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Aliases for PHC2 Gene

Aliases for PHC2 Gene

  • Polyhomeotic Homolog 2 2 3 5
  • Early Development Regulator 2 (Homolog Of Polyhomeotic 2) 2 3
  • Early Development Regulatory Protein 2 3 4
  • HPH2 3 4
  • EDR2 3 4
  • PH2 3 4
  • Polyhomeotic Homolog 2 (Drosophila) 2
  • Polyhomeotic-Like 2 (Drosophila) 2
  • Polyhomeotic-Like Protein 2 3
  • Polyhomeotic-Like 2 3
  • Polyhomeotic 2 3

External Ids for PHC2 Gene

Previous HGNC Symbols for PHC2 Gene

  • EDR2

Previous GeneCards Identifiers for PHC2 Gene

  • GC01M032845
  • GC01M033215
  • GC01M033291
  • GC01M033458
  • GC01M033561
  • GC01M033789
  • GC01M031905
  • GC01M033325
  • GC01M033326
  • GC01M033328
  • GC01M033329
  • GC01M033330
  • GC01M033331

Summaries for PHC2 Gene

Entrez Gene Summary for PHC2 Gene

  • 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]

GeneCards Summary for PHC2 Gene

PHC2 (Polyhomeotic Homolog 2) is a Protein Coding gene. Diseases associated with PHC2 include Conventional Angiosarcoma. Among its related pathways are Cellular Senescence (REACTOME) and SUMOylation. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and identical protein binding. An important paralog of this gene is PHC3.

UniProtKB/Swiss-Prot for PHC2 Gene

  • 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.

Gene Wiki entry for PHC2 Gene

Additional gene information for PHC2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHC2 Gene

Genomics for PHC2 Gene

GeneHancer (GH) Regulatory Elements for PHC2 Gene

Promoters and enhancers for PHC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J033336 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 687.7 +87.3 87316 15.1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZNF610 GLIS1 NBN PHC2 PIR53170 S100PBP A3GALT2 RBBP4 ENSG00000225313 FAM229A TRIM62 ZSCAN20 ENSG00000270115
GH01J033429 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 661.7 +0.4 374 2.1 ARNT SIN3A ZNF48 GLIS2 ELK1 ZNF143 FOS NFYC REST MBD2 PHC2 A3GALT2 GC01M033423 GC01P033403
GH01J033361 Enhancer 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 15.6 +66.4 66350 7 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZNF766 ZNF416 ZNF143 DEK ZBTB8A RBBP4 ZSCAN20 S100PBP BSDC1 PHC2 CSMD2-AS1 ZBTB8B CSMD2 ZBTB8OS
GH01J033330 Enhancer 1.2 Ensembl ENCODE dbSUPER 25.8 +98.1 98134 5.8 ARID4B THRB ZNF48 RARA YY1 CREM RXRA SP5 REST NR2F2 MIR3605 PHC2 A3GALT2 ENSG00000225313 TRIM62 RN7SKP16
GH01J033381 Enhancer 1.1 Ensembl ENCODE dbSUPER 26.7 +47.5 47527 4 TFAP4 PKNOX1 MAX CEBPG TEAD3 FOSL1 ZNF335 ZBTB48 FOS TEAD1 PHC2 A3GALT2 TRIM62 GC01M033371 LOC101929464
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PHC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PHC2 gene promoter:
  • NF-1
  • CUTL1
  • Sox9
  • POU3F2
  • C/EBPbeta
  • p53
  • NF-1/L
  • LUN-1

Genomic Locations for PHC2 Gene

Genomic Locations for PHC2 Gene
chr1:33,323,623-33,431,052
(GRCh38/hg38)
Size:
107,430 bases
Orientation:
Minus strand
chr1:33,789,224-33,896,653
(GRCh37/hg19)
Size:
107,430 bases
Orientation:
Minus strand

