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Homo sapiens polyhomeotic homolog 2 (PHC2), transcript variant 2, mRNA

NCBI Reference Sequence: NM_004427.4

FASTA Graphics 

LOCUS       NM_004427               2564 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens polyhomeotic homolog 2 (PHC2), transcript variant 2,
            mRNA.
ACCESSION   NM_004427
VERSION     NM_004427.4
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2564)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2564)
  AUTHORS   Freire-Beneitez,V., Pomella,N., Millner,T.O., Dumas,A.A.,
            Niklison-Chirou,M.V., Maniati,E., Wang,J., Rajeeve,V., Cutillas,P.
            and Marino,S.
  TITLE     Elucidation of the BMI1 interactome identifies novel regulatory
            roles in glioblastoma
  JOURNAL   NAR Cancer 3 (1), zcab009 (2021)
   PUBMED   34316702
  REMARK    Erratum:[NAR Cancer. 2021 May 25;3(2):zcab020. doi:
            10.1093/narcan/zcab020. PMID: 34319293]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2564)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2564)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2564)
  AUTHORS   Gray,F., Cho,H.J., Shukla,S., He,S., Harris,A., Boytsov,B.,
            Jaremko,L., Jaremko,M., Demeler,B., Lawlor,E.R., Grembecka,J. and
            Cierpicki,T.
  TITLE     BMI1 regulates PRC1 architecture and activity through homo- and
            hetero-oligomerization
  JOURNAL   Nat Commun 7, 13343 (2016)
   PUBMED   27827373
  REMARK    GeneRIF: Interaction of BMI1 with polyhomeotic protein PHC2 and
            homo-oligomerization via ubiquitin-like domain are necessary for
            H2A ubiquitination activity of PRC1 and for clonogenic potential of
            U2OS cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2564)
  AUTHORS   Tonkin,E., Hagan,D.M., Li,W. and Strachan,T.
  TITLE     Identification and characterisation of novel mammalian homologues
            of Drosophila polyhomeoticpermits new insights into relationships
            between members of the polyhomeotic family
  JOURNAL   Hum Genet 111 (4-5), 435-442 (2002)
   PUBMED   12384788
REFERENCE   7  (bases 1 to 2564)
  AUTHORS   Levine,S.S., Weiss,A., Erdjument-Bromage,H., Shao,Z., Tempst,P. and
            Kingston,R.E.
  TITLE     The core of the polycomb repressive complex is compositionally and
            functionally conserved in flies and humans
  JOURNAL   Mol Cell Biol 22 (17), 6070-6078 (2002)
   PUBMED   12167701
REFERENCE   8  (bases 1 to 2564)
  AUTHORS   Gunther,M., Laithier,M. and Brison,O.
  TITLE     A set of proteins interacting with transcription factor Sp1
            identified in a two-hybrid screening
  JOURNAL   Mol Cell Biochem 210 (1-2), 131-142 (2000)
   PUBMED   10976766
REFERENCE   9  (bases 1 to 2564)
  AUTHORS   Satijn,D.P., Gunster,M.J., van der Vlag,J., Hamer,K.M., Schul,W.,
            Alkema,M.J., Saurin,A.J., Freemont,P.S., van Driel,R. and Otte,A.P.
  TITLE     RING1 is associated with the polycomb group protein complex and
            acts as a transcriptional repressor
  JOURNAL   Mol Cell Biol 17 (7), 4105-4113 (1997)
   PUBMED   9199346
REFERENCE   10 (bases 1 to 2564)
  AUTHORS   Gunster,M.J., Satijn,D.P., Hamer,K.M., den Blaauwen,J.L., de
            Bruijn,D., Alkema,M.J., van Lohuizen,M., van Driel,R. and Otte,A.P.
  TITLE     Identification and characterization of interactions between the
            vertebrate polycomb-group protein BMI1 and human homologs of
            polyhomeotic
  JOURNAL   Mol Cell Biol 17 (4), 2326-2335 (1997)
   PUBMED   9121482
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL513327.34, CD109667.1 and
            BC018602.1.
            
            On Jun 2, 2019 this sequence version replaced NM_004427.3.
            
