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 ... See more...

Aliases for H2AC18 Gene

Aliases for H2AC18 Gene

  • H2A Clustered Histone 18 2 3
  • Histone Cluster 2 H2A Family Member A3 2 3 5
  • H2A Histone Family, Member O 2 3
  • Histone Cluster 2, H2aa3 2 3
  • Histone 2, H2aa3 2 3
  • HIST2H2AA3 3 5
  • HIST2H2AA 3 4
  • H2AFO 3 4
  • Histone H2A Type 2-A 3
  • Histone 2, H2aa 2
  • Histone H2A.2 4
  • Histone H2A/O 4
  • H2a-615 3
  • H2A.2 3
  • H2A/O 3
  • H2A/Q 3
  • H2A 3

External Ids for H2AC18 Gene

Previous HGNC Symbols for H2AC18 Gene

  • H2AFO
  • HIST2H2AA
  • HIST2H2AA3

Previous GeneCards Identifiers for H2AC18 Gene

  • GC01M149870

Summaries for H2AC18 Gene

Entrez Gene Summary for H2AC18 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. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq, Aug 2015]

GeneCards Summary for H2AC18 Gene

H2AC18 (H2A Clustered Histone 18) is a Protein Coding gene. Diseases associated with H2AC18 include Riddle Syndrome and Acquired Metabolic Disease. Among its related pathways are Metabolism of proteins and Signaling by Wnt. An important paralog of this gene is H2AC19.

UniProtKB/Swiss-Prot Summary for H2AC18 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 H2AC18 Gene

Additional gene information for H2AC18 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for H2AC18 Gene

Genomics for H2AC18 Gene

GeneHancer (GH) Regulatory Elements for H2AC18 Gene

Promoters and enhancers for H2AC18 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
GH01J149840 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 505.3 +0.7 650 8.6 ZSCAN5C POLR2G ZNF623 AFF1 ZBTB26 CHD1 POLR2A ELK1 ZNF316 CEBPG H2AC18 ENSG00000220323 H2BC19P H3C14 lnc-HIST2H4A-1 piR-45268-001 SV2A H2AC20 H2BC21 BOLA1
GH01J149934 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6.5 -94.7 -94740 7 EP300 ZNF217 TCF12 POLR2G JUND FOS ZBTB10 CLOCK AFF1 TRIM28 MTMR11 piR-55088 SV2A H2AC18 HORMAD1 H2BC20P OTUD7B
GH01J149846 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.8 -8.2 -8208 8.1 ZSCAN5C AFF1 ZBTB26 MYC CHD1 POLR2A MXI1 OSR2 NCOR1 SIN3A H2BC20P H2AC19 H3C15 lnc-HIST2H2AA3-1 lnc-HIST2H4B-1 piR-45268-002 PRPF3 SF3B4 UBE2D3P3 ENSG00000220323
GH01J150015 Enhancer 1 Ensembl ENCODE dbSUPER 4.8 -174.0 -173990 2.7 ZNF217 USF1 ZFX ZBTB11 CTBP1 SIN3A ESRRA PBX2 NFE2 ZFHX2 SV2A MTMR11 H2BC20P H2AC18 H2AC21 OTUD7B lnc-OTUD7B-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around H2AC18 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for H2AC18

Genomic Locations for H2AC18 Gene

Genomic Locations for H2AC18 Gene
chr1:149,842,188-149,842,751
(GRCh38/hg38)
Size:
564 bases
Orientation:
Minus strand
chr1:149,813,505-149,814,478
(GRCh37/hg19)
Size:
974 bases
Orientation:
Minus strand

Genomic View for H2AC18 Gene

Genes around H2AC18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2AC18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H2AC18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2AC18 Gene

Proteins for H2AC18 Gene

  • Protein details for H2AC18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6FI13-H2A2A_HUMAN
    Recommended name:
    Histone H2A type 2-A
    Protein Accession:
    Q6FI13
    Secondary Accessions:
    • B2R5F0
    • P20670

    Protein attributes for H2AC18 Gene

    Size:
    130 amino acids
    Molecular mass:
    14095 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.

    Three dimensional structures from OCA and Proteopedia for H2AC18 Gene

neXtProt entry for H2AC18 Gene

Post-translational modifications for H2AC18 Gene

  • Deiminated on Arg-4 in granulocytes upon calcium entry.
  • Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM37 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 TRIM37 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. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). 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 DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.
  • 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).
  • Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
  • 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.
  • Ubiquitination at Lys16
  • Modification sites at PhosphoSitePlus

Other Protein References for H2AC18 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for H2AC18 Gene

Domains & Families for H2AC18 Gene

Gene Families for H2AC18 Gene

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

Protein Domains for H2AC18 Gene

Graphical View of Domain Structure for InterPro Entry

Q6FI13

UniProtKB/Swiss-Prot:

H2A2A_HUMAN :
  • Belongs to the histone H2A family.
Family:
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with H2AC18: view

No data available for Suggested Antigen Peptide Sequences for H2AC18 Gene

Function for H2AC18 Gene

Molecular function for H2AC18 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.

