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    Egln2 egl-9 family hypoxia-inducible factor 2 [ Mus musculus (house mouse) ]

    Gene ID: 112406, updated on 9-Dec-2024

    Summary

    Official Symbol
    Egln2provided by MGI
    Official Full Name
    egl-9 family hypoxia-inducible factor 2provided by MGI
    Primary source
    MGI:MGI:1932287
    See related
    Ensembl:ENSMUSG00000058709 AllianceGenome:MGI:1932287
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ier4; Phd1; SM-20; Hif-p4h-1; 0610011A13Rik
    Summary
    Predicted to enable ferrous iron binding activity; oxygen sensor activity; and peptidyl-proline 4-dioxygenase activity. Predicted to be involved in several processes, including cell redox homeostasis; cellular response to hypoxia; and peptidyl-proline hydroxylation to 4-hydroxy-L-proline. Predicted to be located in nucleoplasm. Predicted to be active in cytoplasm and nucleus. Is expressed in brain; cerebral cortex; hippocampus; and olfactory epithelium. Human ortholog(s) of this gene implicated in renal cell carcinoma. Orthologous to human EGLN2 (egl-9 family hypoxia inducible factor 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 271.8), adrenal adult (RPKM 57.2) and 27 other tissues See more
    Orthologs
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    Genomic context

    See Egln2 in Genome Data Viewer
    Location:
    7 A3; 7 15.83 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (26858083..26866227, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (27158658..27166802, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene cytochrome P450, family 2, subfamily f, polypeptide 2 Neighboring gene STARR-seq mESC enhancer starr_18343 Neighboring gene cytochrome P450, family 2, subfamily t, polypeptide 4 Neighboring gene STARR-positive B cell enhancer mm9_chr7:27952094-27952395 Neighboring gene RAB4B, member RAS oncogene family Neighboring gene STARR-positive B cell enhancers ABC_E1725 and ABC_E288 Neighboring gene microRNA 3101 Neighboring gene MIA SH3 domain containing

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (5)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC101954

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 2-oxoglutarate-dependent dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables 2-oxoglutarate-dependent dioxygenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ferrous iron binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ferrous iron binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ferrous iron binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables hypoxia-inducible factor-proline dioxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxygen sensor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables oxygen sensor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables peptidyl-proline 4-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peptidyl-proline 4-dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables peptidyl-proline 4-dioxygenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cell redox homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell redox homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to hypoxia IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in peptidyl-proline hydroxylation to 4-hydroxy-L-proline ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in peptidyl-proline hydroxylation to 4-hydroxy-L-proline ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of neuron apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to hypoxia ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    prolyl hydroxylase EGLN2
    Names
    HIF-PH1
    HIF-prolyl hydroxylase 1
    HPH-1
    falkor
    hypoxia-inducible factor prolyl hydroxylase 1
    immediate early response 4
    prolyl hydroxylase domain-containing protein 1
    NP_001344696.1
    NP_444438.2
    XP_030097849.1
    XP_030097850.1
    XP_030097851.1
    XP_036008464.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001357767.1NP_001344696.1  prolyl hydroxylase EGLN2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC157553
      Conserved Domains (1) summary
      smart00702
      Location:172266
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    2. NM_053208.4NP_444438.2  prolyl hydroxylase EGLN2 isoform 1

      See identical proteins and their annotated locations for NP_444438.2

      Status: VALIDATED

      Source sequence(s)
      BC086764, BE993075, CB248412
      Consensus CDS
      CCDS21011.1
      UniProtKB/Swiss-Prot
      Q8C6I4, Q8CIL9, Q8VHJ1, Q91YE2, Q99MI0
      UniProtKB/TrEMBL
      Q3TXL8, Q3U8V5, Q80X29
      Related
      ENSMUSP00000078966.5, ENSMUST00000080058.11
      Conserved Domains (1) summary
      smart00702
      Location:217387
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      26858083..26866227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030241990.1XP_030097850.1  prolyl hydroxylase EGLN2 isoform X2

      Conserved Domains (1) summary
      smart00702
      Location:172266
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    2. XM_030241991.1XP_030097851.1  prolyl hydroxylase EGLN2 isoform X2

      Conserved Domains (1) summary
      smart00702
      Location:172266
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    3. XM_030241989.1XP_030097849.1  prolyl hydroxylase EGLN2 isoform X1

      UniProtKB/Swiss-Prot
      Q8C6I4, Q8CIL9, Q8VHJ1, Q91YE2, Q99MI0
      UniProtKB/TrEMBL
      Q3TXL8, Q3U8V5, Q80X29
      Related
      ENSMUSP00000104019.2, ENSMUST00000108382.2
      Conserved Domains (1) summary
      smart00702
      Location:217387
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    4. XM_036152571.1XP_036008464.1  prolyl hydroxylase EGLN2 isoform X1

      UniProtKB/Swiss-Prot
      Q8C6I4, Q8CIL9, Q8VHJ1, Q91YE2, Q99MI0
      UniProtKB/TrEMBL
      Q3TXL8, Q3U8V5, Q80X29
      Conserved Domains (1) summary
      smart00702
      Location:217387
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues