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Entry version 163 (13 Feb 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Egl nine homolog 2

Gene

EGLN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN2 is involved in regulating hypoxia tolerance and apoptosis in cardiac and skeletal muscle. Also regulates susceptibility to normoxic oxidative neuronal death. Links oxygen sensing to cell cycle and primary cilia formation by hydroxylating the critical centrosome component CEP192 which promotes its ubiquitination and subsequent proteasomal degradation. Hydroxylates IKBKB, mediating NF-kappaB activation in hypoxic conditions. Target proteins are preferentially recognized via a LXXLAP motif.7 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Protein has several cofactor binding sites:

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=20 µM for HIF1A DLDLEMLAPYIPMDDDFQL peptide (at pH 7.5 and 37 degrees Celsius)1 Publication
  2. KM=50 µM for L-ascorbate (at pH 7.5 and 37 degrees Celsius)1 Publication
  3. KM=1.0 µM for Fe2+ (at pH 7.5 and 37 degrees Celsius)1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi297Iron; via tele nitrogenPROSITE-ProRule annotation1 PublicationImported1
    Metal bindingi299IronPROSITE-ProRule annotation1 PublicationImported1
    Metal bindingi358Iron; via tele nitrogenPROSITE-ProRule annotation1 PublicationImported1
    <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei3672-oxoglutaratePROSITE-ProRule annotation1

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionDioxygenase, Oxidoreductase
    LigandIron, Metal-binding, Vitamin C

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:ENSG00000171570-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    1.14.11.2 2681
    1.14.11.29 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-1234176 Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha

    SIGNOR Signaling Network Open Resource

    More...
    SIGNORi
    Q96KS0

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    Egl nine homolog 2Curated (EC:1.14.11.29PROSITE-ProRule annotation3 Publications)
    Alternative name(s):
    Estrogen-induced tag 61 Publication
    Short name:
    EIT-61 Publication
    HPH-3
    Hypoxia-inducible factor prolyl hydroxylase 1
    Short name:
    HIF-PH1
    Short name:
    HIF-prolyl hydroxylase 1
    Short name:
    HPH-1
    Prolyl hydroxylase domain-containing protein 11 Publication
    Short name:
    PHD11 Publication
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:EGLN2Imported
    Synonyms:EIT61 Publication
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000269858.5

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:14660 EGLN2

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    606424 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q96KS0

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Nucleus

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1M → A: Leads to expression of isoform p40 only. 1 Publication1
    Mutagenesisi34M → A: Leads to expression of isoform p43 only. 1 Publication1
    Mutagenesisi102K → A: Retained in the nucleus. 1 Publication1
    Mutagenesisi106R → A: Retained in the nucleus. 1 Publication1
    Mutagenesisi113R → A: Retained in the nucleus. 1 Publication1
    Mutagenesisi119R → A: Cytoplasmic and nuclear localization. Reduced transcriptional activity of HIF1A as for wild type. 1 Publication1
    Mutagenesisi134R → A: Retained in the nucleus. 1 Publication1
    Mutagenesisi297H → A: Eliminates hydroxylase activity. 1 Publication1
    Mutagenesisi299D → A: Eliminates hydroxylase activity. 1 Publication1
    Mutagenesisi358H → A: Eliminates hydroxylase activity. 2 Publications1
    Mutagenesisi367R → A: Eliminates hydroxylase activity. 1 Publication1
    Mutagenesisi367R → K: Eliminates hydroxylase activity on a HIF1A peptide. 1 Publication1

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    112398

    Open Targets

    More...
    OpenTargetsi
    ENSG00000269858

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA27671

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL3028

    Drug and drug target database

    More...
    DrugBanki
    DB04847 FG-4592
    DB00126 Vitamin C

    IUPHAR/BPS Guide to PHARMACOLOGY

    More...
    GuidetoPHARMACOLOGYi
    2832

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    EGLN2

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    32129513

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002066641 – 407Egl nine homolog 2Add BLAST407

