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Aliases for HIST2H2AC Gene

Aliases for HIST2H2AC Gene

  • Histone Cluster 2, H2ac 2 3 5
  • H2A Histone Family, Member Q 2 3
  • Histone H2A-GL101 3 4
  • Histone 2, H2ac 2 3
  • Histone H2A/Q 3 4
  • H2AFQ 3 4
  • Histone IIa 3
  • H2A-GL101 3
  • H2A/Q 3
  • H2A 3

External Ids for HIST2H2AC Gene

Previous HGNC Symbols for HIST2H2AC Gene

  • H2A
  • H2AFQ

Previous GeneCards Identifiers for HIST2H2AC Gene

  • GC01P145600
  • GC01P146633
  • GC01P147075
  • GC01P146671
  • GC01P148125
  • GC01P149858
  • GC01P121239

Summaries for HIST2H2AC Gene

Entrez Gene Summary for HIST2H2AC Gene

  • Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. [provided by RefSeq, Aug 2015]

GeneCards Summary for HIST2H2AC Gene

HIST2H2AC (Histone Cluster 2, H2ac) is a Protein Coding gene. Diseases associated with HIST2H2AC include riddle syndrome and toxic pneumonitis. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Cell Cycle, Mitotic. GO annotations related to this gene include sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is HIST1H2AM.

UniProtKB/Swiss-Prot for HIST2H2AC Gene

  • Core component of nucleosome. 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.

Gene Wiki entry for HIST2H2AC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST2H2AC Gene

Genomics for HIST2H2AC Gene

Regulatory Elements for HIST2H2AC Gene

Enhancers for HIST2H2AC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HIST2H2AC on UCSC Golden Path with GeneCards custom track

Promoters for HIST2H2AC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HIST2H2AC on UCSC Golden Path with GeneCards custom track

Genomic Location for HIST2H2AC Gene

Chromosome:
1
Start:
149,886,975 bp from pter
End:
149,887,411 bp from pter
Size:
437 bases
Orientation:
Plus strand

Genomic View for HIST2H2AC Gene

Genes around HIST2H2AC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIST2H2AC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIST2H2AC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIST2H2AC Gene

Proteins for HIST2H2AC Gene

  • Protein details for HIST2H2AC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16777-H2A2C_HUMAN
    Recommended name:
    Histone H2A type 2-C
    Protein Accession:
    Q16777
    Secondary Accessions:
    • Q6DRA7
    • Q8IUE5

    Protein attributes for HIST2H2AC Gene

    Size:
    129 amino acids
    Molecular mass:
    13988 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.

neXtProt entry for HIST2H2AC Gene

Proteomics data for HIST2H2AC Gene at MOPED

Post-translational modifications for HIST2H2AC Gene

  • Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.
  • Deiminated on Arg-4 in granulocytes upon calcium entry.
  • Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).
  • Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM27 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of Lys-27 of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM27 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through Lys-63 linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and Lys-63-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend Lys-63-linked ubiquitin chains in vitro. H2AK119Ub and ionizing radiation-induced Lys-63-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.
  • Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by VPRBP is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.
  • Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
  • Ubiquitination at Lys 14 and Lys 16
  • Modification sites at PhosphoSitePlus

Other Protein References for HIST2H2AC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HIST2H2AC Gene

Domains & Families for HIST2H2AC Gene

Gene Families for HIST2H2AC Gene

Protein Domains for HIST2H2AC Gene

Suggested Antigen Peptide Sequences for HIST2H2AC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16777

UniProtKB/Swiss-Prot:

H2A2C_HUMAN :
  • Belongs to the histone H2A family.
Family:
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with HIST2H2AC: view

Function for HIST2H2AC Gene

Molecular function for HIST2H2AC Gene

UniProtKB/Swiss-Prot Function:
Core component of nucleosome. 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.
genes like me logo Genes that share phenotypes with HIST2H2AC: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST2H2AC Gene

Localization for HIST2H2AC Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIST2H2AC Gene

Nucleus. Chromosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HIST2H2AC Gene COMPARTMENTS Subcellular localization image for HIST2H2AC gene
Compartment Confidence
extracellular 5
nucleus 5
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for HIST2H2AC Gene

Pathways & Interactions for HIST2H2AC Gene

SuperPathways for HIST2H2AC Gene

Superpath Contained pathways
1 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
2 Cellular Senescence
3 Chromosome Maintenance
4 Packaging Of Telomere Ends
5 Cell Cycle, Mitotic
.61
genes like me logo Genes that share pathways with HIST2H2AC: view

Gene Ontology (GO) - Biological Process for HIST2H2AC Gene

None

No data available for SIGNOR curated interactions for HIST2H2AC Gene

Drugs & Compounds for HIST2H2AC Gene

(1) Drugs for HIST2H2AC Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with HIST2H2AC: view

