LOCUS       NM_053208               2124 bp    mRNA    linear   ROD 05-DEC-2024
DEFINITION  Mus musculus egl-9 family hypoxia-inducible factor 2 (Egln2),
            transcript variant 1, mRNA.
ACCESSION   NM_053208
VERSION     NM_053208.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2124)
  AUTHORS   Germeys,C., Vandoorne,T., Davie,K., Poovathingal,S., Heeren,K.,
            Vermeire,W., Nami,F., Moisse,M., Quaegebeur,A., Sierksma,A.,
            Rue,L., Sicart,A., Eykens,C., De Cock,L., De Strooper,B.,
            Carmeliet,P., Van Damme,P., De Bock,K. and Van Den Bosch,L.
  TITLE     Targeting EGLN2/PHD1 protects motor neurons and normalizes the
            astrocytic interferon response
  JOURNAL   Cell Rep 43 (9), 114719 (2024)
   PUBMED   39255062
REFERENCE   2  (bases 1 to 2124)
  AUTHORS   Nolan,N.D., Cui,X., Robbings,B.M., Demirkol,A., Pandey,K., Wu,W.H.,
            Hu,H.F., Jenny,L.A., Lin,C.S., Hass,D.T., Du,J., Hurley,J.B. and
            Tsang,S.H.
  TITLE     CRISPR editing of anti-anemia drug target rescues independent
            preclinical models of retinitis pigmentosa
  JOURNAL   Cell Rep Med 5 (4), 101459 (2024)
   PUBMED   38518771
REFERENCE   3  (bases 1 to 2124)
  AUTHORS   Barnes,E.A., Ito,R., Che,X., Alvira,C.M. and Cornfield,D.N.
  TITLE     Loss of prolyl hydroxylase 1 and 2 in SM22alpha-expressing cells
            prevents Hypoxia-Induced pulmonary hypertension
  JOURNAL   Am J Physiol Lung Cell Mol Physiol 325 (6), L741-L755 (2023)
   PUBMED   37847687
  REMARK    GeneRIF: Loss of prolyl hydroxylase 1 and 2 in SM22alpha-expressing
            cells prevents Hypoxia-Induced pulmonary hypertension.
REFERENCE   4  (bases 1 to 2124)
  AUTHORS   Zhang,T., Xu,D., Liu,J., Wang,M., Duan,L.J., Liu,M., Meng,H.,
            Zhuang,Y., Wang,H., Wang,Y., Lv,M., Zhang,Z., Hu,J., Shi,L.,
            Guo,R., Xie,X., Liu,H., Erickson,E., Wang,Y., Yu,W., Dang,F.,
            Guan,D., Jiang,C., Dai,X., Inuzuka,H., Yan,P., Wang,J., Babuta,M.,
            Lian,G., Tu,Z., Miao,J., Szabo,G., Fong,G.H., Karnoub,A.E.,
            Lee,Y.R., Pan,L., Kaelin,W.G. Jr., Yuan,J. and Wei,W.
  TITLE     Prolonged hypoxia alleviates prolyl hydroxylation-mediated
            suppression of RIPK1 to promote necroptosis and inflammation
  JOURNAL   Nat Cell Biol 25 (7), 950-962 (2023)
   PUBMED   37400498
REFERENCE   5  (bases 1 to 2124)
  AUTHORS   Kennel,K.B., Burmeister,J., Radhakrishnan,P., Giese,N.A., Giese,T.,
            Salfenmoser,M., Gebhardt,J.M., Strowitzki,M.J., Taylor,C.T.,
            Wielockx,B., Schneider,M. and Harnoss,J.M.
  TITLE     The HIF-prolyl hydroxylases have distinct and nonredundant roles in
            colitis-associated cancer
  JOURNAL   JCI Insight 7 (22), e153337 (2022)
   PUBMED   36509284
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2124)
  AUTHORS   Mills,M., Yang,N., Weinberger,R., Vander Woude,D.L., Beggs,A.H.,
            Easteal,S. and North,K.
  TITLE     Differential expression of the actin-binding proteins,
            alpha-actinin-2 and -3, in different species: implications for the
            evolution of functional redundancy
  JOURNAL   Hum Mol Genet 10 (13), 1335-1346 (2001)
   PUBMED   11440986
REFERENCE   7  (bases 1 to 2124)
  AUTHORS   Tong,Z.B., Nelson,L.M. and Dean,J.
  TITLE     Mater encodes a maternal protein in mice with a leucine-rich repeat
            domain homologous to porcine ribonuclease inhibitor
  JOURNAL   Mamm Genome 11 (4), 281-287 (2000)
   PUBMED   10754103
REFERENCE   8  (bases 1 to 2124)
  AUTHORS   Keeney,D.S.
