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Aliases for H2AFV Gene

Aliases for H2AFV Gene

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

External Ids for H2AFV Gene

Previous HGNC Symbols for H2AFV Gene

  • H2AV

Previous GeneCards Identifiers for H2AFV Gene

  • GC07M044610
  • GC07M044642
  • GC07M044833
  • GC07M044751

Summaries for H2AFV Gene

Entrez Gene Summary for H2AFV 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 H2AFV Gene

H2AFV (H2A Histone Family Member V) is a Protein Coding gene. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Meiosis. GO annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is H2AFZ.

UniProtKB/Swiss-Prot for H2AFV 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 H2AFV Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for H2AFV Gene

Genomics for H2AFV Gene

Regulatory Elements for H2AFV Gene

Enhancers for H2AFV Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G044893 1.4 FANTOM5 ENCODE dbSUPER 18.6 -46.6 -46644 3.0 HDAC1 PKNOX1 RAD21 YY1 TCF12 GATA2 SCRT2 HMG20B CEBPB PBX2 H2AFV LINC01952 MYO1G ENSG00000228596 PPIA PURB ZMIZ2 OGDH PIR53562 LOC105375262
GH07G044880 1.4 ENCODE dbSUPER 18.4 -37.0 -36970 9.8 HDGF PKNOX1 MLX CREB3L1 ARNT WRNIP1 SIN3A ARID4B DMAP1 ZNF2 H2AFV LINC01952 SNHG15 MYO1G ENSG00000228596 PPIA ZMIZ2 ENSG00000272768 PIR54023
GH07G044766 1.4 Ensembl ENCODE dbSUPER 16.2 +79.4 79359 4.7 FOXA2 PKNOX1 SIN3A ARID4B ZNF48 YY1 ZNF121 GLIS2 TBX21 SREBF1 H2AFV LINC01952 ZMIZ2 PPIA PIR36062 ENSG00000228596
GH07G044795 1.2 ENCODE 18.2 +50.7 50685 4.1 CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 ZNF548 SP3 NFYC TBX21 ZMIZ2 H2AFV SEPT7P2 SNORA5C LINC01952 SNORA5B DDX56 SNHG15 PPIA GC07P044796
GH07G044628 2 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +212.9 212922 13.6 HDGF PKNOX1 FOXA2 WRNIP1 SIN3A ARID4B FEZF1 YY1 ZNF766 ZNF143 PURB OGDH NACAD MYO1G ENSG00000228596 H2AFV LINC01952 DDX56 NUDCD3 PPIA
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around H2AFV on UCSC Golden Path with GeneCards custom track

Promoters for H2AFV Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000211880 526 3201 CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21

Genomic Location for H2AFV Gene

Chromosome:
7
Start:
44,826,791 bp from pter
End:
44,848,126 bp from pter
Size:
21,336 bases
Orientation:
Minus strand

Genomic View for H2AFV Gene

Genes around H2AFV on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2AFV Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H2AFV Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2AFV Gene

Proteins for H2AFV Gene

  • Protein details for H2AFV 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 H2AFV 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 H2AFV Gene

    Alternative splice isoforms for H2AFV Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for H2AFV Gene

Post-translational modifications for H2AFV Gene

  • Acetylated on Lys-5, Lys-8 and Lys-12 during interphase. Acetylation disappears at mitosis (By similarity).
  • Monoubiquitination of Lys-122 gives a specific tag for epigenetic transcriptional repression.
  • Ubiquitination at isoforms=3, 4122
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for H2AFV Gene

Domains & Families for H2AFV Gene

Gene Families for H2AFV Gene

Protein Domains for H2AFV Gene

Suggested Antigen Peptide Sequences for H2AFV Gene

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 H2AFV: view

Function for H2AFV Gene

Molecular function for H2AFV 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).

Gene Ontology (GO) - Molecular Function for H2AFV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003677 DNA binding IBA,IEA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with H2AFV: view

Phenotypes for H2AFV Gene

genes like me logo Genes that share phenotypes with H2AFV: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for H2AFV Gene

Localization for H2AFV Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2AFV 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 H2AFV gene
Compartment Confidence
extracellular 5
nucleus 5

Gene Ontology (GO) - Cellular Components for H2AFV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0000790 nuclear chromatin IBA --
GO:0005634 nucleus IEA,IDA 16457589
GO:0005694 chromosome IEA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with H2AFV: view

Pathways & Interactions for H2AFV Gene

SuperPathways for H2AFV Gene

SuperPathway Contained pathways
1 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
2 Cellular Senescence
3 Chromosome Maintenance
4 Cell Cycle, Mitotic
.60
5 Mitotic Prophase
genes like me logo Genes that share pathways with H2AFV: view

