seq
MIRT2586532	hsa-miR-4790-3p	CLIP-seq
MIRT2586533	hsa-miR-489	CLIP-seq
MIRT2288439	hsa-miR-494	CLIP-seq
MIRT2288440	hsa-miR-506	CLIP-seq
MIRT2288441	hsa-miR-520d-5p	CLIP-seq
MIRT2288442	hsa-miR-524-5p	CLIP-seq
MIRT2288443	hsa-miR-544b	CLIP-seq
MIRT2288444	hsa-miR-548an	CLIP-seq
MIRT2288445	hsa-miR-618	CLIP-seq
MIRT2586534	hsa-miR-640	CLIP-seq
MIRT2060077	hsa-miR-762	CLIP-seq
MIRT2288446	hsa-miR-98	CLIP-seq
MIRT2288422	hsa-let-7a	CLIP-seq
MIRT2288423	hsa-let-7b	CLIP-seq
MIRT2288424	hsa-let-7c	CLIP-seq
MIRT2288425	hsa-let-7d	CLIP-seq
MIRT2288426	hsa-let-7e	CLIP-seq
MIRT2288427	hsa-let-7f	CLIP-seq
MIRT2288428	hsa-let-7g	CLIP-seq
MIRT2288429	hsa-let-7i	CLIP-seq
MIRT2288430	hsa-miR-1184	CLIP-seq
MIRT2288431	hsa-miR-1228	CLIP-seq
MIRT2288432	hsa-miR-124	CLIP-seq
MIRT2586510	hsa-miR-1252	CLIP-seq
MIRT2586511	hsa-miR-1587	CLIP-seq
MIRT2586512	hsa-miR-183	CLIP-seq
MIRT2288433	hsa-miR-202	CLIP-seq
MIRT2686987	hsa-miR-3179	CLIP-seq
MIRT2586513	hsa-miR-3189-3p	CLIP-seq
MIRT2586514	hsa-miR-3199	CLIP-seq
MIRT2288434	hsa-miR-3200-3p	CLIP-seq
MIRT2586515	hsa-miR-3202	CLIP-seq
MIRT2288435	hsa-miR-342-3p	CLIP-seq
MIRT2586516	hsa-miR-3614-3p	CLIP-seq
MIRT2431821	hsa-miR-3622a-3p	CLIP-seq
MIRT2431822	hsa-miR-3622b-3p	CLIP-seq
MIRT2586517	hsa-miR-3929	CLIP-seq
MIRT2586518	hsa-miR-4260	CLIP-seq
MIRT2686988	hsa-miR-4271	CLIP-seq
MIRT2586519	hsa-miR-4305	CLIP-seq
MIRT2586520	hsa-miR-4419b	CLIP-seq
MIRT2586521	hsa-miR-4438	CLIP-seq
MIRT2586522	hsa-miR-4446-3p	CLIP-seq
MIRT2288436	hsa-miR-4458	CLIP-seq
MIRT2586523	hsa-miR-4476	CLIP-seq
MIRT2586524	hsa-miR-4478	CLIP-seq
MIRT2060075	hsa-miR-4492	CLIP-seq
MIRT2060076	hsa-miR-4498	CLIP-seq
MIRT2288437	hsa-miR-4500	CLIP-seq
MIRT2586525	hsa-miR-4505	CLIP-seq
MIRT2586526	hsa-miR-4533	CLIP-seq
MIRT2586527	hsa-miR-4640-5p	CLIP-seq
MIRT2586528	hsa-miR-4656	CLIP-seq
MIRT2586529	hsa-miR-4675	CLIP-seq
MIRT2288438	hsa-miR-4691-3p	CLIP-seq
MIRT2686989	hsa-miR-4725-3p	CLIP-seq
MIRT2586530	hsa-miR-4726-5p	CLIP-seq
MIRT2586531	hsa-miR-4741	CLIP-seq
MIRT2586532	hsa-miR-4790-3p	CLIP-seq
MIRT2586533	hsa-miR-489	CLIP-seq
MIRT2288439	hsa-miR-494	CLIP-seq
MIRT2288440	hsa-miR-506	CLIP-seq
MIRT2288441	hsa-miR-520d-5p	CLIP-seq
MIRT2288442	hsa-miR-524-5p	CLIP-seq
MIRT2288443	hsa-miR-544b	CLIP-seq
MIRT2288444	hsa-miR-548an	CLIP-seq
MIRT2288445	hsa-miR-618	CLIP-seq
MIRT2586534	hsa-miR-640	CLIP-seq
MIRT2060077	hsa-miR-762	CLIP-seq
MIRT2288446	hsa-miR-98	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004656	Function	Procollagen-proline 4-dioxygenase activity	IBA
GO:0004656	Function	Procollagen-proline 4-dioxygenase activity	IDA	9211872
GO:0004656	Function	Procollagen-proline 4-dioxygenase activity	IEA
GO:0004656	Function	Procollagen-proline 4-dioxygenase activity	TAS	9211872
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 30021884, 32814053, 33961781, 35271311
GO:0005654	Component	Nucleoplasm	IDA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005829	Component	Cytosol	IDA
GO:0009055	Function	Electron transfer activity	TAS	9211872
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA

MIM	HGNC	e!Ensembl
600608	8547	ENSG00000072682

O15460

Protein name

Prolyl 4-hydroxylase subunit alpha-2 (4-PH alpha-2) (EC 1.14.11.2) (Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2)

Protein function

Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.