Transcripts for HIST2H2AC Gene

mRNA/cDNA for HIST2H2AC Gene

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

Unigene Clusters for HIST2H2AC Gene

Histone cluster 2, H2ac:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HIST2H2AC Gene

No ASD Table

Relevant External Links for HIST2H2AC Gene

GeneLoc Exon Structure for
HIST2H2AC
ECgene alternative splicing isoforms for
HIST2H2AC

Expression for HIST2H2AC Gene

mRNA expression in normal human tissues for HIST2H2AC Gene

mRNA differential expression in normal tissues according to GTEx for HIST2H2AC Gene

This gene is overexpressed in Whole Blood (x11.9).

Protein differential expression in normal tissues from HIPED for HIST2H2AC Gene

This gene is overexpressed in Saliva (34.6), Heart (14.1), and Urine (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HIST2H2AC Gene



SOURCE GeneReport for Unigene cluster for HIST2H2AC Gene Hs.408067

genes like me logo Genes that share expression patterns with HIST2H2AC: view

Protein tissue co-expression partners for HIST2H2AC Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for HIST2H2AC Gene

Orthologs for HIST2H2AC Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HIST2H2AC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HIST2H2AC 35
  • 93.02 (n)
  • 100 (a)
HIST3H2A 36
  • 96 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia LOC100855593 35
  • 91.73 (n)
  • 100 (a)
HIST2H2AC 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hist2h2ac 35
  • 88.63 (n)
  • 100 (a)
Hist2h2ac 16
Hist2h2ac 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC457261 35
  • 99.48 (n)
  • 100 (a)
HIST2H2AC 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hist2h2ac 35
  • 88.11 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia HIST2H2AC 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 95 (a)
ManyToMany
chicken
(Gallus gallus)
Aves LOC101749238 35
  • 86.05 (n)
  • 97.67 (a)
H2A-VII 36
  • 98 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486672 35
  • 78.93 (n)
  • 94.4 (a)
worm
(Caenorhabditis elegans)
Secernentea his-65 35
  • 73.92 (n)
  • 87.9 (a)
rice
(Oryza sativa)
Liliopsida Os03g0721900 35
  • 76.61 (n)
  • 79.82 (a)
Species with no ortholog for HIST2H2AC:
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for HIST2H2AC Gene

ENSEMBL:
Gene Tree for HIST2H2AC (if available)
TreeFam:
Gene Tree for HIST2H2AC (if available)

Paralogs for HIST2H2AC Gene

genes like me logo Genes that share paralogs with HIST2H2AC: view

Variants for HIST2H2AC Gene

Structural Variations from Database of Genomic Variants (DGV) for HIST2H2AC Gene

Variant ID Type Subtype PubMed ID
dgv117e1 CNV Complex 17122850
nsv428235 CNV Gain 18775914
esv2750807 CNV Gain 17911159
dgv123e1 CNV Complex 17122850
dgv125e1 CNV Complex 17122850
nsv831525 CNV Gain 17160897
essv23032 CNV CNV 17122850
nsv7182 OTHER Inversion 18451855
nsv831537 CNV Loss 17160897

Variation tolerance for HIST2H2AC Gene

Residual Variation Intolerance Score: 33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.05; 1.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HIST2H2AC Gene

HapMap Linkage Disequilibrium report
HIST2H2AC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for HIST2H2AC Gene

Disorders for HIST2H2AC Gene

MalaCards: The human disease database

(3) MalaCards diseases for HIST2H2AC Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
riddle syndrome
  • radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties
toxic pneumonitis
  • acute chemical fume pulmonary edema
amyotrophic lateral sclerosis type 6
  • amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HIST2H2AC

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HIST2H2AC
genes like me logo Genes that share disorders with HIST2H2AC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HIST2H2AC Gene

Publications for HIST2H2AC Gene

  1. The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff W.F. … Maltais L.J. (Genomics 2002) 2 3 4 67
  2. The human histone gene cluster at the D6S105 locus. (PMID: 9439656) Albig W. … Doenecke D. (Hum. Genet. 1997) 2 3
  3. A human histone H2B.1 variant gene, located on chromosome 1, utilizes alternative 3' end processing. (PMID: 1469070) Collart D. … Stein G.S. (J. Cell. Biochem. 1992) 2 3
  4. USP11 Is a Negative Regulator to I^H2AX Ubiquitylation by RNF8/RNF168. (PMID: 26507658) Yu M. … Zhao W. (J. Biol. Chem. 2016) 3
  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

Products for HIST2H2AC Gene

Sources for HIST2H2AC Gene

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