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei130PhosphoserineCombined sources1

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q96KS0

    PaxDb, a database of protein abundance averages across all three domains of life

    More...
    PaxDbi
    Q96KS0

    PeptideAtlas

    More...
    PeptideAtlasi
    Q96KS0

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q96KS0

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    77112
    77113 [Q96KS0-2]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q96KS0

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...
    PhosphoSitePlusi
    Q96KS0

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    <p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

    Expressed in adult and fetal heart, brain, liver, lung, skeletal muscle, and kidney. Also expressed in testis and placenta. Highest levels in adult brain, placenta, lung, kidney, and testis. Expressed in hormone responsive tissues, including normal and cancerous mammary, ovarian and prostate epithelium.1 Publication

    <p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

    By estrogen. Isoform p43 is induced by hypoxia leading to protein stability. Isoform p40 repressed by hypoxia. Both isoforms are induced by proteasomal inhibitor MG132 (at protein level).4 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000269858 Expressed in 93 organ(s), highest expression level in testis

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q96KS0 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q96KS0 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA056649

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Interacts (preferably isoform p40) with SIAH2; the interaction targets both SIAH2 isoforms for proteasomal degradation in vitro. Interacts with LIMD1, WTIP and AJUBA.2 Publications

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    WithEntry#Exp.IntActNotes
    HIF1AQ166652EBI-726614,EBI-447269

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    125184, 32 interactors

    CORUM comprehensive resource of mammalian protein complexes

    More...
    CORUMi
    Q96KS0

    Protein interaction database and analysis system

    More...
    IntActi
    Q96KS0, 7 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q96KS0

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000307080

    Chemistry databases

    BindingDB database of measured binding affinities

    More...
    BindingDBi
    Q96KS0

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    Secondary structure

    1407
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...
    PDBei

    Protein Data Bank RCSB

    More...
    RCSB PDBi

    Protein Data Bank Japan

    More...
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    5V1BX-ray2.49A167-403[»]

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    Q96KS0

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...
    SMRi
    Q96KS0

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini278 – 376Fe2OG dioxygenasePROSITE-ProRule annotationAdd BLAST99

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni225 – 235Beta(2)beta(3) 'finger-like' loopBy similarityAdd BLAST11

    Motif

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi89 – 134Bipartite nuclear localization signal1 PublicationAdd BLAST46

    <p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

    The Beta2beta3 'finger-like' loop domain is important for substrate (HIFs' CODD/NODD) selectivity.By similarity

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG3710 Eukaryota
    ENOG410ZHZN LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000160655

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000013099

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG051456

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q96KS0

    KEGG Orthology (KO)

    More...
    KOi
    K09592

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    QDGGELW

    Database of Orthologous Groups

    More...
    OrthoDBi
    1604981at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q96KS0

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF314595

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR005123 Oxoglu/Fe-dep_dioxygenase
    IPR006620 Pro_4_hyd_alph

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF13640 2OG-FeII_Oxy_3, 1 hit

    Simple Modular Architecture Research Tool; a protein domain database

    More...
    SMARTi
    View protein in SMART
    SM00702 P4Hc, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS51471 FE2OG_OXY, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative initiation. AlignAdd to basket

    This entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

    Isoform p43 (identifier: Q96KS0-1) [UniParc]FASTAAdd to basket
    Also known as: PHD1p43

