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
//