Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HIST2H2AC Gene

Aliases for HIST2H2AC Gene

  • Histone Cluster 2 H2A Family Member C 2 3 5
  • 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
  • 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 H2A Family Member C) is a Protein Coding gene. Diseases associated with HIST2H2AC include Retinitis Pigmentosa 20 and Cleft Palate, Isolated. Among its related pathways are Meiosis and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is HIST2H2AA4.

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

Additional gene information for HIST2H2AC Gene

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

Genomics for HIST2H2AC Gene

GeneHancer (GH) Regulatory Elements for HIST2H2AC Gene

Promoters and enhancers for HIST2H2AC 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 HIST2H2AC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HIST2H2AC gene promoter:
  • GCNF
  • GCNF-1
  • GCNF-2
  • POU3F1
  • TBP
  • USF-1
  • USF-1:USF-2
  • USF1

Genomic Locations for HIST2H2AC Gene

Genomic Locations for HIST2H2AC Gene
chr1:149,886,975-149,887,411
(GRCh38/hg38)
Size:
437 bases
Orientation:
Plus strand
chr1:149,858,525-149,858,961
(GRCh37/hg19)
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

Post-translational modifications for HIST2H2AC Gene

  • Deiminated on Arg-4 in granulocytes upon calcium entry.
  • 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. 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 posLast=1414 and posLast=1616
  • 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

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

Protein Domains for HIST2H2AC Gene

Suggested Antigen Peptide Sequences for HIST2H2AC 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 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.

Phenotypes From GWAS Catalog for HIST2H2AC Gene

Gene Ontology (GO) - Molecular Function for HIST2H2AC 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 HIST2H2AC: view
genes like me logo Genes that share phenotypes with HIST2H2AC: view

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for HIST2H2AC - Now 50% OFF >
  • * HIST2H2AC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * HIST2H2AC tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , 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
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 HIST2H2AC gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for HIST2H2AC 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 20458337
genes like me logo Genes that share ontologies with HIST2H2AC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HIST2H2AC Gene

Pathways & Interactions for HIST2H2AC Gene

PathCards logo

SuperPathways for HIST2H2AC 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 HIST2H2AC: view

Gene Ontology (GO) - Biological Process for HIST2H2AC 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 HIST2H2AC: view

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 Approved Nutra 7611
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 to gene/alias where relevant :

Unigene Clusters for HIST2H2AC Gene

Histone cluster 2, H2ac:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for HIST2H2AC - Now 50% OFF >
  • * HIST2H2AC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * HIST2H2AC tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for HIST2H2AC Gene



Protein tissue co-expression partners for HIST2H2AC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HIST2H2AC Gene:

HIST2H2AC

SOURCE GeneReport for Unigene cluster for HIST2H2AC Gene:

Hs.408067

Evidence on tissue expression from TISSUES for HIST2H2AC Gene

  • Blood(4.5)
  • Lung(4.4)
  • Liver(2.8)
  • Spleen(2.6)
  • Kidney(2)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with HIST2H2AC: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
dog
(Canis familiaris)
Mammalia HIST2H2AC 35
  • 100 (a)
OneToOne
LOC100855593 34
  • 91.73 (n)
chimpanzee
(Pan troglodytes)
Mammalia HIST2H2AC 35
  • 100 (a)
OneToOne
LOC457261 34
  • 99.48 (n)
oppossum
(Monodelphis domestica)
Mammalia HIST2H2AC 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HIST3H2A 35
  • 96 (a)
ManyToMany
HIST2H2AC 34
  • 93.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 95 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Hist2h2ac 34 35 17
  • 88.63 (n)
rat
(Rattus norvegicus)
Mammalia Hist2h2ac 34
  • 88.11 (n)
chicken
(Gallus gallus)
Aves H2A-VII 35
  • 98 (a)
ManyToMany
LOC101749238 34
  • 86.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486672 34
  • 78.93 (n)
worm
(Caenorhabditis elegans)
Secernentea his-57 34
  • 73.92 (n)
rice
(Oryza sativa)
Liliopsida Os03g0721900 34
  • 76.61 (n)
Species where no ortholog for HIST2H2AC 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HIST2H2AC: view image

Paralogs for HIST2H2AC Gene

Variants for HIST2H2AC Gene

Sequence variations from dbSNP and Humsavar for HIST2H2AC Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1002085119 -- 149,885,572(+) G/A upstream_transcript_variant
rs1004208294 -- 149,886,803(+) C/T upstream_transcript_variant
rs1005621517 -- 149,885,489(+) G/C upstream_transcript_variant
rs1008980388 -- 149,887,855(+) C/T downstream_transcript_variant
rs1014554334 -- 149,887,856(+) G/A downstream_transcript_variant

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

Additional Variant Information for HIST2H2AC Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIST2H2AC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST2H2AC Gene

Disorders for HIST2H2AC Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 WF … Maltais LJ (Genomics 2002) 2 3 4 58
  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 58
  3. USP51 deubiquitylates H2AK13,15ub and regulates DNA damage response. (PMID: 27083998) Wang Z … Zhang Z (Genes & development 2016) 3 4 58
  4. TRIM37 is a new histone H2A ubiquitin ligase and breast cancer oncoprotein. (PMID: 25470042) Bhatnagar S … Green MR (Nature 2014) 3 4 58
  5. RNF168 ubiquitinates K13-15 on H2A/H2AX to drive DNA damage signaling. (PMID: 22980979) Mattiroli F … Sixma TK (Cell 2012) 3 4 58

Products for HIST2H2AC Gene

  • Biorbyt antibodies for HIST2H2AC

Sources for HIST2H2AC Gene

Content
Loading form....