Aliases for EZHIP Gene

Aliases for EZHIP Gene

  • EZH Inhibitory Protein 2 3 4 5
  • Catalytic Antagonist Of Polycomb 2 3
  • CATACOMB 2 3
  • CXorf67 3 4
  • Chromosome X Open Reading Frame 67 2
  • Uncharacterized Protein CXorf67 3
  • K27M-Like Inhibitor Of PRC2 3
  • KIP75 3
  • EZHIP 5

External Ids for EZHIP Gene

Previous HGNC Symbols for EZHIP Gene

  • CXorf67

Summaries for EZHIP Gene

GeneCards Summary for EZHIP Gene

EZHIP (EZH Inhibitory Protein) is a Protein Coding gene. Diseases associated with EZHIP include Endometrial Stromal Sarcoma and Myxoid Leiomyosarcoma.

UniProtKB/Swiss-Prot Summary for EZHIP Gene

  • Inhibits PRC2/EED-EZH2 complex function thereby causing down-regulation of H3K27me3. In the PRC2/EED-EZH2 complex, interacts and inhibits EZH2 methyltransferase activity.

Additional gene information for EZHIP Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EZHIP Gene

Genomics for EZHIP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EZHIP 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
GH0XJ051408 Enhancer 0.2 Ensembl 600.7 +1.2 1153 0.2 EZHIP lnc-NUDT11-5 ENSG00000226530 NUDT11
GH0XJ051456 Enhancer 0.4 ENCODE 12.9 +49.7 49683 0.7 CTCF RAD21 YY1 ZNF654 NUDT11 EZHIP piR-52368-176 lnc-CXorf67-2 ENSG00000226530
GH0XJ051361 Enhancer 0.2 Ensembl 11.9 -45.6 -45647 0.2 EZHIP piR-61689 piR-31199-391 NUDT10 LOC105373204 ENSG00000229151 LINC01284
GH0XJ051362 Enhancer 0.2 Ensembl 11.9 -45.2 -45248 0.2 EZHIP piR-61689 piR-31199-391 NUDT10 LINC01284 LOC105373204 ENSG00000229151
GH0XJ051395 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 0.4 -10.4 -10373 2.1 SCRT2 CTCF ZXDB GABPA ZBTB26 ZFHX2 ZNF335 ETV1 CHD2 ZFX ENSG00000226530 ENSG00000229151 LOC105373204 LOC100419238 LINC01284 NUDT10 EZHIP lnc-NUDT11-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EZHIP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EZHIP

Genomic Locations for EZHIP Gene

Genomic Locations for EZHIP Gene
chrX:51,406,948-51,408,843
(GRCh38/hg38)
Size:
1,896 bases
Orientation:
Plus strand
chrX:51,149,767-51,151,690
(GRCh37/hg19)
Size:
1,924 bases
Orientation:
Plus strand

Genomic View for EZHIP Gene

Genes around EZHIP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for EZHIP Gene

Proteins for EZHIP Gene

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

    Protein Symbol:
    Q86X51-EZHIP_HUMAN
    Recommended name:
    EZH inhibitory protein
    Protein Accession:
    Q86X51

    Protein attributes for EZHIP Gene

    Size:
    503 amino acids
    Molecular mass:
    51894 Da
    Quaternary structure:
    • Interacts with EZH2; the interaction blocks EZH2 methyltransferase activity (PubMed:30923826, PubMed:29909548). Interacts (via C-terminal region) with SUZ12 (PubMed:30923826, PubMed:29909548).

neXtProt entry for EZHIP Gene

Post-translational modifications for EZHIP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EZHIP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EZHIP Gene

Domains & Families for EZHIP Gene

Gene Families for EZHIP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EZHIP Gene

ProtoNet:
genes like me logo Genes that share domains with EZHIP: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EZHIP Gene

Function for EZHIP Gene

Molecular function for EZHIP Gene

UniProtKB/Swiss-Prot Function:
Inhibits PRC2/EED-EZH2 complex function thereby causing down-regulation of H3K27me3. In the PRC2/EED-EZH2 complex, interacts and inhibits EZH2 methyltransferase activity.