Genomic View for PHC2 Gene

Genes around PHC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHC2 Gene

Proteins for PHC2 Gene

  • Protein details for PHC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXK0-PHC2_HUMAN
    Recommended name:
    Polyhomeotic-like protein 2
    Protein Accession:
    Q8IXK0
    Secondary Accessions:
    • A1L4Q1
    • A8KA40
    • D3DPR2
    • Q2TAL3
    • Q5T0C1
    • Q6NUJ6
    • Q6ZQR1
    • Q8N306
    • Q8TAG8
    • Q96BL4
    • Q9Y4Y7

    Protein attributes for PHC2 Gene

    Size:
    858 amino acids
    Molecular mass:
    90713 Da
    Quaternary structure:
    • Component of a PRC1-like complex (PubMed:12167701, PubMed:15386022, PubMed:19636380, PubMed:21282530). Interacts with CBX4 (PubMed:21282530). Interacts with BMI1, PCGF2, PHC1 and RNF2 (PubMed:9121482, PubMed:9199346, PubMed:12167701). Interacts with CHTOP (By similarity). Interacts with the N-terminal region of the SP1 transcription factor and with MAPKAPK2 (PubMed:10976766, PubMed:15094067).
    Miscellaneous:
    • The hPRC-H complex purification reported by PubMed:12167701 probably presents a mixture of different PRC1-like complexes.
    SequenceCaution:
    • Sequence=AAH68573.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH92492.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAI13956.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PHC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHC2 Gene

Post-translational modifications for PHC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PHC2 Gene

No data available for DME Specific Peptides for PHC2 Gene

Domains & Families for PHC2 Gene

Gene Families for PHC2 Gene

Protein Domains for PHC2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IXK0

UniProtKB/Swiss-Prot:

PHC2_HUMAN :
  • HD1 motif interacts with SAM domain of PHC1.
Domain:
  • HD1 motif interacts with SAM domain of PHC1.
genes like me logo Genes that share domains with PHC2: view

Function for PHC2 Gene

Molecular function for PHC2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for PHC2 Gene

Gene Ontology (GO) - Molecular Function for PHC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI,IEA 10976766
GO:0008270 zinc ion binding IEA --
GO:0042802 identical protein binding IPI 16169070
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PHC2: view
genes like me logo Genes that share phenotypes with PHC2: view

Animal Models for PHC2 Gene

MGI Knock Outs for PHC2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHC2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PHC2 Gene

Localization for PHC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHC2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHC2 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PHC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000792 heterochromatin IEA --
GO:0005634 nucleus IEA,IDA 21282530
GO:0005654 nucleoplasm TAS,IDA --
GO:0031519 PcG protein complex IEA,IDA 21282530
GO:0035102 PRC1 complex IDA 12167701
genes like me logo Genes that share ontologies with PHC2: view

Pathways & Interactions for PHC2 Gene

genes like me logo Genes that share pathways with PHC2: view

Gene Ontology (GO) - Biological Process for PHC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with PHC2: view

No data available for SIGNOR curated interactions for PHC2 Gene

Drugs & Compounds for PHC2 Gene

No Compound Related Data Available

Transcripts for PHC2 Gene

mRNA/cDNA for PHC2 Gene

Unigene Clusters for PHC2 Gene

Polyhomeotic homolog 2 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHC2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHC2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c · 20d ^
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - - - -
SP7:
SP8:
SP9:
SP10: - -
SP11: -
SP12: -
SP13:
SP14:
SP15: - -

ExUns: 21 ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25a · 25b
SP1: - - -
SP2: - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for PHC2 Gene

GeneLoc Exon Structure for
PHC2
ECgene alternative splicing isoforms for
PHC2

Expression for PHC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHC2 Gene

This gene is overexpressed in Whole Blood (x9.3).

