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Aliases for H2AFZ Gene

Subcategory (RNA class) for H2AFZ Gene

lncRNA

Aliases for H2AFZ Gene

  • H2A Histone Family Member Z 2 3 5
  • H2A/Z 3 4
  • H2AZ 3 4
  • H2A Histone Family, Member Z 2
  • Histone H2A.Z 3
  • H2AZ Histone 3
  • H2A.Z-1 3
  • H2A.Z 3

External Ids for H2AFZ Gene

ORGUL Members for H2AFZ Gene

Previous HGNC Symbols for H2AFZ Gene

  • H2AZ

Previous GeneCards Identifiers for H2AFZ Gene

  • GC04M101116
  • GC04M101261
  • GC04M101327
  • GC04M101226
  • GC04M100869
  • GC04M096607

Summaries for H2AFZ Gene

Entrez Gene Summary for H2AFZ Gene

  • Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008]

GeneCards Summary for H2AFZ Gene

H2AFZ (H2A Histone Family Member Z) is a Protein Coding gene, and is affiliated with the lncRNA class. Diseases associated with H2AFZ include Testicular Spermatocytic Seminoma and Testis Seminoma. Among its related pathways are Mitotic Prophase and Meiosis. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and RNA polymerase II distal enhancer sequence-specific DNA binding. An important paralog of this gene is H2AFV.

UniProtKB/Swiss-Prot for H2AFZ Gene

  • Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for chromosome segregation during cell division.

Gene Wiki entry for H2AFZ Gene

Additional gene information for H2AFZ Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for H2AFZ Gene

Genomics for H2AFZ Gene

GeneHancer (GH) Regulatory Elements for H2AFZ Gene

Promoters and enhancers for H2AFZ 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
GH04I099944 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +2.2 2237 6.6 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 DNAJB14 H2AFZ LOC256880 LAMTOR3 DAPP1
GH04I099893 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.1 +56.1 56137 2.3 PKNOX1 ATF1 ARID4B SIN3A YY1 ETS1 POLR2B E2F8 ATF7 RUNX3 LAMTOR3 DNAJB14 H2AFZ LOC256880 MTTP TRMT10A DAPP1 ENSG00000279913
GH04I099814 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 +133.5 133460 4.1 HDGF PKNOX1 FOXA2 SMAD1 RB1 IRF4 ZNF207 ZNF143 ATF7 ETV6 DAPP1 TRMT10A MTTP DNAJB14 H2AFZ LOC256880 LAMTOR3 LOC285556
GH04I099819 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +129.0 128957 3.2 CBX5 ATF7 TRIM24 ETV6 BCLAF1 IKZF2 RUNX3 ZBED1 CBFA2T3 REST LOC285556 DNAJB14 TRMT10A DAPP1 H2AFZ MTTP LOC256880 LAMTOR3 DDIT4L
GH04I099855 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.5 +93.7 93687 3 SMARCA5 CTCF IRF2 MTA2 REST DPF2 FOSL1 JUND POLR2A SMARCA4 DNAJB14 DAPP1 H2AFZ LOC256880 ENSG00000279913 LAMTOR3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around H2AFZ on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the H2AFZ gene promoter:

Genomic Locations for H2AFZ Gene

Genomic Locations for H2AFZ Gene
chr4:99,948,086-99,950,388
(GRCh38/hg38)
Size:
2,303 bases
Orientation:
Minus strand
chr4:100,869,243-100,871,545
(GRCh37/hg19)

Genomic View for H2AFZ Gene

Genes around H2AFZ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2AFZ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H2AFZ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2AFZ Gene

Proteins for H2AFZ Gene

  • Protein details for H2AFZ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C0S5-H2AZ_HUMAN
    Recommended name:
    Histone H2A.Z
    Protein Accession:
    P0C0S5
    Secondary Accessions:
    • B2RD56
    • P17317
    • Q6I9U0

    Protein attributes for H2AFZ Gene

    Size:
    128 amino acids
    Molecular mass:
    13553 Da
    Quaternary structure:
    • The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA. H2A or its variant H2AFZ forms a heterodimer with H2B. H2AFZ interacts with INCENP (By similarity). Interacts (via M6 cassette) with ANP32E; leading to removal of H2A.Z/H2AFZ from the nucleosome. Heterodimer HIST1H2BJ and H2AFZ interacts with VPS72 (via N-terminal domain) (PubMed:26974126). Interacts with PWWP2A (PubMed:28645917).

    Three dimensional structures from OCA and Proteopedia for H2AFZ Gene

neXtProt entry for H2AFZ Gene

Post-translational modifications for H2AFZ Gene

  • Acetylated on Lys-5, Lys-8 and Lys-12 during interphase. Acetylation disappears at mitosis (By similarity).
  • Monomethylated on Lys-5 and Lys-8 by SETD6. SETD6 predominantly methylates Lys-8, lys-5 being a possible secondary site.
  • Monoubiquitination of Lys-122 gives a specific tag for epigenetic transcriptional repression.
  • Not phosphorylated.
  • Ubiquitination at isoforms=122

Other Protein References for H2AFZ Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for H2AFZ Gene

Domains & Families for H2AFZ Gene

Gene Families for H2AFZ Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for H2AFZ Gene

Suggested Antigen Peptide Sequences for H2AFZ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0C0S5

UniProtKB/Swiss-Prot:

H2AZ_HUMAN :
  • Belongs to the histone H2A family.
Family:
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with H2AFZ: view

Function for H2AFZ Gene

Molecular function for H2AFZ Gene

GENATLAS Biochemistry:
histone family 2,replacement subtype,replication independent protein,species H2A.Z
UniProtKB/Swiss-Prot Function:
Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for chromosome segregation during cell division.

Gene Ontology (GO) - Molecular Function for H2AFZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 19834540
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 19633671
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA 19633671
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 20473270
genes like me logo Genes that share ontologies with H2AFZ: view
genes like me logo Genes that share phenotypes with H2AFZ: view

Animal Models for H2AFZ Gene

MGI Knock Outs for H2AFZ:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for H2AFZ Gene

Localization for H2AFZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2AFZ Gene

Nucleus. Chromosome.

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 H2AFZ gene
Compartment Confidence
extracellular 5
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for H2AFZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0001740 NOT Barr body IDA 11331621
GO:0005634 nucleus IDA 11331621
GO:0005694 chromosome IEA --
GO:0005719 nuclear euchromatin IDA 19834540
genes like me logo Genes that share ontologies with H2AFZ: view

Pathways & Interactions for H2AFZ Gene

SuperPathways for H2AFZ Gene

SuperPathway Contained pathways
1 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
2 Cellular Senescence (REACTOME)
3 Chromosome Maintenance
4 Cell Cycle, Mitotic
.60
5 DNA Damage/Telomere Stress Induced Senescence
genes like me logo Genes that share pathways with H2AFZ: view

SIGNOR curated interactions for H2AFZ Gene

Other effect:

Gene Ontology (GO) - Biological Process for H2AFZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006342 chromatin silencing IBA --
GO:0045944 positive regulation of transcription by RNA polymerase II IMP 19834540
GO:0071392 cellular response to estradiol stimulus IMP 23637611
genes like me logo Genes that share ontologies with H2AFZ: view

Drugs & Compounds for H2AFZ Gene

No Compound Related Data Available

Transcripts for H2AFZ Gene

Unigene Clusters for H2AFZ Gene

H2A histone family, member Z:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for H2AFZ Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b · 5c
SP1: - -
SP2: - - -
SP3: -
SP4:
SP5: - - -
SP6:

Relevant External Links for H2AFZ Gene

GeneLoc Exon Structure for
H2AFZ
ECgene alternative splicing isoforms for
H2AFZ

Expression for H2AFZ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for H2AFZ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for H2AFZ Gene

This gene is overexpressed in Heart (36.2), Urine (17.0), and Brain (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for H2AFZ Gene



Protein tissue co-expression partners for H2AFZ Gene

NURSA nuclear receptor signaling pathways regulating expression of H2AFZ Gene:

H2AFZ

SOURCE GeneReport for Unigene cluster for H2AFZ Gene:

Hs.119192

Evidence on tissue expression from TISSUES for H2AFZ Gene

  • Nervous system(4.9)
  • Blood(4.5)
  • Muscle(4.3)
  • Skin(4.2)
  • Liver(4.1)
  • Eye(3.6)
  • Lung(3.3)
  • Intestine(2.5)
  • Bone marrow(2.2)
  • Heart(2.2)
  • Stomach(2.2)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with H2AFZ: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for H2AFZ Gene

Orthologs for H2AFZ Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for H2AFZ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia H2AFZ 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 99 (a)
OneToMany
H2AFZ 33
  • 97.4 (n)
-- 34
  • 91 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia H2AFZ 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia H2AFZ 33 34
  • 97.14 (n)
mouse
(Mus musculus)
Mammalia H2afz 33 16 34
  • 94.79 (n)
rat
(Rattus norvegicus)
Mammalia H2afz 33
  • 94.27 (n)
chicken
(Gallus gallus)
Aves H2AFZ 33 34
  • 84.37 (n)
lizard
(Anolis carolinensis)
Reptilia H2AFZ 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia h2afz 33
  • 76.3 (n)
Str.6600 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53404 33
zebrafish
(Danio rerio)
Actinopterygii h2afvb 33
  • 76.3 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8307 33
fruit fly
(Drosophila melanogaster)
Insecta His2Av 35 34
  • 100 (a)
worm
(Caenorhabditis elegans)
Secernentea R08C7.3 35
  • 91 (a)
htz-1 34
  • 74 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTZ1 34
  • 61 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons HTA9 33
  • 64.8 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7971 34
  • 83 (a)
OneToMany
Species where no ortholog for H2AFZ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for H2AFZ Gene

ENSEMBL:
Gene Tree for H2AFZ (if available)
TreeFam:
Gene Tree for H2AFZ (if available)

Paralogs for H2AFZ Gene

Variants for H2AFZ Gene

Sequence variations from dbSNP and Humsavar for H2AFZ Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000269871 -- 99,947,648(-) C/T downstream_transcript_variant
rs1000955299 -- 99,950,229(-) G/A 5_prime_UTR_variant
rs1002192955 -- 99,949,058(-) T/A intron_variant
rs1003079407 -- 99,950,275(-) C/T 5_prime_UTR_variant
rs1003273611 -- 99,951,558(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for H2AFZ Gene

Variant ID Type Subtype PubMed ID
esv25894 CNV loss 19812545
nsv594944 CNV loss 21841781
nsv822668 CNV gain 20364138
nsv967776 CNV duplication 23825009

Variation tolerance for H2AFZ Gene

Residual Variation Intolerance Score: 50.7% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for H2AFZ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
H2AFZ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for H2AFZ Gene

Disorders for H2AFZ Gene

MalaCards: The human disease database

(2) MalaCards diseases for H2AFZ Gene - From: DISEASES

Disorder Aliases PubMed IDs
testicular spermatocytic seminoma
  • spermatocytic seminoma
testis seminoma
  • seminoma
- elite association - COSMIC cancer census association via MalaCards
Search H2AFZ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for H2AFZ

genes like me logo Genes that share disorders with H2AFZ: view

No data available for UniProtKB/Swiss-Prot and Genatlas for H2AFZ Gene

Publications for H2AFZ Gene

  1. Characterization of histone H2A and H2B variants and their post-translational modifications by mass spectrometry. (PMID: 16319397) Bonenfant D … van Oostrum J (Molecular & cellular proteomics : MCP 2006) 3 4 22 58
  2. Transcription-induced chromatin remodeling at the c-myc gene involves the local exchange of histone H2A.Z. (PMID: 15878876) Farris SD … Krumm A (The Journal of biological chemistry 2005) 3 4 22 58
  3. The human histone H2A.Z gene. Sequence and regulation. (PMID: 1697587) Hatch CL … Bonner WM (The Journal of biological chemistry 1990) 2 3 4 58
  4. Multivalent binding of PWWP2A to H2A.Z regulates mitosis and neural crest differentiation. (PMID: 28645917) Pünzeler S … Hake SB (The EMBO journal 2017) 3 4 58
  5. Molecular basis and specificity of H2A.Z-H2B recognition and deposition by the histone chaperone YL1. (PMID: 26974126) Latrick CM … Hamiche A (Nature structural & molecular biology 2016) 3 4 58

Products for H2AFZ Gene

Sources for H2AFZ Gene

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