Gene Ontology (GO) - Biological Process for H2AFV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006342 chromatin silencing IBA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with H2AFV: view

No data available for SIGNOR curated interactions for H2AFV Gene

Drugs & Compounds for H2AFV Gene

No Compound Related Data Available

Transcripts for H2AFV Gene

Unigene Clusters for H2AFV Gene

H2A histone family, member V:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for H2AFV Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b
SP1: -
SP2: - - - -
SP3: - - - - -
SP4: - -
SP5: - -
SP6:
SP7: - -

Relevant External Links for H2AFV Gene

GeneLoc Exon Structure for
H2AFV
ECgene alternative splicing isoforms for
H2AFV

Expression for H2AFV Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for H2AFV Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for H2AFV Gene

This gene is overexpressed in Monocytes (23.2), Tlymphocyte (8.3), and Blymphocyte (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for H2AFV Gene



Protein tissue co-expression partners for H2AFV Gene

NURSA nuclear receptor signaling pathways regulating expression of H2AFV Gene:

H2AFV

SOURCE GeneReport for Unigene cluster for H2AFV Gene:

Hs.488189

Evidence on tissue expression from TISSUES for H2AFV 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 H2AFV: 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 H2AFV Gene

Orthologs for H2AFV Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for H2AFV Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia H2AFV 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia H2AFV 35
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia H2AFV 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia H2AFV 34 35
  • 99.74 (n)
cow
(Bos Taurus)
Mammalia H2AFV 34 35
  • 94.27 (n)
rat
(Rattus norvegicus)
Mammalia LOC685909 34
  • 92.71 (n)
mouse
(Mus musculus)
Mammalia H2afv 34 16 35
  • 91.67 (n)
chicken
(Gallus gallus)
Aves H2AFV 35
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia H2AFV 35
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia h2afv 34
  • 84.11 (n)
Str.1584 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24058 34
zebrafish
(Danio rerio)
Actinopterygii h2afvb 35
  • 85 (a)
OneToMany
h2afva 35 34
  • 80.47 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14060 34
fruit fly
(Drosophila melanogaster)
Insecta His2Av 35 34
  • 74.86 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000306 34
  • 74.25 (n)
worm
(Caenorhabditis elegans)
Secernentea htz-1 34 35
  • 70.46 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTZ1 34 35 37
  • 65.29 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL017C 34
  • 63.74 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C05918g 34
  • 62.07 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons HTA8 34
  • 69.3 (n)
soybean
(Glycine max)
eudicotyledons Gma.3316 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12459 34
rice
(Oryza sativa)
Liliopsida Os03g0743400 34
  • 72.6 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.22962 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7971 35
  • 83 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pht1 34
  • 61.62 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05347 34
  • 60.94 (n)
Species where no ortholog for H2AFV 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 H2AFV Gene

ENSEMBL:
Gene Tree for H2AFV (if available)
TreeFam:
Gene Tree for H2AFV (if available)

Paralogs for H2AFV Gene

Paralogs for H2AFV Gene

Pseudogenes.org Pseudogenes for H2AFV Gene

genes like me logo Genes that share paralogs with H2AFV: view

Variants for H2AFV Gene

Sequence variations from dbSNP and Humsavar for H2AFV Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000001425 -- 44,847,106(+) AGTAA(C/T)CTTTC intron-variant, upstream-variant-2KB
rs1000108789 -- 44,832,991(+) AAATA(C/T)AATTT intron-variant
rs1000120791 -- 44,833,559(+) TTGGC(A/C)AGGCT intron-variant, downstream-variant-500B
rs1000313423 -- 44,844,246(+) ATACA(C/T)ATAAT intron-variant
rs1000414261 -- 44,837,338(+) GAATC(A/G)GTTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for H2AFV 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 H2AFV 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)

Relevant External Links for H2AFV Gene

Human Gene Mutation Database (HGMD)
H2AFV
SNPedia medical, phenotypic, and genealogical associations of SNPs for
H2AFV

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for H2AFV Gene

Disorders for H2AFV Gene

Relevant External Links for H2AFV

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
H2AFV

No disorders were found for H2AFV Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for H2AFV Gene

Publications for H2AFV Gene

  1. Precise characterization of human histones in the H2A gene family by top down mass spectrometry. (PMID: 16457589) Boyne M.T. II … Kelleher N.L. (J. Proteome Res. 2006) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 64
  5. A comprehensive view of the epigenetic landscape part I: DNA methylation, passive and active DNA demethylation pathways and histone variants. (PMID: 25362550) Sadakierska-Chudy A. … Filip M. (Neurotox Res 2015) 3 64

Products for H2AFV Gene

Sources for H2AFV Gene

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