PDB

6EVL , 6EVM , 6EVN , 6EVO , 6EVP , 7ZSC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08336	P4Ha_N	26 → 157	Prolyl 4-Hydroxylase alpha-subunit, N-terminal region	Family
PF13640	2OG-FeII_Oxy_3	416 → 519	2OG-Fe(II) oxygenase superfamily	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the heart, placenta, lung and pancreas. {ECO:0000269|PubMed:9211872}.

Sequence

MKLWVSALLMAWFGVLSCVQAEFFTSIGHMTDLIYAEKELVQSLKEYILVEEAKLSKIKS
WANKMEALTSKSAADAEGYLAHPVNAYKLVKRLNTDWPALEDLVLQDSAAGFIANLSVQR
QFFPTDEDEIGAAKALMRLQDTYRLDPGTISRGELPGTKYQAMLSVDDCFGMGRSAYNEG
DYYHTVLWMEQVLKQLDAGEEATTTKSQVLDYLSYAVFQLGDLHRALELTRRLLSLDPSH
ERAGGNLRYFEQLLEEEREKTLTNQTEAELATPEGIYERPVDYLPERDVYESLCRGEGVK
LTPRRQKRLFCRYHHGNRAPQLLIAPFKEEDEWDSPHIVRYYDVMSDEEIERIKEIAKPK
LARATVRDPKTGVLTVASYRVSKSSWLEEDDDPVVARVNRRMQHITGLTVKTAELLQVAN
YGVGGQYEPHFDFSRNDERDTFKHLGTGNRVATFLNYMSDVEAGGATVFPDLGAAIWPKK
GTAVFWYNLLRSGEGDYRTRHAACPVLVGCKWVSNKWFHERGQEFLRPCGSTEVD

Sequence length

535

Interactions

View interactions

	KEGG		Reactome
	Arginine and proline metabolism Metabolic pathways		Collagen biosynthesis and modifying enzymes

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Myopia 25, autosomal dominant	Pathogenic	rs764211125, rs1135402746	RCV000412662 RCV000412535

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Likely benign	rs200399940	RCV005939462
P4HA2-related disorder	Uncertain significance; Benign; Likely benign	rs2531767756, rs377044728, rs116723404, rs201974946, rs202230111, rs138182231, rs34435009, rs369753157, rs73788824, rs142426918, rs61739875, rs150432961, rs139531777	RCV003402541 RCV003408751 RCV003929141 RCV003914276 RCV003967301 RCV003909559 RCV003909566 RCV003933965 RCV003929489 RCV003960596 RCV003936191 RCV003940385 RCV004754665
Thyroid cancer, nonmedullary, 1	Likely benign	rs200399940	RCV005939463
Uterine corpus endometrial carcinoma	Likely benign	rs141989159	RCV005902878

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	36403427
Angiofibroma	Associate	27633981
Carcinoma Ductal Breast	Associate	30410060, 35076865
Carcinoma Hepatocellular	Associate	33215860, 37248456
Carcinoma Intraductal Noninfiltrating	Associate	30410060, 35076865
Colorectal Neoplasms	Associate	38522060
Esophageal Squamous Cell Carcinoma	Associate	26330293
Giant Cell Arteritis	Associate	28041642
Glioblastoma	Associate	20504876, 35111402
Hypoxia	Associate	23423382, 26059435
Hypoxia Brain	Associate	23423382, 26059435
Lung Neoplasms	Associate	22797725, 36403427
Lymphatic Metastasis	Associate	36403427
Lymphatic Metastasis	Stimulate	38522060
Myopia	Associate	25741866, 35002215, 36206672, 37191617
Necrosis	Associate	30410060
Neoplasm Metastasis	Associate	36403427
Neoplasm Metastasis	Stimulate	38522060
Neoplasms	Associate	27633981, 29471829, 30880498, 36403427, 38522060
Pancreatic Neoplasms	Associate	30880498
Retinal Diseases	Associate	37191617
Squamous Cell Carcinoma of Head and Neck	Associate	32015424
Triple Negative Breast Neoplasms	Associate	29471829
Vasculitis	Associate	28041642

P4HA2 (prolyl 4-hydroxylase subunit alpha 2)