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MDSPCQPQPL SQALPQLPGS SSEPLEPEPG RARMGVESYL PCPLLPSYHC
    60 70 80 90 100
    PGVPSEASAG SGTPRATATS TTASPLRDGF GGQDGGELRP LQSEGAAALV
    110 120 130 140 150
    TKGCQRLAAQ GARPEAPKRK WAEDGGDAPS PSKRPWARQE NQEAEREGGM
    160 170 180 190 200
    SCSCSSGSGE ASAGLMEEAL PSAPERLALD YIVPCMRYYG ICVKDSFLGA
    210 220 230 240 250
    ALGGRVLAEV EALKRGGRLR DGQLVSQRAI PPRSIRGDQI AWVEGHEPGC
    260 270 280 290 300
    RSIGALMAHV DAVIRHCAGR LGSYVINGRT KAMVACYPGN GLGYVRHVDN
    310 320 330 340 350
    PHGDGRCITC IYYLNQNWDV KVHGGLLQIF PEGRPVVANI EPLFDRLLIF
    360 370 380 390 400
    WSDRRNPHEV KPAYATRYAI TVWYFDAKER AAAKDKYQLA SGQKGVQVPV

    SQPPTPT
    Length:407
    Mass (Da):43,650
    Last modified:December 1, 2001 - v1
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF172E9B0482C9CF3
    GO
    Isoform p40 (identifier: Q96KS0-2) [UniParc]FASTAAdd to basket
    Also known as: PHD1p40

    The sequence of this isoform differs from the canonical sequence as follows:
         1-33: Missing.

    Show »
    Length:374
    Mass (Da):40,168
    Checksum:i228015782B7DE743
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    A0A0C4DGR4A0A0C4DGR4_HUMAN
    Egl nine homolog 2
    EGLN2
    125Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    M0R0Z6M0R0Z6_HUMAN
    Egl nine homolog 2
    EGLN2
    139Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    M0R1W4M0R1W4_HUMAN
    Egl nine homolog 2
    EGLN2
    72Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    M0QXR0M0QXR0_HUMAN
    Egl nine homolog 2
    EGLN2
    94Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    M0R110M0R110_HUMAN
    Egl nine homolog 2
    EGLN2
    101Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    M0QXM8M0QXM8_HUMAN
    Egl nine homolog 2
    EGLN2
    77Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    M0R035M0R035_HUMAN
    Egl nine homolog 2
    EGLN2
    87Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    M0R1L0M0R1L0_HUMAN
    Egl nine homolog 2
    EGLN2
    96Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    M0R350M0R350_HUMAN
    Egl nine homolog 2
    EGLN2
    128Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    M0R1A3M0R1A3_HUMAN
    Egl nine homolog 2
    EGLN2
    51Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    There is more potential isoformShow all

    <p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

    The sequence AAH01723 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti176R → P in AAK82943 (PubMed:11850811).Curated1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0388361 – 33Missing in isoform p40. CuratedAdd BLAST33

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    DDBJi
    Links Updated
    AJ310544 mRNA Translation: CAC42510.1
    AY040565 mRNA Translation: AAK82943.1
    AK291385 mRNA Translation: BAF84074.1
    AL832506 mRNA No translation available.
    AC008537 Genomic DNA No translation available.
    CH471126 Genomic DNA Translation: EAW57008.1
    BC001723 mRNA Translation: AAH01723.1 Different initiation.
    BC036051 mRNA Translation: AAH36051.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS12567.1 [Q96KS0-1]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_444274.1, NM_053046.3 [Q96KS0-1]
    NP_542770.2, NM_080732.3 [Q96KS0-1]

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.515417
    Hs.631539
    Hs.730737

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000303961; ENSP00000307080; ENSG00000269858 [Q96KS0-1]
    ENST00000406058; ENSP00000385253; ENSG00000269858 [Q96KS0-1]
    ENST00000593726; ENSP00000469686; ENSG00000269858 [Q96KS0-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    112398

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:112398

    UCSC genome browser

    More...
    UCSCi
    uc002opg.5 human [Q96KS0-1]