            Summary: In Drosophila melanogaster, the 'Polycomb' group (PcG) of
            genes are part of a cellular memory system that is responsible for
            the stable inheritance of gene activity. PcG proteins form a large
            multimeric, chromatin-associated protein complex. The protein
            encoded by this gene has homology to the Drosophila PcG protein
            'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and
            colocalize with BMI1 in interphase nuclei of human cells. The
            specific function in human cells has not yet been determined. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            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 :: BC029269.1, U89278.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AL513327.34        147729-147729       c
            2-182               CD109667.1         18-198
            183-2564            BC018602.1         188-2569
FEATURES             Location/Qualifiers
     source          1..2564
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.1"
     gene            1..2564
                     /gene="PHC2"
                     /gene_synonym="EDR2; HPH2; PH2"
                     /note="polyhomeotic homolog 2"
                     /db_xref="GeneID:1912"
                     /db_xref="HGNC:HGNC:3183"
                     /db_xref="MIM:602979"
     exon            1..303
                     /gene="PHC2"
                     /gene_synonym="EDR2; HPH2; PH2"
                     /inference="alignment:Splign:2.1.0"
     exon            304..506
                     /gene="PHC2"
                     /gene_synonym="EDR2; HPH2; PH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             354..1325
                     /gene="PHC2"
                     /gene_synonym="EDR2; HPH2; PH2"
                     /note="isoform b is encoded by transcript variant 2; early
                     development regulator 2 (homolog of polyhomeotic 2);
                     polyhomeotic-like protein 2; early development regulatory
                     protein 2; polyhomeotic-like 2"
                     /codon_start=1
                     /product="polyhomeotic-like protein 2 isoform b"
                     /protein_id="NP_004418.2"
                     /db_xref="CCDS:CCDS379.1"
                     /db_xref="GeneID:1912"
                     /db_xref="HGNC:HGNC:3183"
                     /db_xref="MIM:602979"
                     /translation="MTSGNGNSASSIAGTAPQNGENKPPQAIVKPQILTHVIEGFVIQ
                     EGAEPFPVGRSSLLVGNLKKKYAQGFLPEKLPQQDHTTTTDSEMEEPYLQESKEEGAP
                     LKLKCELCGRVDFAYKFKRSKRFCSMACAKRYNVGCTKRVGLFHSDRSKLQKAGAATH
                     NRRRASKASLPPLTKDTKKQPTGTVPLSVTAALQLTHSQEDSSRCSDNSSYEEPLSPI
                     SASSSTSRRRQGQRDLELPDMHMRDLVGMGHHFLPSEPTKWNVEDVYEFIRSLPGCQE
                     IAEEFRAQEIDGQALLLLKEDHLMSAMNIKLGPALKIYARISMLKDS"
     exon            507..636
                     /gene="PHC2"
                     /gene_synonym="EDR2; HPH2; PH2"
                     /inference="alignment:Splign:2.1.0"
     exon            637..751
                     /gene="PHC2"
                     /gene_synonym="EDR2; HPH2; PH2"
                     /inference="alignment:Splign:2.1.0"
     exon            752..893
                     /gene="PHC2"
                     /gene_synonym="EDR2; HPH2; PH2"
                     /inference="alignment:Splign:2.1.0"
     exon            894..1170
                     /gene="PHC2"
                     /gene_synonym="EDR2; HPH2; PH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..2564
                     /gene="PHC2"
