Human Gene PHC2 (uc001bxg.1)
  Description: Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.
RefSeq Summary (NM_198040): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:33,789,224-33,841,194 Size: 51,971 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr1:33,790,466-33,841,140 Size: 50,675 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:33,789,224-33,841,194)mRNA (may differ from genome)Protein (858 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PHC2_HUMAN
DESCRIPTION: RecName: Full=Polyhomeotic-like protein 2; Short=hPH2; AltName: Full=Early development regulatory protein 2;
FUNCTION: Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility.
SUBUNIT: Component of a PRC1-like complex. Interacts with CBX4. Interacts with BMI1, PCGF2, PHC1 and RNF2 (By similarity). Interacts with N-terminal region of the SP1 transcription factor and with MAPKAPK2.
INTERACTION: Q96EZ8:MCRS1; NbExp=2; IntAct=EBI-713786, EBI-348259; P53350:PLK1; NbExp=2; IntAct=EBI-713786, EBI-476768; P08047:SP1; NbExp=2; IntAct=EBI-713786, EBI-298336;
SUBCELLULAR LOCATION: Nucleus.
DOMAIN: HD1 motif interacts with SAM domain of PHC1.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
MISCELLANEOUS: The hPRC-H complex purification reported by PubMed:12167701 probably presents a mixture of different PRC1-like complexes.
SIMILARITY: Contains 1 FCS-type zinc finger.
SIMILARITY: Contains 1 SAM (sterile alpha motif) domain.
SEQUENCE CAUTION: Sequence=AAH68573.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH92492.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAI13956.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PHC2
CDC HuGE Published Literature: PHC2
Positive Disease Associations: Prostatic Neoplasms
Related Studies:
  1. Prostatic Neoplasms
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: PHC2
Diseases sorted by gene-association score: conventional angiosarcoma (17), anus cancer (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 117.29 RPKM in Whole Blood
Total median expression: 1657.19 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.1054-0.261 Picture PostScript Text
3' UTR -513.211242-0.413 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR021129 - SAM_type1
IPR012313 - Znf_FCS

Pfam Domains:
PF00536 - SAM domain (Sterile alpha motif)
PF07647 - SAM domain (Sterile alpha motif)
PF16616 - Unstructured region on Polyhomeotic-like protein 1 and 2

SCOP Domains:
47769 - SAM/Pointed domain

ModBase Predicted Comparative 3D Structure on Q8IXK0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0042802 identical protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis

Cellular Component:
GO:0000792 heterochromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0031519 PcG protein complex
GO:0035102 PRC1 complex