Protein differential expression in normal tissues from HIPED for PHC2 Gene

This gene is overexpressed in Retina (19.7), Fetal heart (7.9), Peripheral blood mononuclear cells (6.7), and Pancreas (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PHC2 Gene



Protein tissue co-expression partners for PHC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PHC2 Gene:

PHC2

SOURCE GeneReport for Unigene cluster for PHC2 Gene:

Hs.524271

Evidence on tissue expression from TISSUES for PHC2 Gene

  • Nervous system(4.9)
  • Eye(4.6)
  • Skin(3.9)
  • Lung(3.5)
  • Pancreas(3.2)
  • Intestine(2.7)
genes like me logo Genes that share expression patterns with PHC2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PHC2 Gene

Orthologs for PHC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHC2 34 33
  • 99.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PHC2 34 33
  • 91.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PHC2 34 33
  • 90.91 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phc2 33
  • 87.48 (n)
mouse
(Mus musculus)
Mammalia Phc2 16 34 33
  • 86.75 (n)
oppossum
(Monodelphis domestica)
Mammalia PHC2 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHC2 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHC2 34 33
  • 76.94 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHC2 34
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii phc2a 34 33
  • 58.79 (n)
OneToMany
phc2b 34
  • 47 (a)
OneToMany
edr2 33
fruit fly
(Drosophila melanogaster)
Insecta ph-d 34
  • 13 (a)
ManyToMany
ph-p 34
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
OneToMany
Species where no ortholog for PHC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PHC2 Gene

ENSEMBL:
Gene Tree for PHC2 (if available)
TreeFam:
Gene Tree for PHC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PHC2: view image

Paralogs for PHC2 Gene

Paralogs for PHC2 Gene

(4) SIMAP similar genes for PHC2 Gene using alignment to 5 proteins:

  • PHC2_HUMAN
  • A8KA40_HUMAN
  • B3KPJ4_HUMAN
  • B7ZLY0_HUMAN
  • C9J3D2_HUMAN
genes like me logo Genes that share paralogs with PHC2: view

Variants for PHC2 Gene

Sequence variations from dbSNP and Humsavar for PHC2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000021276 -- 33,330,841(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000034975 -- 33,324,358(-) A/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000074697 -- 33,375,287(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000086727 -- 33,324,102(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000103987 -- 33,333,162(-) T/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PHC2 Gene

Variant ID Type Subtype PubMed ID
esv1384773 CNV insertion 17803354
esv2658876 CNV deletion 23128226
esv3585684 CNV loss 21293372
nsv1130953 CNV deletion 24896259
nsv1142758 CNV deletion 24896259
nsv476125 CNV novel sequence insertion 20440878
nsv516693 CNV loss 19592680
nsv522364 CNV loss 19592680
nsv545963 CNV loss 21841781
nsv834613 CNV gain 17160897

Variation tolerance for PHC2 Gene

Residual Variation Intolerance Score: 14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.59; 86.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PHC2 Gene

Human Gene Mutation Database (HGMD)
PHC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHC2 Gene

Disorders for PHC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PHC2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
conventional angiosarcoma
- elite association - COSMIC cancer census association via MalaCards
Search PHC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PHC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PHC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHC2 Gene

Publications for PHC2 Gene

  1. Identification and characterisation of novel mammalian homologues of Drosophila polyhomeoticpermits new insights into relationships between members of the polyhomeotic family. (PMID: 12384788) Tonkin E … Strachan T (Human genetics 2002) 2 3 4 22 58
  2. Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic. (PMID: 9121482) Gunster MJ … Otte AP (Molecular and cellular biology 1997) 2 3 4 22 58
  3. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 complexes in mammalian cells. (PMID: 21282530) Vandamme J … Angrand PO (Molecular & cellular proteomics : MCP 2011) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Several distinct polycomb complexes regulate and co-localize on the INK4a tumor suppressor locus. (PMID: 19636380) Maertens GN … Peters G (PloS one 2009) 3 4 58

Products for PHC2 Gene

Sources for PHC2 Gene

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