Aliases for HIST2H2AC Gene
Aliases for HIST2H2AC Gene
External Ids for HIST2H2AC Gene
- HGNC: 4738
- Entrez Gene: 8338
- Ensembl: ENSG00000184260
- OMIM: 602797
- UniProtKB: Q16777
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
-
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.
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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HIST2H2AC on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HIST2H2AC gene promoter:
Regulatory Element Products
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:
-
- 1q21.2 by Ensembl
- 1q21.2 by Entrez Gene
- 1q21.2 by HGNC
HIST2H2AC Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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:
Antibody Products
- EMD Millipore top HIST2H2AC Antibody
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-
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Protein Products
-
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-
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- Search GeneTex for Proteins for HIST2H2AC
Assay Products
No data available for DME Specific Peptides for HIST2H2AC Gene
Domains & Families for HIST2H2AC Gene
Gene Families for HIST2H2AC Gene
- HGNC:
Protein Domains for HIST2H2AC Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HIST2H2AC Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q16777- Family:
-
- Belongs to the histone H2A family.
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0003677 | DNA binding | IBA | -- |
| GO:0046982 | protein heterodimerization activity | IEA | -- |
Phenotypes for HIST2H2AC Gene
- GenomeRNAi human phenotypes for HIST2H2AC:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability in esophageal squamous lineage
- Dynamic nuclei (hole, folded or small irregular)
- Decreased NF-kappaB reporter expression
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability of wild-type and TP53 knockout cells
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HIST2H2AC gene
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CRISPR Products
-
OriGene CRISPR knockouts for HIST2H2AC
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST2H2AC
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miRNA for HIST2H2AC Gene
- miRTarBase miRNAs that target HIST2H2AC
-
- hsa-mir-1-3p (MIRT023579)
- hsa-mir-34a-5p (MIRT025241)
- hsa-mir-1301-3p (MIRT035964)
- hsa-mir-92b-3p (MIRT040707)
- hsa-mir-221-3p (MIRT046844)
- hsa-mir-133b (MIRT517422)
- hsa-mir-133a-3p (MIRT517423)
- hsa-mir-6848-3p (MIRT517424)
- hsa-mir-6843-3p (MIRT517425)
- hsa-mir-6741-5p (MIRT517426)
- hsa-mir-6736-5p (MIRT517427)
- hsa-mir-4701-3p (MIRT517428)
- hsa-mir-1262 (MIRT517429)
- hsa-mir-8057 (MIRT517430)
- hsa-mir-4483 (MIRT517431)
- hsa-mir-1293 (MIRT517432)
- hsa-mir-6766-5p (MIRT517433)
- hsa-mir-6756-5p (MIRT517434)
- hsa-mir-6745 (MIRT517435)
- hsa-mir-363-5p (MIRT517436)
- hsa-mir-760 (MIRT517437)
- hsa-mir-6822-3p (MIRT517438)
- hsa-mir-9-5p (MIRT517439)
- hsa-mir-520f-5p (MIRT517440)
- hsa-mir-1276 (MIRT517441)
miRNA Products
- Search ViGene Biosciences for HIST2H2AC
Inhibitory RNA Products
- Origene siRNA, shRNA, and RNAi products in human, mouse, rat for HIST2H2AC
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Clone Products
-
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Cell Line Products
-
Horizon Cell Lines for HIST2H2AC
-
ViGene Biosciences adenoviral particle packaged cDNA for HIST2H2AC gene
-
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Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| 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 |
Pathways & Interactions for HIST2H2AC Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
.88
|
.34
|
| 2 | Cellular Senescence | ||
| 3 | Chromosome Maintenance | ||
| 4 | Cell Cycle, Mitotic |
.83
|
.60
|
| 5 | Chromatin organization | ||
Pathways by source for HIST2H2AC Gene
1 GeneTex pathway for HIST2H2AC Gene
58 Reactome pathways for HIST2H2AC Gene
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Activation of HOX genes during differentiation
- Amyloid fiber formation
- B-WICH complex positively regulates rRNA expression
2 KEGG pathways for HIST2H2AC Gene
1 GeneGo (Thomson Reuters) pathway for HIST2H2AC Gene
Interacting Proteins for HIST2H2AC Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006342 | chromatin silencing | IBA | -- |
| GO:0008150 | biological_process | ND | -- |
No data available for SIGNOR curated interactions for HIST2H2AC Gene
Drugs & Compounds for HIST2H2AC Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Nutra | 0 |
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
CRISPR Products
-
OriGene CRISPR knockouts for HIST2H2AC
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST2H2AC
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miRNA Products
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Inhibitory RNA Products
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Clone Products
-
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Flow Cytometry Products
Expression for HIST2H2AC Gene
mRNA differential expression in normal tissues according to GTEx for HIST2H2AC Gene
This gene is overexpressed in Whole Blood (x11.9).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HIST2H2AC Gene:
HIST2H2ACSOURCE GeneReport for Unigene cluster for HIST2H2AC Gene:
Hs.408067Evidence 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)
Primer Products
-
OriGene qPCR primer pairs for HIST2H2AC
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | HIST2H2AC 35 |
|
OneToOne | |
| LOC100855593 34 |
|
||||
| chimpanzee (Pan troglodytes) |
Mammalia | HIST2H2AC 35 |
|
OneToOne | |
| LOC457261 34 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | HIST2H2AC 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | HIST3H2A 35 |
|
ManyToMany | |
| HIST2H2AC 34 |
|
||||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
ManyToMany | |
| mouse (Mus musculus) |
Mammalia | Hist2h2ac 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hist2h2ac 34 |
|
||
| chicken (Gallus gallus) |
Aves | H2A-VII 35 |
|
ManyToMany | |
| LOC101749238 34 |
|
||||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100486672 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | his-47 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0721900 34 |
|
- 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)
Paralogs for HIST2H2AC Gene
Paralogs for HIST2H2AC Gene
(26) SIMAP similar genes for HIST2H2AC Gene using alignment to 1 proteins:
Variants 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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| retinitis pigmentosa 20 |
|
|
Search HIST2H2AC in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HIST2H2AC
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- HIST2H2AC
No data available for UniProtKB/Swiss-Prot and Genatlas for HIST2H2AC Gene
Publications for HIST2H2AC Gene
- The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff W.F. … Maltais L.J. (Genomics 2002) 2 3 4 64
- 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
- TRIM37 is a new histone H2A ubiquitin ligase and breast cancer oncoprotein. (PMID: 25470042) Bhatnagar S. … Green M.R. (Nature 2014) 3 4 64
- RNF168 ubiquitinates K13-15 on H2A/H2AX to drive DNA Damage signaling. (PMID: 22980979) Mattiroli F. … Sixma T.K. (Cell 2012) 3 4 64
- 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
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- Yeast expression
Sources for HIST2H2AC Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
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