Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600608 8547 ENSG00000072682
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
QFFPTDEDEIGAAKALMRLQDTYRLDPGTISRGELPG
TKYQAMLSVDDCFGMGRSAYNEG
DYYHTVLWMEQVLKQLDAGEEATTTKSQVLDYLSYAVFQLGDLHRALELTRRLLSLDPSH
ERAGGNLRYFEQLLEEEREKTLTNQTEAELATPEGIYERPVDYLPERDVYESLCRGEGVK
LTPRRQKRLFCRYHHGNRAPQLLIAPFKEEDEWDSPHIVRYYDVMSDEEIERIKEIAKPK
LARATVRDPKTGVLTVASYRVSKSSWLEEDDDPVVARVNRRMQHITGLTVKTAELLQVAN
YGVGGQYEPHFDFSRNDERDTFKHLGTGNRVATFLNYMSDVEAGGATVFPDLGAAIWPKK
GTAVFWYNLLRSGEGDYRTRHAACPVLVGCKWVSNKWFH
ERGQEFLRPCGSTEVD
Sequence length 535
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Arginine and proline metabolism
Metabolic pathways
  Collagen biosynthesis and modifying enzymes
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Myopia 25, autosomal dominant Pathogenic rs764211125, rs1135402746 RCV000412662
RCV000412535
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Angiofibroma Angiofibroma BEFREE 27633981
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 29437589
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24383403
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 30410060
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Breast Ductal carcinoma of breast Pubtator 30410060, 35076865 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33215860, 37248456 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Intraductal Noninfiltrating Intraductal noninfiltrating carcinoma Pubtator 30410060, 35076865 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31268606
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 31814898
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 31814898
★☆☆☆☆
Found in Text Mining only