                     /gene_synonym="EDR2; HPH2; PH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2546..2551
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHC2"
                     /gene_synonym="EDR2; HPH2; PH2"
                     /note="hexamer: AATAAA"
     polyA_site      2564
                     /gene="PHC2"
                     /gene_synonym="EDR2; HPH2; PH2"
                     /note="major polyA site"
ORIGIN      
        1 gcattgtctc cgcggcggct gcagccctcg agcgcccgcc gcgcgcgcgc gcgcaacccc
       61 ggccgccgcc cgcgctcccg ccccggcctc gcgcccccgt cccggcctcg cgccccggcc
      121 gccctttgtt gacgccggcc aggccggtgc ggtcggatgc gccgcggcag ccccgggccc
      181 cggctcggag gctcccggcg gagaggaggc ggcccgcccg ggcccgggac cccgcgcgag
      241 tcggcgcccg gccgaggggc tgcgtaggcc ccgcccggcc aggcccagcc gggccctgga
      301 cagagacagg gcagggcatt gttcatgcac tgaccgacct cagcagcccc ggcatgacct
      361 cagggaacgg aaactctgcc tccagcatcg ccggcactgc cccccagaat ggtgagaata
      421 aaccaccaca ggccattgtg aaaccccaaa tcctgacgca tgttatcgaa gggtttgtga
      481 tccaggaggg ggcggagcct ttcccggtgg gacgctcgtc cctgctggtg gggaatctca
      541 agaagaagta tgcacagggg ttcctgcctg agaaacttcc acagcaggat cacaccacca
      601 ccactgactc ggagatggag gagccctatc tgcaagaatc caaagaggag ggtgctcccc
      661 tcaaactcaa gtgtgagctc tgtggccggg tggactttgc ctataagttc aagcgttcca
      721 agcgcttctg ttccatggct tgtgcaaaga ggtacaacgt gggatgcacc aaacgggtgg
      781 gacttttcca ctcagaccgg agcaagctgc agaaggcagg agctgcgacc cacaaccgcc
      841 gtcgggccag caaagccagt ctgccaccac ttaccaagga taccaagaag cagccaacag
      901 gcactgtgcc cctttcggtt actgctgctt tgcagctaac acacagccag gaagactcca
      961 gccgttgctc agataactca agctatgagg aacccttgtc acccatctca gccagctcat
     1021 ctacttcccg ccggcgacaa ggccagcggg acctggagct ccccgacatg catatgcggg
     1081 acctggtggg catgggacac cacttcctgc caagtgagcc caccaagtgg aatgtagaag
     1141 acgtctacga attcatccgc tctctgccag gctgccagga gatagcagag gaattccgtg
     1201 cccaggaaat cgacgggcaa gccctgctgc tgctcaagga ggaccacctg atgagcgcca
     1261 tgaacatcaa gctggggccc gccctgaaga tctacgcccg catcagcatg ctcaaggact
     1321 cctagggctg gtggcagcca ggattctggc ccagggcgcc tcctcccgac tgagcagagc
     1381 cagacagaca ttcctgaggg gcccagaaat ggggccggtt ggagggcagg ggctctccct
     1441 aggggcatag ctggtgagga ggtctgggca cctcctccat ggctctcagg ggcctttcat
     1501 ttctgtggga ggggcagaga ggtaggtggc acagaagatg gggctttatg cttgtaaata
     1561 ttgatagcac tggcttcctc caaagtccca atactctagc cccgctctct tcccctcttt
     1621 ctgtccccca ttttccaggg ggtatatggt cagggctccc caacctgagt tgggttactt
     1681 caagggcagc cagcaggcct ggatggaggc ctagaaagcc cttgccttcc ttcctcccac
     1741 ttctttctcc aggcctggtt aactcttccg ttgtcagctt ctcccccttc agcctgtttc
     1801 tgcagcagcc agggttctcc cccctacacc ctctgcaggt ggagagagag aagctgggcc
     1861 cagccgggcc gtgcctgctg gcacagacgc cttaacgctg tgtgtatgac tgtgtgactg
     1921 tgtgggagcc tggactgaca gataggccaa gggctactct ctggcatctc caggtgtttt
     1981 gtagcaaaca gccacttagt gctttgtcct ggactccact cagcctcagg atggggaata
     2041 gccaagaatg gcagcctcag cgcagaggca aggtcagaaa gagacggcgc ttcagagttt
     2101 cctttccaga cacccctccc cgcactgtga agttcccctg accgccctcc tggttcacaa
     2161 agagcattaa gaaagctgcg gtggtctgag caacatagcc caaagggctg agcctcctgg
     2221 cctgcctgcc cgcccaccct gggagtccca gtggtgaggc tcagagaact gctaagggga
     2281 aagaacagct ggagtttctg ttgatgtgaa gaaggcagct cttggcctcc cactcccaca
     2341 cttctttgcc tataaatctt cctagcagca atttgagcta cctgaggagg aggcagggca
     2401 gaaagggcga gggcctgcct ctgacctgcc gtgtcctttg caggaaggag gtaggcacct
     2461 ttctgagctt attctattcc ccacccacac ccccaggcag ggttggaaat gaaggacttt
     2521 tttaaccttt gttttgtttt ttaaaaataa atctgtaaaa tctg
//
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