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 H2AC20 Gene

Aliases for H2AC20 Gene

  • H2A Clustered Histone 20 2 3 5
  • Histone Cluster 2 H2A Family Member C 2 3
  • H2A Histone Family, Member Q 2 3
  • Histone Cluster 2, H2ac 2 3
  • Histone H2A Type 2-C 3 4
  • Histone H2A-GL101 3 4
  • Histone 2, H2ac 2 3
  • Histone H2A/Q 3 4
  • HIST2H2AC 3 4
  • H2A/Q 2 3
  • H2AFQ 3 4
  • H2A-Clustered Histone 20 4
  • Histone IIa 3
  • H2A-GL101 3
  • H2AC20 5
  • H2A 3

External Ids for H2AC20 Gene

Previous HGNC Symbols for H2AC20 Gene

  • H2A
  • H2AFQ
  • HIST2H2AC

Previous GeneCards Identifiers for H2AC20 Gene

  • GC01P149893
  • GC01P149906

Summaries for H2AC20 Gene

Entrez Gene Summary for H2AC20 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 H2AC20 Gene

H2AC20 (H2A Clustered Histone 20) is a Protein Coding gene. Diseases associated with H2AC20 include Riddle Syndrome and Xeroderma Pigmentosum Group E. Among its related pathways are Chromatin organization and Signaling by GPCR. An important paralog of this gene is H2AC18.

UniProtKB/Swiss-Prot Summary for H2AC20 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 H2AC20 Gene

Additional gene information for H2AC20 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for H2AC20 Gene

Genomics for H2AC20 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for H2AC20 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 H2AC20 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for H2AC20

Genomic Locations for H2AC20 Gene

Genomic Locations for H2AC20 Gene
chr1:149,886,918-149,887,411
(GRCh38/hg38)
Size:
494 bases
Orientation:
Plus strand
chr1:149,858,525-149,858,961
(GRCh37/hg19)
Size:
437 bases
Orientation:
Plus strand

Genomic View for H2AC20 Gene

Genes around H2AC20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2AC20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H2AC20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2AC20 Gene

Proteins for H2AC20 Gene

  • Protein details for H2AC20 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 H2AC20 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 H2AC20 Gene

Post-translational modifications for H2AC20 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.
  • Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
  • 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).
  • 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 H2AC20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for H2AC20 Gene

Domains & Families for H2AC20 Gene

Gene Families for H2AC20 Gene

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

Protein Domains for H2AC20 Gene

Suggested Antigen Peptide Sequences for H2AC20 Gene

GenScript: Design optimal peptide antigens:
  • Histone H2A/q (H2A2C_HUMAN)

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 H2AC20: view

Function for H2AC20 Gene

Molecular function for H2AC20 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 H2AC20 Gene

Gene Ontology (GO) - Molecular Function for H2AC20 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 H2AC20: view
genes like me logo Genes that share phenotypes with H2AC20: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for H2AC20

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for H2AC20 Gene

Localization for H2AC20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2AC20 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 H2AC20 gene
Compartment Confidence
nucleus 5
extracellular 4
plasma membrane 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 H2AC20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0000790 nuclear chromatin IBA 21873635
GO:0005634 nucleus IEA,IDA 16319397
GO:0005694 chromosome IEA --
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with H2AC20: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for H2AC20 Gene

Pathways & Interactions for H2AC20 Gene

PathCards logo

SuperPathways for H2AC20 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 H2AC20: view

Pathways by source for H2AC20 Gene

Gene Ontology (GO) - Biological Process for H2AC20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IBA 21873635
GO:0006342 chromatin silencing IBA 21873635
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with H2AC20: view

No data available for SIGNOR curated interactions for H2AC20 Gene

Drugs & Compounds for H2AC20 Gene

(1) Drugs for H2AC20 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with H2AC20: view

Transcripts for H2AC20 Gene

mRNA/cDNA for H2AC20 Gene

1 REFSEQ mRNAs :
1 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 H2AC20

Alternative Splicing Database (ASD) splice patterns (SP) for H2AC20 Gene

No ASD Table

Relevant External Links for H2AC20 Gene

GeneLoc Exon Structure for
H2AC20

Expression for H2AC20 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for H2AC20

SOURCE GeneReport for Unigene cluster for H2AC20 Gene:

Hs.408067

Evidence on tissue expression from TISSUES for H2AC20 Gene

  • Blood(4.6)
  • Lung(4.5)
  • Liver(3.2)
  • Muscle(3)
  • Skin(2.9)
  • Nervous system(2.9)
  • Kidney(2.8)
  • Intestine(2.8)
  • Stomach(2.7)
  • Spleen(2.7)
  • Heart(2.6)
  • Bone marrow(2.6)
  • Pancreas(2.4)
  • Lymph node(2.2)
  • Eye(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 H2AC20 Gene

Orthologs for H2AC20 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for H2AC20 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HIST2H2AC 31
  • 100 (a)
OneToOne
LOC457261 30
  • 99.48 (n)
Dog
(Canis familiaris)
Mammalia HIST2H2AC 31
  • 100 (a)
OneToOne
LOC100855593 30
  • 91.73 (n)
Oppossum
(Monodelphis domestica)
Mammalia HIST2H2AC 31
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia HIST3H2A 31
  • 96 (a)
ManyToMany
HIST2H2AC 30
  • 93.02 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 95 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Hist2h2ac 30 31
  • 88.63 (n)
OneToOne
H2ac20 17
Rat
(Rattus norvegicus)
Mammalia Hist2h2ac 30
  • 88.11 (n)
Chicken
(Gallus gallus)
Aves H2A-VII 31
  • 98 (a)
ManyToMany
LOC101749238 30
  • 86.05 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100486672 30
  • 78.93 (n)
Worm
(Caenorhabditis elegans)
Secernentea his-47 30
  • 73.92 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0721900 30
  • 76.61 (n)
Species where no ortholog for H2AC20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 H2AC20 Gene

ENSEMBL:
Gene Tree for H2AC20 (if available)
TreeFam:
Gene Tree for H2AC20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for H2AC20: view image

Paralogs for H2AC20 Gene

Variants for H2AC20 Gene

Additional dbSNP identifiers (rs#s) for H2AC20 Gene

Structural Variations from Database of Genomic Variants (DGV) for H2AC20 Gene

Variant ID Type Subtype PubMed ID
nsv7182 OTHER inversion 18451855
nsv831525 CNV gain 17160897
nsv831537 CNV loss 17160897
nsv946382 CNV duplication 23825009

Variation tolerance for H2AC20 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)

Additional Variant Information for H2AC20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
H2AC20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for H2AC20 Gene

Disorders for H2AC20 Gene

MalaCards: The human disease database

(12) MalaCards diseases for H2AC20 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
riddle syndrome
  • ridl
xeroderma pigmentosum group e
  • xeroderma pigmentosum, complementation group e
angelman syndrome
  • as
hyperinsulinemic hypoglycemia, familial, 2
  • persistent hyperinsulinemic hypoglycemia of infancy; phhi
hyperoxaluria, primary, type i
  • hp1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for H2AC20

genes like me logo Genes that share disorders with H2AC20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for H2AC20 Gene

Publications for H2AC20 Gene

  1. The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff WF … Maltais LJ (Genomics 2002) 2 3 4
  2. A human histone H2B.1 variant gene, located on chromosome 1, utilizes alternative 3' end processing. (PMID: 1469070) Collart D … Stein GS (Journal of cellular biochemistry 1992) 2 3 4
  3. USP51 deubiquitylates H2AK13,15ub and regulates DNA damage response. (PMID: 27083998) Wang Z … Zhang Z (Genes & development 2016) 3 4
  4. TRIM37 is a new histone H2A ubiquitin ligase and breast cancer oncoprotein. (PMID: 25470042) Bhatnagar S … Green MR (Nature 2014) 3 4
  5. RNF168 ubiquitinates K13-15 on H2A/H2AX to drive DNA damage signaling. (PMID: 22980979) Mattiroli F … Sixma TK (Cell 2012) 3 4

Products for H2AC20 Gene

Sources for H2AC20 Gene