-  Descriptions from all associated GenBank mRNAs
  AK056429 - Homo sapiens cDNA FLJ31867 fis, clone NT2RP7001856, highly similar to Polyhomeotic-like protein 2.
AJ419231 - Homo sapiens mRNA for polyhomeotic 2 (PHC2 gene).
BC130630 - Homo sapiens polyhomeotic homolog 2 (Drosophila), mRNA (cDNA clone MGC:163502 IMAGE:40146661), complete cds.
BC144121 - Homo sapiens polyhomeotic homolog 2 (Drosophila), mRNA (cDNA clone MGC:177658 IMAGE:9052641), complete cds.
AK292905 - Homo sapiens cDNA FLJ75506 complete cds, highly similar to Homo sapiens polyhomeotic-like 2 (Drosophila) (PHC2), transcript variant 1, mRNA.
AK294426 - Homo sapiens cDNA FLJ56430 complete cds, highly similar to Polyhomeotic-like protein 2.
AB527842 - Synthetic construct DNA, clone: pF1KB8490, Homo sapiens PHC2 gene for polyhomeotic homolog 2, without stop codon, in Flexi system.
BC110863 - Homo sapiens polyhomeotic homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:6138701), complete cds.
BC068573 - Homo sapiens polyhomeotic homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:30338747), partial cds.
BC092492 - Homo sapiens polyhomeotic homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:30330978), partial cds.
AK091856 - Homo sapiens cDNA FLJ34537 fis, clone HLUNG2008396.
AX747225 - Sequence 750 from Patent EP1308459.
BC015450 - Homo sapiens polyhomeotic homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:4428178), partial cds.
BC029269 - Homo sapiens polyhomeotic homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:3873946), complete cds.
AK128821 - Homo sapiens cDNA FLJ46105 fis, clone TESTI2026024, highly similar to Mus musculus early development regulator 2, polyhomeotic 2 protein.
BC028396 - Homo sapiens polyhomeotic homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:4797797), complete cds.
BC018602 - Homo sapiens polyhomeotic homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:3867224).
U89278 - Human polyhomeotic 2 homolog (HPH2) mRNA, complete cds.
BX537498 - Homo sapiens mRNA; cDNA DKFZp779C0759 (from clone DKFZp779C0759).
JD486570 - Sequence 467594 from Patent EP1572962.
JD167363 - Sequence 148387 from Patent EP1572962.
JD536865 - Sequence 517889 from Patent EP1572962.
JD045512 - Sequence 26536 from Patent EP1572962.
JD337175 - Sequence 318199 from Patent EP1572962.
JD386594 - Sequence 367618 from Patent EP1572962.
JD042020 - Sequence 23044 from Patent EP1572962.
JD144260 - Sequence 125284 from Patent EP1572962.
JD120485 - Sequence 101509 from Patent EP1572962.
JD113034 - Sequence 94058 from Patent EP1572962.
JD192448 - Sequence 173472 from Patent EP1572962.
JD145192 - Sequence 126216 from Patent EP1572962.
JD061297 - Sequence 42321 from Patent EP1572962.
JD427836 - Sequence 408860 from Patent EP1572962.
JD062533 - Sequence 43557 from Patent EP1572962.
JD459501 - Sequence 440525 from Patent EP1572962.
JD068658 - Sequence 49682 from Patent EP1572962.
JD286286 - Sequence 267310 from Patent EP1572962.
JD279472 - Sequence 260496 from Patent EP1572962.
JD191260 - Sequence 172284 from Patent EP1572962.
JD362969 - Sequence 343993 from Patent EP1572962.
JD258716 - Sequence 239740 from Patent EP1572962.
JD060600 - Sequence 41624 from Patent EP1572962.
JD064310 - Sequence 45334 from Patent EP1572962.
JD291258 - Sequence 272282 from Patent EP1572962.
JD358684 - Sequence 339708 from Patent EP1572962.
JD546167 - Sequence 527191 from Patent EP1572962.
JD540971 - Sequence 521995 from Patent EP1572962.
JD217432 - Sequence 198456 from Patent EP1572962.
JD373586 - Sequence 354610 from Patent EP1572962.
JD333890 - Sequence 314914 from Patent EP1572962.
KJ896745 - Synthetic construct Homo sapiens clone ccsbBroadEn_06139 PHC2 gene, encodes complete protein.
KJ905732 - Synthetic construct Homo sapiens clone ccsbBroadEn_15402 PHC2 gene, encodes complete protein.
JD337011 - Sequence 318035 from Patent EP1572962.
AJ242730 - Homo sapiens partial mRNA for polyhomeotic 2 protein (PH2 gene).

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8IXK0 (Reactome details) participates in the following event(s):

R-HSA-4551727 CBX4 SUMOylates CBX4 in PRC1 with SUMO1
R-HSA-4551655 CBX4 SUMOylates BMI1 in PRC1 with SUMO1
R-HSA-3229089 PRC1.4 complex binds H3K27Me3 nucleosomes on CDKN2A promoter
R-HSA-3229102 p-MAPKAPK3 phosphorylates BMI1
R-HSA-4570463 CBX4 (Pc2) SUMOylates CETN2 with SUMO2,3
R-HSA-4570499 CBX4 (Pc2) SUMOylates HNRNPK with SUMO2
R-HSA-8937989 RUNX1 binds PRC1 complexes
R-HSA-8943817 MECOM (EVI1) recruits polycomb repressor complexes (PRCs) to the PTEN gene promoter
R-HSA-4551638 SUMOylation of chromatin organization proteins
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteins
R-HSA-2559580 Oxidative Stress Induced Senescence
R-HSA-2990846 SUMOylation
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-4570464 SUMOylation of RNA binding proteins
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
R-HSA-8943724 Regulation of PTEN gene transcription
R-HSA-2559583 Cellular Senescence
R-HSA-597592 Post-translational protein modification
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-6807070 PTEN Regulation
R-HSA-2262752 Cellular responses to stress
R-HSA-392499 Metabolism of proteins
R-HSA-212436 Generic Transcription Pathway
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-74160 Gene expression (Transcription)
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A1L4Q1, D3DPR2, EDR2, NM_198040, NP_932157, PH2, PHC2_HUMAN, Q2TAL3, Q5T0C1, Q6NUJ6, Q6ZQR1, Q8IXK0, Q8N306, Q8TAG8, Q96BL4, Q9Y4Y7
UCSC ID: uc001bxg.1
RefSeq Accession: NM_198040
Protein: Q8IXK0 (aka PHC2_HUMAN)
CCDS: CCDS378.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_198040.2
exon count: 14CDS single in 3' UTR: no RNA size: 3873
ORF size: 2577CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5354.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.