Phenotypes From GWAS Catalog for H2AC18 Gene

Gene Ontology (GO) - Molecular Function for H2AC18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003677 DNA binding IBA 21873635
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with H2AC18: view
genes like me logo Genes that share phenotypes with H2AC18: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for H2AC18

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for H2AC18 Gene

Localization for H2AC18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2AC18 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 H2AC18 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for H2AC18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0000790 nuclear chromatin IBA 21873635
GO:0005634 nucleus IDA 16319397
GO:0005694 chromosome IEA --
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with H2AC18: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for H2AC18 Gene

Pathways & Interactions for H2AC18 Gene

PathCards logo

SuperPathways for H2AC18 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 Chromatin organization
genes like me logo Genes that share pathways with H2AC18: view

Gene Ontology (GO) - Biological Process for H2AC18 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 H2AC18: view

No data available for SIGNOR curated interactions for H2AC18 Gene

Drugs & Compounds for H2AC18 Gene

(1) Drugs for H2AC18 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
genes like me logo Genes that share compounds with H2AC18: view

Transcripts for H2AC18 Gene

mRNA/cDNA for H2AC18 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
1 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 H2AC18

Alternative Splicing Database (ASD) splice patterns (SP) for H2AC18 Gene

No ASD Table

Relevant External Links for H2AC18 Gene

GeneLoc Exon Structure for
H2AC18

Expression for H2AC18 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for H2AC18

SOURCE GeneReport for Unigene cluster for H2AC18 Gene:

Hs.530461

Evidence on tissue expression from TISSUES for H2AC18 Gene

  • Blood(2.7)
  • Liver(2.2)
  • Spleen(2.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 H2AC18 Gene

Orthologs for H2AC18 Gene

This gene was present in the common ancestor of chordates.

Orthologs for H2AC18 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 31
  • 100 (a)
OneToMany
cow
(Bos Taurus)
Mammalia HIST2H2AC 31 31
  • 100 (a)
ManyToMany
LOC788724 30
  • 91.54 (n)
chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 100 (a)
OneToMany
HIST2H2AA4 30
  • 99.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 94 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Hist2h2aa1 31 30
  • 89.49 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC690131 30
  • 89.49 (n)
chicken
(Gallus gallus)
Aves H2A-VII 31
  • 98 (a)
ManyToMany
Species where no ortholog for H2AC18 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)
  • 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)
  • 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 H2AC18 Gene

ENSEMBL:
Gene Tree for H2AC18 (if available)
TreeFam:
Gene Tree for H2AC18 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for H2AC18: view image

Paralogs for H2AC18 Gene

Variants for H2AC18 Gene

Additional dbSNP identifiers (rs#s) for H2AC18 Gene

Structural Variations from Database of Genomic Variants (DGV) for H2AC18 Gene

Variant ID Type Subtype PubMed ID
esv1007634 OTHER inversion 20482838
nsv46 OTHER inversion 15895083
nsv469694 CNV loss 16826518
nsv499132 OTHER inversion 21111241
nsv547843 CNV loss 21841781
nsv7182 OTHER inversion 18451855
nsv824564 CNV gain 20364138
nsv831503 CNV gain 17160897
nsv831525 CNV gain 17160897
nsv946379 CNV duplication 23825009
nsv946381 CNV duplication 23825009

Additional Variant Information for H2AC18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
H2AC18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for H2AC18 Gene

Disorders for H2AC18 Gene

MalaCards: The human disease database

(415) MalaCards diseases for H2AC18 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
riddle syndrome
  • ridl
acquired metabolic disease
parasitic protozoa infectious disease
  • mastigophora infectious disease
retinal cancer
  • malignant neoplasm of retina
splenic disease
  • dyssplenism
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with H2AC18: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for H2AC18 Gene

Publications for H2AC18 Gene

  1. The relative expression of human histone H2A genes is similar in different types of proliferating cells. (PMID: 8179821) Mannironi C … Bonner W (DNA and cell biology 1994) 2 3 4 54
  2. RNF168 ubiquitinates K13-15 on H2A/H2AX to drive DNA damage signaling. (PMID: 22980979) Mattiroli F … Sixma TK (Cell 2012) 3 4 54
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  4. DNA damage triggers nucleotide excision repair-dependent monoubiquitylation of histone H2A. (PMID: 16702407) Bergink S … Dantuma NP (Genes & development 2006) 3 4 54
  5. 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

Products for H2AC18 Gene

Sources for H2AC18 Gene