    Keywords - Coding sequence diversityi

    Alternative initiation

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AJ310544 mRNA Translation: CAC42510.1
    AY040565 mRNA Translation: AAK82943.1
    AK291385 mRNA Translation: BAF84074.1
    AL832506 mRNA No translation available.
    AC008537 Genomic DNA No translation available.
    CH471126 Genomic DNA Translation: EAW57008.1
    BC001723 mRNA Translation: AAH01723.1 Different initiation.
    BC036051 mRNA Translation: AAH36051.1
    CCDSiCCDS12567.1 [Q96KS0-1]
    RefSeqiNP_444274.1, NM_053046.3 [Q96KS0-1]
    NP_542770.2, NM_080732.3 [Q96KS0-1]
    UniGeneiHs.515417
    Hs.631539
    Hs.730737

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    5V1BX-ray2.49A167-403[»]
    ProteinModelPortaliQ96KS0
    SMRiQ96KS0
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi125184, 32 interactors
    CORUMiQ96KS0
    IntActiQ96KS0, 7 interactors
    MINTiQ96KS0
    STRINGi9606.ENSP00000307080

    Chemistry databases

    BindingDBiQ96KS0
    ChEMBLiCHEMBL3028
    DrugBankiDB04847 FG-4592
    DB00126 Vitamin C
    GuidetoPHARMACOLOGYi2832

    PTM databases

    iPTMnetiQ96KS0
    PhosphoSitePlusiQ96KS0

    Polymorphism and mutation databases

    BioMutaiEGLN2
    DMDMi32129513

    Proteomic databases

    MaxQBiQ96KS0
    PaxDbiQ96KS0
    PeptideAtlasiQ96KS0
    PRIDEiQ96KS0
    ProteomicsDBi77112
    77113 [Q96KS0-2]

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    112398
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000303961; ENSP00000307080; ENSG00000269858 [Q96KS0-1]
    ENST00000406058; ENSP00000385253; ENSG00000269858 [Q96KS0-1]
    ENST00000593726; ENSP00000469686; ENSG00000269858 [Q96KS0-1]
    GeneIDi112398
    KEGGihsa:112398
    UCSCiuc002opg.5 human [Q96KS0-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    112398
    DisGeNETi112398
    EuPathDBiHostDB:ENSG00000269858.5

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    EGLN2
    HGNCiHGNC:14660 EGLN2
    HPAiHPA056649
    MIMi606424 gene
    neXtProtiNX_Q96KS0
    OpenTargetsiENSG00000269858
    PharmGKBiPA27671

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG3710 Eukaryota
    ENOG410ZHZN LUCA
    GeneTreeiENSGT00940000160655
    HOGENOMiHOG000013099
    HOVERGENiHBG051456
    InParanoidiQ96KS0
    KOiK09592
    OMAiQDGGELW
    OrthoDBi1604981at2759
    PhylomeDBiQ96KS0
    TreeFamiTF314595

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000171570-MONOMER
    BRENDAi1.14.11.2 2681
    1.14.11.29 2681
    ReactomeiR-HSA-1234176 Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
    SIGNORiQ96KS0

    Miscellaneous databases

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...
    ChiTaRSi
    EGLN2 human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    EGLN2

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...
    GenomeRNAii
    112398

    Protein Ontology

    More...
    PROi
    PR:Q96KS0

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000269858 Expressed in 93 organ(s), highest expression level in testis
    ExpressionAtlasiQ96KS0 baseline and differential
    GenevisibleiQ96KS0 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR005123 Oxoglu/Fe-dep_dioxygenase
    IPR006620 Pro_4_hyd_alph
    PfamiView protein in Pfam
    PF13640 2OG-FeII_Oxy_3, 1 hit
    SMARTiView protein in SMART
    SM00702 P4Hc, 1 hit
    PROSITEiView protein in PROSITE
    PS51471 FE2OG_OXY, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEGLN2_HUMAN
    <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96KS0
    Secondary accession number(s): A8K5S0, Q8WWY4, Q9BV14
    <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 16, 2003
    Last sequence update: December 1, 2001
    Last modified: February 13, 2019
    This is version 163 of the entry and version 1 of the sequence. See complete history.
    <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    <p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    3. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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