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... See more...

Aliases for H2AZ2 Gene

Aliases for H2AZ2 Gene

  • H2A.Z Variant Histone 2 2 3
  • H2A Histone Family Member V 2 3 5
  • Histone H2A.V 3 4
  • H2A.F/Z 3 4
  • H2AFV 3 5
  • H2AV 3 4
  • Purine-Rich Binding Element Protein B 3
  • H2A Histone Family, Member V 2
  • Histone H2A.F/Z 3
  • H2A.Z-2 3

External Ids for H2AZ2 Gene

Previous HGNC Symbols for H2AZ2 Gene

  • H2AV
  • H2AFV

Summaries for H2AZ2 Gene

Entrez Gene Summary for H2AZ2 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 histone that is a member of the histone H2A family. Several transcript variants encoding different isoforms, have been identified for this gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for H2AZ2 Gene

H2AZ2 (H2A.Z Variant Histone 2) is a Protein Coding gene. Among its related pathways are Signaling by Wnt and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. An important paralog of this gene is H2AZ1.

UniProtKB/Swiss-Prot Summary for H2AZ2 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 (By similarity).

Gene Wiki entry for H2AZ2 Gene

Additional gene information for H2AZ2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for H2AZ2 Gene

Genomics for H2AZ2 Gene

GeneHancer (GH) Regulatory Elements for H2AZ2 Gene

Promoters and enhancers for H2AZ2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around H2AZ2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for H2AZ2

Genomic Locations for H2AZ2 Gene

Genomic Locations for H2AZ2 Gene
chr7:44,826,791-44,848,126
(GRCh38/hg38)
Size:
21,336 bases
Orientation:
Minus strand
chr7:44,866,390-44,887,725
(GRCh37/hg19)
Size:
21,336 bases
Orientation:
Minus strand

Genomic View for H2AZ2 Gene

Genes around H2AZ2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2AZ2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H2AZ2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2AZ2 Gene

Proteins for H2AZ2 Gene

  • Protein details for H2AZ2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q71UI9-H2AV_HUMAN
    Recommended name:
    Histone H2A.V
    Protein Accession:
    Q71UI9
    Secondary Accessions:
    • A6NFA8
    • A6NKY0
    • A6NN01
    • A8MQC5
    • Q59GV8
    • Q6PK98

    Protein attributes for H2AZ2 Gene

    Size:
    128 amino acids
    Molecular mass:
    13509 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 H2AFV forms a heterodimer with H2B (By similarity).
    SequenceCaution:
    • Sequence=BAD92238.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for H2AZ2 Gene

    Alternative splice isoforms for H2AZ2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for H2AZ2 Gene

Post-translational modifications for H2AZ2 Gene

  • Monoubiquitination of Lys-122 gives a specific tag for epigenetic transcriptional repression.
  • Acetylated on Lys-5, Lys-8 and Lys-12 during interphase. Acetylation disappears at mitosis (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for H2AZ2 Gene

Domains & Families for H2AZ2 Gene

Gene Families for H2AZ2 Gene

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

Protein Domains for H2AZ2 Gene

Suggested Antigen Peptide Sequences for H2AZ2 Gene

GenScript: Design optimal peptide antigens:
  • Histone H2A (A6NFA8_HUMAN)
  • Histone H2A (A6NKY0_HUMAN)
  • Histone H2A (A6NN01_HUMAN)
  • Histone H2A (A8MQC5_HUMAN)
  • Histone H2A (C9J0D1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q71UI9

UniProtKB/Swiss-Prot:

H2AV_HUMAN :
  • Belongs to the histone H2A family.
Family:
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with H2AZ2: view

Function for H2AZ2 Gene

Molecular function for H2AZ2 Gene

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 (By similarity).

