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-GL101 3 4
  • Histone 2, H2ac 2 3
  • Histone H2A/Q 3 4
  • H2AFQ 3 4
  • Histone H2A Type 2-C 3
  • 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. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Meiosis. 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

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G150008 1.8 FANTOM5 ENCODE dbSUPER 10.4 +123.2 123234 2.9 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 MTMR11 PRPF3 SETDB1 ADAMTSL4 SV2A UBE2D3P3 CTSK HIST2H2AB HIST2H2AC HIST2H2BE
GH01G149846 1.3 Ensembl ENCODE dbSUPER 12 -38.3 -38283 3.6 TBP FOXA2 SIN3A ZSCAN5C BCLAF1 SMAD5 GLIS1 IKZF1 HMBOX1 HNF4A BOLA1 HIST2H2AC HIST2H2BE MTMR11 ENSG00000261716 HIST2H2AA3 LOC102723955 ENSG00000272993
GH01G150177 1.4 Ensembl ENCODE dbSUPER 10.6 +291.2 291162 1.3 ATF1 SIN3A FEZF1 ZBTB40 ZNF335 GLIS2 EGR1 SCRT2 FOS PCBP1 PLEKHO1 BOLA1 HIST2H2AC HIST2H2BE CIART LOC105371433 GC01P150213
GH01G149843 1.1 ENCODE dbSUPER 12.9 -42.1 -42108 3.1 TBP AGO1 INSM2 SIN3A ELK1 ZSCAN5C RCOR1 FOS SMAD5 CEBPB SV2A HIST2H2AC HIST2H2BE BOLA1 MTMR11 ENSG00000261716 HIST2H2AA3 GC01P149843 ENSG00000272993
GH01G150191 1.3 Ensembl ENCODE 10.8 +305.3 305259 2.1 HDGF FOXA2 PKNOX1 ATF1 ARNT CREB3L1 SIN3A ARID4B ZNF2 GLIS2 PLEKHO1 VPS45 MTMR11 HIST2H2AC HIST2H2BE BOLA1 SF3B4 C1orf54 APH1A CA14
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000013441 225 4401 MLX CREB3L1 AGO1 ZFP64 FEZF1 YY1 ZNF143 ZNF263 SP3 NFYC

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

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 isoforms=14 and isoforms=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.

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 --
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

Inhibitory RNA Products

Clone Products

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
extracellular 5
nucleus 5
plasma membrane 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 --
GO:0005634 nucleus IDA 16319397
GO:0005694 chromosome IEA --
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with HIST2H2AC: view

Pathways & Interactions for HIST2H2AC Gene

SuperPathways for HIST2H2AC Gene

SuperPathway Contained pathways
1 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
2 Cellular Senescence
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:0006342 chromatin silencing IBA --
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 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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, PaxDb, 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

Primer Products

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 16 35
  • 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-47 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)

Paralogs for HIST2H2AC Gene

Variants for HIST2H2AC Gene

Sequence variations from dbSNP and Humsavar for HIST2H2AC Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1002085119 -- 149,885,572(+) AATGA(A/G)AAATA upstream-variant-2KB, utr-variant-3-prime
rs1004208294 -- 149,886,803(+) AACAA(C/T)ACCGA upstream-variant-2KB
rs1005621517 -- 149,885,489(+) ACATG(C/G)TAAGT upstream-variant-2KB, utr-variant-3-prime
rs1008980388 -- 149,887,855(+) CAGCG(C/T)GGGAC downstream-variant-500B, upstream-variant-2KB, reference, missense
rs1014554334 -- 149,887,856(+) AGCGC(A/G)GGACG downstream-variant-500B, upstream-variant-2KB, reference, missense

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)

Relevant External Links 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

(1) MalaCards diseases for HIST2H2AC Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 20
  • rp20
- 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 64
  2. 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 64
  3. TRIM37 is a new histone H2A ubiquitin ligase and breast cancer oncoprotein. (PMID: 25470042) Bhatnagar S. … Green M.R. (Nature 2014) 3 4 64
  4. RNF168 ubiquitinates K13-15 on H2A/H2AX to drive DNA Damage signaling. (PMID: 22980979) Mattiroli F. … Sixma T.K. (Cell 2012) 3 4 64
  5. The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. (PMID: 19203578) Stewart G.S. … Durocher D. (Cell 2009) 3 4 64

Products for HIST2H2AC Gene

Sources for HIST2H2AC Gene

Content
Loading form....