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Aliases for H2AFB2 Gene

Aliases for H2AFB2 Gene

  • H2A Histone Family Member B2 2 3 5
  • H2A.Bbd 3 4
  • H2A Histone Family, Member B2 2
  • Histone H2A-Bbd Type 2/3 3
  • H2A Barr Body Deficient 3
  • H2A Barr Body-Deficient 4
  • H2ABBD 4
  • H2AFB 4

External Ids for H2AFB2 Gene

Previous GeneCards Identifiers for H2AFB2 Gene

  • GC00U917956
  • GC0XU900552
  • GC0XP154263
  • GC0XP154610

Summaries for H2AFB2 Gene

Entrez Gene Summary for H2AFB2 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. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. [provided by RefSeq, Oct 2015]

GeneCards Summary for H2AFB2 Gene

H2AFB2 (H2A Histone Family Member B2) is a Protein Coding gene. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Necroptosis. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is H2AFB3.

UniProtKB/Swiss-Prot for H2AFB2 Gene

  • Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing. 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. Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo. They are enriched in actively transcribed genes and associate with the elongating form of RNA polymerase. They associate with spliceosome components and are required for mRNA splicing. May participate in spermatogenesis.

Additional gene information for H2AFB2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for H2AFB2 Gene

Genomics for H2AFB2 Gene

GeneHancer (GH) Regulatory Elements for H2AFB2 Gene

Promoters and enhancers for H2AFB2 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
GH0XJ155381 Promoter 1 EPDnew Ensembl 650.7 +1.7 1695 1.6 F8A2 MIR1184-2 H2AFB2 CLIC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around H2AFB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the H2AFB2 gene promoter:
  • Pax-5
  • AP-4
  • En-1
  • Olf-1
  • deltaCREB
  • CREB

Genomic Locations for H2AFB2 Gene

Genomic Locations for H2AFB2 Gene
chrX:155,380,706-155,381,299
(GRCh38/hg38)
Size:
594 bases
Orientation:
Plus strand
chrX:154,610,428-154,610,944
(GRCh37/hg19)
Size:
517 bases
Orientation:
Plus strand

Genomic View for H2AFB2 Gene

Genes around H2AFB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2AFB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H2AFB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2AFB2 Gene

Proteins for H2AFB2 Gene

  • Protein details for H2AFB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C5Z0-H2AB2_HUMAN
    Recommended name:
    Histone H2A-Bbd type 2/3
    Protein Accession:
    P0C5Z0
    Secondary Accessions:
    • A1L4E4
    • P98176
    • Q5TZB2
    • Q6FG78
    • Q96PR7
    • A1L4E4
    • P98176
    • Q5TZB2
    • Q6FG78
    • Q96PR7

    Protein attributes for H2AFB2 Gene

    Size:
    115 amino acids
    Molecular mass:
    12713 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. May be incorporated into a proportion of nucleosomes, replacing one or more H2A molecules.
    • 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. May be incorporated into a proportion of nucleosomes, replacing one or more H2A molecules.
    Miscellaneous:
    • In contrast to other H2A histones, it does not contain the conserved residues that are the target of post-translational modifications.
    • In contrast to other H2A histones, it does not contain the conserved residues that are the target of post-translational modifications.

neXtProt entry for H2AFB2 Gene

Post-translational modifications for H2AFB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for H2AFB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for H2AFB2 Gene

Domains & Families for H2AFB2 Gene

Gene Families for H2AFB2 Gene

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

Protein Domains for H2AFB2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P0C5Z0

UniProtKB/Swiss-Prot:

H2AB2_HUMAN :
  • The docking domain is responsible for the weaker heterodimerization with H2B.
  • Belongs to the histone H2A family.
Domain:
  • The docking domain is responsible for the weaker heterodimerization with H2B.
Family:
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with H2AFB2: view

No data available for Suggested Antigen Peptide Sequences for H2AFB2 Gene

Function for H2AFB2 Gene

Molecular function for H2AFB2 Gene

UniProtKB/Swiss-Prot Function:
Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing. 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. Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo. They are enriched in actively transcribed genes and associate with the elongating form of RNA polymerase. They associate with spliceosome components and are required for mRNA splicing. May participate in spermatogenesis.

Gene Ontology (GO) - Molecular Function for H2AFB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IBA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with H2AFB2: view
genes like me logo Genes that share phenotypes with H2AFB2: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for H2AFB2 Gene

Localization for H2AFB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2AFB2 Gene

Nucleus. Chromosome. Note=Associated with the active X chromosome and with autosomes, while it is absent from the inactive X chromosome and excluded from Barr bodies. {ECO:0000269 PubMed:20008104}.