Phenotypes From GWAS Catalog for H2AZ2 Gene

Gene Ontology (GO) - Molecular Function for H2AZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003677 DNA binding IEA,IBA 21873635
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with H2AZ2: view
genes like me logo Genes that share phenotypes with H2AZ2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for H2AZ2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for H2AZ2 Gene

Localization for H2AZ2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2AZ2 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 H2AZ2 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for H2AZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0000790 nuclear chromatin IBA 21873635
GO:0005634 nucleus IDA,IEA 16457589
GO:0005694 chromosome IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with H2AZ2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for H2AZ2 Gene

Pathways & Interactions for H2AZ2 Gene

PathCards logo

SuperPathways for H2AZ2 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 Mitotic Prophase
genes like me logo Genes that share pathways with H2AZ2: view

Gene Ontology (GO) - Biological Process for H2AZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IBA 21873635
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with H2AZ2: view

No data available for SIGNOR curated interactions for H2AZ2 Gene

Drugs & Compounds for H2AZ2 Gene

No Compound Related Data Available

Transcripts for H2AZ2 Gene

mRNA/cDNA for H2AZ2 Gene

5 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
8 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 H2AZ2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for H2AZ2 Gene

No ASD Table

Relevant External Links for H2AZ2 Gene

GeneLoc Exon Structure for
H2AZ2

Expression for H2AZ2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for H2AZ2

SOURCE GeneReport for Unigene cluster for H2AZ2 Gene:

Hs.488189

Evidence on tissue expression from TISSUES for H2AZ2 Gene

  • Nervous system(4.9)
  • Lung(3.1)
  • Kidney(2.6)
  • Skin(2.2)
  • Bone marrow(2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with H2AZ2: view

No data available for mRNA expression in normal human tissues , 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 H2AZ2 Gene

Orthologs for H2AZ2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for H2AZ2 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia H2AFV 31
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia H2AFV 31
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia H2AFV 31
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia H2AFV 31 30
  • 99.74 (n)
OneToOne
cow
(Bos Taurus)
Mammalia H2AFV 31 30
  • 94.27 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC685909 30
  • 92.71 (n)
mouse
(Mus musculus)
Mammalia H2afv 31 30
  • 91.67 (n)
OneToOne
H2az2 17
chicken
(Gallus gallus)
Aves H2AFV 31
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia H2AFV 31
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia h2afv 30
  • 84.11 (n)
Str.1584 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24058 30
zebrafish
(Danio rerio)
Actinopterygii h2afvb 31
  • 85 (a)
OneToMany
h2afva 31 30
  • 80.47 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14060 30
fruit fly
(Drosophila melanogaster)
Insecta His2Av 31 30
  • 74.86 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000306 30
  • 74.25 (n)
worm
(Caenorhabditis elegans)
Secernentea htz-1 31 30
  • 70.46 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTZ1 33 31 30
  • 65.29 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL017C 30
  • 63.74 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C05918g 30
  • 62.07 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons HTA8 30
  • 69.3 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12459 30
soybean
(Glycine max)
eudicotyledons Gma.3316 30
rice
(Oryza sativa)
Liliopsida Os03g0743400 30
  • 72.6 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.22962 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7971 31
  • 83 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pht1 30
  • 61.62 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05347 30
  • 60.94 (n)
Species where no ortholog for H2AZ2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for H2AZ2 Gene

ENSEMBL:
Gene Tree for H2AZ2 (if available)
TreeFam:
Gene Tree for H2AZ2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for H2AZ2: view image

Paralogs for H2AZ2 Gene

Pseudogenes.org Pseudogenes for H2AZ2 Gene

genes like me logo Genes that share paralogs with H2AZ2: view

Variants for H2AZ2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for H2AZ2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs1802437 - p.Gln125Arg

Additional dbSNP identifiers (rs#s) for H2AZ2 Gene

Structural Variations from Database of Genomic Variants (DGV) for H2AZ2 Gene

Variant ID Type Subtype PubMed ID
esv2734326 CNV deletion 23290073
nsv5723 CNV insertion 18451855
nsv830985 CNV loss 17160897
nsv951640 CNV duplication 24416366

Variation tolerance for H2AZ2 Gene

Residual Variation Intolerance Score: 47.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.05; 1.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for H2AZ2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
H2AZ2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for H2AZ2 Gene

Disorders for H2AZ2 Gene

No disorders were found for H2AZ2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for H2AZ2 Gene

Publications for H2AZ2 Gene

  1. Precise characterization of human histones in the H2A gene family by top down mass spectrometry. (PMID: 16457589) Boyne MT … Kelleher NL (Journal of proteome research 2006) 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 54
  5. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3 54

Products for H2AZ2 Gene

  • Signalway ELISA kits for H2AZ2
  • Signalway Proteins for H2AZ2

Sources for H2AZ2 Gene