  TITLE     The novel skin-specific cytochrome P450 Cyp2b19 maps to proximal
            chromosome 7 in the mouse, near a cluster of Cyp2 family genes
  JOURNAL   Genomics 53 (3), 417-419 (1998)
   PUBMED   9799616
REFERENCE   9  (bases 1 to 2124)
  AUTHORS   Jaradat,S.A., Ko,M.S. and Grossman,L.I.
  TITLE     Tissue-specific expression and mapping of the Cox7ah gene in mouse
  JOURNAL   Genomics 49 (3), 363-370 (1998)
   PUBMED   9615220
  REMARK    Erratum:[Genomics 1998 Dec 15;54(3):583-4]
REFERENCE   10 (bases 1 to 2124)
  AUTHORS   Brady,K.P., Rowe,L.B., Her,H., Stevens,T.J., Eppig,J.,
            Sussman,D.J., Sikela,J. and Beier,D.R.
  TITLE     Genetic mapping of 262 loci derived from expressed sequences in a
            murine interspecific cross using single-strand conformational
            polymorphism analysis
  JOURNAL   Genome Res 7 (11), 1085-1093 (1997)
   PUBMED   9371744
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB248412.1, BC086764.1 and BE993075.1.
            
            On Apr 7, 2010 this sequence version replaced NM_053208.3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ310547.1, AK152056.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN01164131
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-61                CB248412.1         1-61
            62-2107             BC086764.1         1-2046
            2108-2124           BE993075.1         1-17                c
FEATURES             Location/Qualifiers
     source          1..2124
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 15.83 cM"
     gene            1..2124
                     /gene="Egln2"
                     /gene_synonym="0610011A13Rik; Hif-p4h-1; Ier4; Phd1;
                     SM-20"
                     /note="egl-9 family hypoxia-inducible factor 2"
                     /db_xref="GeneID:112406"
                     /db_xref="MGI:MGI:1932287"
     exon            1..119
                     /gene="Egln2"
                     /gene_synonym="0610011A13Rik; Hif-p4h-1; Ier4; Phd1;
                     SM-20"
                     /inference="alignment:Splign:2.1.0"
     exon            120..1228
                     /gene="Egln2"
                     /gene_synonym="0610011A13Rik; Hif-p4h-1; Ier4; Phd1;
                     SM-20"
                     /inference="alignment:Splign:2.1.0"
     CDS             350..1609
                     /gene="Egln2"
                     /gene_synonym="0610011A13Rik; Hif-p4h-1; Ier4; Phd1;
                     SM-20"
                     /EC_number="1.14.11.29"
                     /note="isoform 1 is encoded by transcript variant 1;
                     HPH-1; falkor; HIF-PH1; HIF-prolyl hydroxylase 1;
                     hypoxia-inducible factor prolyl hydroxylase 1; immediate
                     early response 4; prolyl hydroxylase domain-containing
                     protein 1; prolyl hydroxylase EGLN2"
                     /codon_start=1
                     /product="prolyl hydroxylase EGLN2 isoform 1"
                     /protein_id="NP_444438.2"
                     /db_xref="CCDS:CCDS21011.1"
                     /db_xref="GeneID:112406"
                     /db_xref="MGI:MGI:1932287"
                     /translation="MDSPCQPQALNQALPQLPGSVSESLESSRARMGVESYLPCPLLP
                     AYHRPGASGEASAGNGTPRTTATATTTTASPLREGFGGQDGGELWPLQSEGAAALVTK
                     ECQRLAAQGARPEAPKRKWAKDGGDAPSPSKRPWARQENQEAKGESGMGCDSGASNSS
                     SSSSNTTSSSGEASARLREEVQPSAPERLALDYIVPCMRYYGICVKDNFLGAVLGGRV
                     LAEVEALKWGGRLRDGQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVI
                     RHCAGRLGNYVINGRTKAMVACYPGNGLGYVRHVDNPHGDGRCITCIYYLNQNWDVKV
                     HGGLLQIFPEGRPVVANIEPLFDRLLIFWSDRRNPHEVKPAYATRYAITVWYFDAKER
                     AAARDKYQLASGQKGVQVPVSQPTTPT"
     exon            1229..1348
                     /gene="Egln2"