Phenotypes From GWAS Catalog for EZHIP Gene

Gene Ontology (GO) - Molecular Function for EZHIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 29909548
genes like me logo Genes that share ontologies with EZHIP: view
genes like me logo Genes that share phenotypes with EZHIP: view

Animal Model Products

CRISPR Products

miRNA for EZHIP Gene

Inhibitory RNA Products

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

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

Localization for EZHIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for EZHIP Gene

Nucleus. Cytoplasm.

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 EZHIP gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EZHIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 29909548
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 30923826
genes like me logo Genes that share ontologies with EZHIP: view

Pathways & Interactions for EZHIP Gene

PathCards logo

SuperPathways for EZHIP Gene

No Data Available

Interacting Proteins for EZHIP Gene

Gene Ontology (GO) - Biological Process for EZHIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0061086 negative regulation of histone H3-K27 methylation IDA 29909548
genes like me logo Genes that share ontologies with EZHIP: view

No data available for Pathways by source and SIGNOR curated interactions for EZHIP Gene

Drugs & Compounds for EZHIP Gene

No Compound Related Data Available

Transcripts for EZHIP Gene

mRNA/cDNA for EZHIP Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for EZHIP Gene

GeneLoc Exon Structure for
EZHIP

Expression for EZHIP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EZHIP

SOURCE GeneReport for Unigene cluster for EZHIP Gene:

Hs.97053

Evidence on tissue expression from TISSUES for EZHIP Gene

  • Skin(4.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EZHIP Gene

Orthologs for EZHIP Gene

This gene was present in the common ancestor of mammals.

Orthologs for EZHIP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CXorf67 31
  • 84 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CXorf67 31
  • 42 (a)
OneToOne
Species where no ortholog for EZHIP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for EZHIP Gene

ENSEMBL:
Gene Tree for EZHIP (if available)
TreeFam:
Gene Tree for EZHIP (if available)

Paralogs for EZHIP Gene

Pseudogenes.org Pseudogenes for EZHIP Gene

genes like me logo Genes that share paralogs with EZHIP: view

No data available for Paralogs for EZHIP Gene

Variants for EZHIP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EZHIP Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
737121 Benign: not provided 51,407,349(+) G/T SYNONYMOUS_VARIANT
rs1875755 - p.Arg470Lys

Additional dbSNP identifiers (rs#s) for EZHIP Gene

Variation tolerance for EZHIP Gene

Gene Damage Index Score: 0.42; 9.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EZHIP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EZHIP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EZHIP Gene

Disorders for EZHIP Gene

MalaCards: The human disease database

(4) MalaCards diseases for EZHIP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
endometrial stromal sarcoma
  • endometrial stromal sarcoma, high grade
myxoid leiomyosarcoma
  • leiomyosarcoma, myxoid
endometrial stromal nodule
endometrial stromal tumor
  • endometrial stromal neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search EZHIP in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with EZHIP: view

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

Publications for EZHIP Gene

  1. EZHIP/CXorf67 mimics K27M mutated oncohistones and functions as an intrinsic inhibitor of PRC2 function in aggressive posterior fossa ependymoma. (PMID: 30923826) Hübner JM … Kool M (Neuro-oncology 2019) 2 3 4
  2. PFA ependymoma-associated protein EZHIP inhibits PRC2 activity through a H3 K27M-like mechanism. (PMID: 31086175) Jain SU … Lewis PW (Nature communications 2019) 2 3
  3. CATACOMB: An endogenous inducible gene that antagonizes H3K27 methylation activity of Polycomb repressive complex 2 via an H3K27M-like mechanism. (PMID: 31281901) Piunti A … Shilatifard A (Science advances 2019) 2 3
  4. Molecular heterogeneity and CXorf67 alterations in posterior fossa group A (PFA) ependymomas. (PMID: 29909548) Pajtler KW … Ellison DW (Acta neuropathologica 2018) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

No data available for Mastermind for EZHIP Gene

Products for EZHIP Gene

Sources for EZHIP Gene