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PHC2 polyhomeotic homolog 2 [ Homo sapiens (human) ]

Gene ID: 1912, updated on 7-Apr-2019

Summary

Official Symbol
PHC2provided by HGNC
Official Full Name
polyhomeotic homolog 2provided by HGNC
Primary source
HGNC:HGNC:3183
See related
Ensembl:ENSG00000134686 MIM:602979
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PH2; EDR2; HPH2
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]
Expression
Ubiquitous expression in testis (RPKM 13.8), endometrium (RPKM 13.8) and 25 other tissues See more
Orthologs

Genomic context

See PHC2 in Genome Data Viewer
Location:
1p35.1
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (33323623..33375593, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (33789224..33841194, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 362 Neighboring gene alpha 1,3-galactosyltransferase 2 Neighboring gene microRNA 3605 Neighboring gene RN7SK pseudogene 16 Neighboring gene uncharacterized LOC101929464 Neighboring gene VISTA enhancer hs1388 Neighboring gene toll like receptor 12, pseudogene Neighboring gene zinc finger and SCAN domain containing 20

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cellular Senescence, organism-specific biosystem (from REACTOME)
    Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Oxidative Stress Induced Senescence, organism-specific biosystem (from REACTOME)
    Oxidative Stress Induced Senescence, organism-specific biosystemOxidative stress, caused by increased concentration of reactive oxygen species (ROS) in the cell, can happen as a consequence of mitochondrial dysfunction induced by the oncogenic RAS (Moiseeva et al...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
    SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
  • SUMOylation, organism-specific biosystem (from REACTOME)
    SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
  • SUMOylation of DNA damage response and repair proteins, organism-specific biosystem (from REACTOME)
    SUMOylation of DNA damage response and repair proteins, organism-specific biosystemSeveral factors that participate in DNA damage response and repair are SUMOylated (reviewed in Dou et al. 2011, Bekker-Jensen and Mailand 2011, Ulrich 2012, Psakhye and Jentsch 2012, Bologna and Ferr...
  • SUMOylation of RNA binding proteins, organism-specific biosystem (from REACTOME)
    SUMOylation of RNA binding proteins, organism-specific biosystemSUMOylation of RNA-binding proteins (Li et al. 2004, reviewed in Filosa et al. 2013) alters their interactions with nucleic acids and with proteins. Whereas SUMOylation of HNRNPC decreases its affini...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC163502

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
PRC1 complex IDA
Inferred from Direct Assay
more info
PubMed 
PcG protein complex IDA
Inferred from Direct Assay
more info
PubMed 
heterochromatin IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
polyhomeotic-like protein 2
Names
early development regulator 2 (homolog of polyhomeotic 2)
early development regulatory protein 2
polyhomeotic 2
polyhomeotic-like 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001330488.1NP_001317417.1  polyhomeotic-like protein 2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AL513327
    Consensus CDS
    CCDS81298.1
    UniProtKB/TrEMBL
    A0A0A0MSI2
    Related
    ENSP00000389436.2, ENST00000431992.5
  2. NM_004427.3NP_004418.2  polyhomeotic-like protein 2 isoform b

    See identical proteins and their annotated locations for NP_004418.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    BC018602, CA949539, CD109667
    Consensus CDS
    CCDS379.1
    UniProtKB/Swiss-Prot
    Q8IXK0
    Related
    ENSP00000362517.3, ENST00000373418.7
    Conserved Domains (2) summary
    cd09577
    Location:254322
    SAM_Ph1,2,3; SAM domain of Ph (polyhomeotic) proteins of Polycomb group
    pfam16616
    Location:135253
    PHC2_SAM_assoc; Unstructured region on Polyhomeotic-like protein 1 and 2
  3. NM_198040.2NP_932157.1  polyhomeotic-like protein 2 isoform a

    See identical proteins and their annotated locations for NP_932157.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AJ419231, CA949539
    Consensus CDS
    CCDS378.1
    UniProtKB/Swiss-Prot
    Q8IXK0
    Related
    ENSP00000257118.5, ENST00000257118.5
    Conserved Domains (4) summary
    cd09577
    Location:789857
    SAM_Ph1,2,3; SAM domain of Ph (polyhomeotic) proteins of Polycomb group
    smart00454
    Location:791858
    SAM; Sterile alpha motif
    COG3416
    Location:53176
    COG3416; Uncharacterized protein [Function unknown]
    pfam16616
    Location:670788
    PHC2_SAM_assoc; Unstructured region on Polyhomeotic-like protein 1 and 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    33323623..33375593 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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