                     /gene_synonym="0610011A13Rik; Hif-p4h-1; Ier4; Phd1;
                     SM-20"
                     /inference="alignment:Splign:2.1.0"
     exon            1349..1485
                     /gene="Egln2"
                     /gene_synonym="0610011A13Rik; Hif-p4h-1; Ier4; Phd1;
                     SM-20"
                     /inference="alignment:Splign:2.1.0"
     exon            1486..1553
                     /gene="Egln2"
                     /gene_synonym="0610011A13Rik; Hif-p4h-1; Ier4; Phd1;
                     SM-20"
                     /inference="alignment:Splign:2.1.0"
     exon            1554..2107
                     /gene="Egln2"
                     /gene_synonym="0610011A13Rik; Hif-p4h-1; Ier4; Phd1;
                     SM-20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2083..2088
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Egln2"
                     /gene_synonym="0610011A13Rik; Hif-p4h-1; Ier4; Phd1;
                     SM-20"
                     /note="hexamer: AATAAA"
     polyA_site      2107
                     /gene="Egln2"
                     /gene_synonym="0610011A13Rik; Hif-p4h-1; Ier4; Phd1;
                     SM-20"
                     /note="major polyA site"
ORIGIN      
        1 tgcccagcgg gcgaggcggg ggcggggcgt cgcgggcggt ggggggcggg gtatggcgcg
       61 ctgcgaagcg cagggcggct ggcacaaacg gcggcgccga ggccggagga aaaagctcgc
      121 cacccccatc agtcccttct caagctccta gagacaactg tggacttggg gaccagcgag
      181 cacccccaga gcactagagg agcccctgct gcctgccctg cctcaccctg ccccacacga
      241 ggcccagcgg ccccgggctg catcaagtgg aggaggagga ggcggaggag ggtggcacca
      301 tgggcccggg ccgtgccctc catgcccggg ggatgaagac actgctgcca tggacagccc
      361 gtgccagccg caggccctga atcaagctct ccctcagttg ccagggtctg tgtcagagtc
      421 cttggagtct agccgagcca gaatgggggt ggagagttac ctgccctgcc ctctgctccc
      481 ggcctatcac cgtccaggag catctgggga ggcctcggct ggcaatggga cccccagaac
      541 cacagccact gctactacga ccactgccag tcccctgcgg gagggctttg gtgggcagga
      601 tggtggtgag ctttggccac tgcagagtga aggtgctgct gcgttggtca ccaaggagtg
      661 ccagcgactg gcggcccagg gtgcccggcc tgaggccccc aaacggaagt gggccaagga
      721 tggtggggat gccccttcac ccagcaagcg accgtgggcc aggcaagaga accaggaggc
      781 caagggggaa agtggtatgg gctgtgacag cggtgccagc aacagcagca gcagcagcag
      841 caacactacc agtagcagtg gcgaggcaag tgctaggctg agggaggaag tccagccctc
      901 tgcacctgag cgcctggccc tggactatat tgtgccttgc atgcggtact atggtatctg
      961 tgtcaaggac aacttcttgg gggcagtact gggtggccgt gtgctggctg aggtggaagc
     1021 cctgaagtgg ggcgggcgtc ttcgtgatgg gcaactagtg agccagcggg cgatcccacc
     1081 gcgcagcatt cgtggggacc agattgcctg ggtagaaggt cacgagccag gctgccggag
     1141 cattggtgcc ctcatggctc acgtggacgc agtaatccgc cactgtgcag ggcggctggg
     1201 caactacgtc atcaatgggc gcaccaaggc catggtggcg tgttatccag gcaatgggct
     1261 cgggtacgtg aggcatgttg acaatcccca cggcgatggg cgctgcatca cctgtatcta
     1321 ttacctgaat cagaactggg atgttaaggt gcatggcggc ctgctgcaga tcttccccga
     1381 gggtcggcca gtggtagcca acatcgagcc actctttgac cggttgctca ttttctggtc
     1441 tgaccgacgg aacccacatg aggtgaagcc agcctatgcc accaggtacg ccatcactgt
     1501 ctggtatttt gatgccaagg aacgggcagc agccagagac aagtatcagc tagcatcggg
     1561 acagaaaggt gttcaagtac cagtatcaca gccaactaca cctacctaat ggccagcccc
     1621 agagctgcgt ggaccagcag cagctcctgc ctcagtgccc gctcctttcc tgccactgct
     1681 gctgcttctg gcttgcctct gtactgtgtg gtgtggaggg cactaagtat cactgaggag
     1741 caacaaggag agacctctgc tgccccgtga gcgagcggtg ctgggttttg acctgggcag
     1801 tggccagtgt ggctggcggt catgactggt ggctgtgtct ggtccgttga gtgtagagct
     1861 gagaagaggc aggatttggg gttgaggtga gtcatggcct cttgctggaa aggtgtgttg
     1921 gggtgtgggt gtcatctcac cctcgtcccc actcctccgg cctggaatgt gaagtgactc
     1981 cccagcccct ttggctgtgg cagtgtatgg actgggctgc cactgtctgg gcagagtagg
     2041 gtgccatgac gagcatgggt atggaggttc tgccagccaa gaaataaaag tttacctcag
     2101 agctgcaaaa aaaaaaaaaa aaaa
//