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 H2AFB2 gene
Compartment Confidence
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for H2AFB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000788 nuclear nucleosome IDA 22795134
GO:0000790 nuclear chromatin IBA --
GO:0005634 nucleus HDA 21630459
GO:0005694 chromosome IEA --
GO:0035327 transcriptionally active chromatin IDA 22795134
genes like me logo Genes that share ontologies with H2AFB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for H2AFB2 Gene

Pathways & Interactions for H2AFB2 Gene

genes like me logo Genes that share pathways with H2AFB2: view

Pathways by source for H2AFB2 Gene

3 KEGG pathways for H2AFB2 Gene

Gene Ontology (GO) - Biological Process for H2AFB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IBA --
GO:0006334 nucleosome assembly IDA 22795134
GO:0006342 chromatin silencing IBA --
GO:0006397 mRNA processing IMP 22795134
genes like me logo Genes that share ontologies with H2AFB2: view

No data available for SIGNOR curated interactions for H2AFB2 Gene

Drugs & Compounds for H2AFB2 Gene

No Compound Related Data Available

Transcripts for H2AFB2 Gene

mRNA/cDNA for H2AFB2 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for H2AFB2 Gene

H2A histone family, member B2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for H2AFB2 Gene

No ASD Table

Relevant External Links for H2AFB2 Gene

GeneLoc Exon Structure for
H2AFB2
ECgene alternative splicing isoforms for
H2AFB2

Expression for H2AFB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for H2AFB2 Gene

mRNA differential expression in normal tissues according to GTEx for H2AFB2 Gene

This gene is overexpressed in Testis (x32.9) and Whole Blood (x5.6).

Protein differential expression in normal tissues from HIPED for H2AFB2 Gene

This gene is overexpressed in Testis (36.4) and Ovary (32.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for H2AFB2 Gene



Protein tissue co-expression partners for H2AFB2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of H2AFB2 Gene:

H2AFB2

SOURCE GeneReport for Unigene cluster for H2AFB2 Gene:

Hs.534498

mRNA Expression by UniProt/SwissProt for H2AFB2 Gene:

P0C5Z0-H2AB2_HUMAN
Tissue specificity: Present in mature sperm.
genes like me logo Genes that share expression patterns with H2AFB2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for H2AFB2 Gene

Orthologs for H2AFB2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for H2AFB2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC528006 33
  • 73.21 (n)
dog
(Canis familiaris)
Mammalia LOC102152481 33
  • 69.93 (n)
mouse
(Mus musculus)
Mammalia H2afb3-ps 33
  • 64.87 (n)
rat
(Rattus norvegicus)
Mammalia H2afb3 33
  • 63.8 (n)
Species where no ortholog for H2AFB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 H2AFB2 Gene

ENSEMBL:
Gene Tree for H2AFB2 (if available)
TreeFam:
Gene Tree for H2AFB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for H2AFB2: view image

Paralogs for H2AFB2 Gene

Variants for H2AFB2 Gene

Sequence variations from dbSNP and Humsavar for H2AFB2 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs868910984 -- 155,381,696(+) C/G downstream_transcript_variant
rs868964295 -- 155,381,718(+) G/A downstream_transcript_variant
rs868988658 -- 155,381,446(+) C/A downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for H2AFB2 Gene

Variant ID Type Subtype PubMed ID
dgv2549e212 CNV gain 25503493
esv29972 CNV gain 17803354
esv33784 CNV gain+loss 17666407
esv3577568 CNV gain 25503493
esv3577574 CNV gain 25503493
nsv1076287 CNV deletion 25765185
nsv499361 OTHER inversion 21111241
nsv508817 CNV insertion 20534489
nsv7470 OTHER inversion 18451855

Additional Variant Information for H2AFB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
H2AFB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for H2AFB2 Gene

Disorders for H2AFB2 Gene

Additional Disease Information for H2AFB2

No disorders were found for H2AFB2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for H2AFB2 Gene

Publications for H2AFB2 Gene

  1. Histone variant H2A.Bbd is associated with active transcription and mRNA processing in human cells. (PMID: 22795134) Tolstorukov MY … Park PJ (Molecular cell 2012) 3 4 58
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
  3. Assembly and disassembly of nucleosome core particles containing histone variants by human nucleosome assembly protein I. (PMID: 16287874) Okuwaki M … Nagata K (Molecular and cellular biology 2005) 3 4 58
  4. Nucleosomes containing the histone variant H2A.Bbd organize only 118 base pairs of DNA. (PMID: 15257289) Bao Y … Luger K (The EMBO journal 2004) 3 4 58
  5. 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 58

Products for H2AFB2 Gene

Sources for H2AFB2 Gene

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