ENSG00000072682


Homo sapiens

Features
Gene ID: ENSG00000072682
  
Biological name :P4HA2
  
Synonyms : O15460 / P4HA2 / prolyl 4-hydroxylase subunit alpha 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: q31.1
Gene start: 132191838
Gene end: 132295315
  
Corresponding Affymetrix probe sets: 1555027_at (Human Genome U133 Plus 2.0 Array)   202733_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000368398
Ensembl peptide - ENSP00000378593
Ensembl peptide - ENSP00000413542
Ensembl peptide - ENSP00000405406
Ensembl peptide - ENSP00000403883
Ensembl peptide - ENSP00000396495
Ensembl peptide - ENSP00000395956
Ensembl peptide - ENSP00000394953
Ensembl peptide - ENSP00000391257
Ensembl peptide - ENSP00000389523
Ensembl peptide - ENSP00000384999
Ensembl peptide - ENSP00000166534
Ensembl peptide - ENSP00000353772
Ensembl peptide - ENSP00000368379
Ensembl peptide - ENSP00000368394
NCBI entrez gene - 8974     See in Manteia.
OMIM - 600608
RefSeq - XM_017010011
RefSeq - XM_011543705
RefSeq - XM_006714730
RefSeq - XM_005272117
RefSeq - XM_005272116
RefSeq - XM_006714729
RefSeq - XM_006714728
RefSeq - XM_005272120
RefSeq - XM_005272119
RefSeq - NM_001017973
RefSeq - NM_001017974
RefSeq - NM_001142598
RefSeq - NM_001142599
RefSeq - NM_004199
RefSeq - XM_017010012
RefSeq - XM_005272118
RefSeq Peptide - NP_001017974
RefSeq Peptide - NP_001017973
RefSeq Peptide - NP_001136070
RefSeq Peptide - NP_001136071
RefSeq Peptide - NP_004190
swissprot - O15460
swissprot - E7ERI1
swissprot - A8MXE0
swissprot - C9JCP0
swissprot - C9JFJ1
swissprot - C9JIG4
swissprot - C9JN43
swissprot - C9JX45
swissprot - E7ENX0
swissprot - E7EPI9
Ensembl - ENSG00000072682
  
Related genetic diseases (OMIM): 617238 - Myopia 25, autosomal dominant, 617238
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 p4ha2ENSDARG00000010085Danio rerio
 P4HA2ENSGALG00000006677Gallus gallus
 P4ha2ENSMUSG00000018906Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P4HA1 / P13674 / prolyl 4-hydroxylase subunit alpha 1ENSG0000012288462
P4HA3 / Q7Z4N8 / prolyl 4-hydroxylase subunit alpha 3ENSG0000014938032


Protein motifs (from Interpro)
Interpro ID Name
 IPR005123  Oxoglutarate/iron-dependent dioxygenase
 IPR006620  Prolyl 4-hydroxylase, alpha subunit
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR013026  Tetratricopeptide repeat-containing domain
 IPR013547  Prolyl 4-hydroxylase alpha-subunit, N-terminal
 IPR019734  Tetratricopeptide repeat


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0019511 peptidyl-proline hydroxylation IEA
 biological_processGO:0022900 electron transport chain IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0004656 procollagen-proline 4-dioxygenase activity TAS
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0009055 electron transfer activity TAS
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA
 molecular_functionGO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
 molecular_functionGO:0031418 L-ascorbic acid binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051213 dioxygenase activity IEA


Pathways (from Reactome)
Pathway description
Collagen biosynthesis and modifying enzymes


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0011003 Severe Myopia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000072682 P4HA2 / O15460 / prolyl 4-hydroxylase subunit alpha 2  / complex
 ENSG00000108821 COL1A1 / P02452 / collagen type I alpha 1 chain  / reaction
 ENSG00000123500 Q03692 / COL10A1 / collagen type X alpha 1 chain  / reaction
 ENSG00000168542 COL3A1 / P02461 / collagen type III alpha 1 chain  / reaction
 ENSG00000164692 COL1A2 / P08123 / collagen type I alpha 2 chain  / reaction
 ENSG00000149380 P4HA3 / Q7Z4N8 / prolyl 4-hydroxylase subunit alpha 3  / complex
 ENSG00000185624 P4HB / P07237 / prolyl 4-hydroxylase subunit beta  / complex / reaction
 ENSG00000122884 P4HA1 / P13674 / prolyl 4-hydroxylase subunit alpha 1  / complex






 

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