Aliases for HIST1H2BC Gene
Aliases for HIST1H2BC Gene
- Histone Cluster 1 H2B Family Member C 2 3 5
- H2B Histone Family, Member L 2 3
- Histone Cluster 1, H2bc 2 3
- Histone 1, H2bc 2 3
- Histone H2B.1 A 3 4
- Histone H2B.L 3 4
- H2BFL 3 4
- H2B/L 3 4
- HIST1H2BC HIST1H2BE HIST1H2BF HIST1H2BG HIST1H2BI 4
- Histone H2B Type 1-C/E/F/G/I 3
- Histone H2B.A 4
- Histone H2B.G 4
- Histone H2B.H 4
External Ids for HIST1H2BC Gene
- HGNC: 4757
- Entrez Gene: 8347
- Ensembl: ENSG00000180596
- OMIM: 602847
- UniProtKB: P62807
Previous HGNC Symbols for HIST1H2BC Gene
- H2BFL
Previous GeneCards Identifiers for HIST1H2BC Gene
- GC06M026172
- GC06M026222
- GC06M026066
- GC06M026115
- GC06M026127
- GC06M026128
- GC06M026176
- GC06M026187
- GC06M026200
Summaries for HIST1H2BC 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. The protein has antibacterial and antifungal antimicrobial activity. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
GeneCards Summary for HIST1H2BC Gene
HIST1H2BC (Histone Cluster 1 H2B Family Member C) is a Protein Coding gene. Among its related pathways are DNA Double-Strand Break Repair and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is HIST1H2BG.
UniProtKB/Swiss-Prot for HIST1H2BC 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.
-
Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST1H2BC Gene
Genomics for HIST1H2BC Gene
Regulatory Elements for HIST1H2BC Gene
Enhancers for HIST1H2BC 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 |
|---|---|---|---|---|---|---|---|---|
| GH06G026520 | 1.6 | FANTOM5 ENCODE | 1.4 | -397.8 | -397835 | 3.4 | CREB3L1 MLX DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 MEF2D SSRP1 | ABT1 HMGN4 LOC102724851 BTN1A1 HIST1H2APS4 HIST1H3G BTN3A3 BTN2A1 BTN3A2 BTN3A1 |
| GH06G026120 | 2.1 | FANTOM5 Ensembl ENCODE dbSUPER | 0.7 | 0.0 | -49 | 7.8 | CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 SP3 NFYC TBX21 SSRP1 | ABT1 ENSG00000272462 HMGN4 NUP50P2 ZNF322 HFE BTN3A2 HIST1H1C HIST1H2APS5 BTN3A1 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HIST1H2BC on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HIST1H2BC gene promoter:
Regulatory Element Products
Genomic Location for HIST1H2BC Gene
- Chromosome:
- 6
- Start:
- 26,114,873 bp from pter
- End:
- 26,123,926 bp from pter
- Size:
- 9,054 bases
- Orientation:
- Minus strand
Genomic View for HIST1H2BC Gene
Genes around HIST1H2BC on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.2 by Ensembl
- 6p22.2 by Entrez Gene
- 6p22.2 by HGNC
HIST1H2BC 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 HIST1H2BC Gene
Proteins for HIST1H2BC Gene
-
Protein details for HIST1H2BC Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P62807-H2B1C_HUMAN
- Recommended name:
- Histone H2B type 1-C/E/F/G/I
- Protein Accession:
- P62807
- P02278
- Q3B872
- Q4VB69
- Q93078
- Q93080
Protein attributes for HIST1H2BC Gene
- Size:
- 126 amino acids
- Molecular mass:
- 13906 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.
- 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.
- 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.
- 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.
- 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 HIST1H2BC Gene
Post-translational modifications for HIST1H2BC 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.
- GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes.
- Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 Lys-4 (H3K4me) and Lys-79 (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 Lys-4 and Lys-79 methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons.
- Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation. Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination.
- Ubiquitination at isoforms=121
- Glycosylation at isoforms=113
- Modification sites at PhosphoSitePlus
Other Protein References for HIST1H2BC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore top HIST1H2BC Antibody
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for HIST1H2BC
- Invitrogen Antibodies for HIST1H2BC
- antibodies-online Antibodies for HIST1H2BC: See all 13
- Search GeneTex for Antibodies for HIST1H2BC
Protein Products
-
OriGene Purified Proteins for HIST1H2BC
- Search Origene for MassSpec and Protein Over-expression Lysates for HIST1H2BC
- Origene Custom Protein Services for HIST1H2BC
- antibodies-online Proteins for HIST1H2BC: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HIST1H2BC
Assay Products
No data available for DME Specific Peptides for HIST1H2BC Gene
Domains & Families for HIST1H2BC Gene
Gene Families for HIST1H2BC Gene
- HGNC:
Protein Domains for HIST1H2BC Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HIST1H2BC Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P62807- Family:
-
- Belongs to the histone H2B family.
Function for HIST1H2BC Gene
Molecular function for HIST1H2BC 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.
- UniProtKB/Swiss-Prot Function:
- Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | NAS,IBA | 422550 |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0046982 | protein heterodimerization activity | IEA | -- |
Phenotypes for HIST1H2BC Gene
- GenomeRNAi human phenotypes for HIST1H2BC:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HIST1H2BC gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2BC gene
- Search ViGene Biosciences for HIST1H2BC
CRISPR Products
-
OriGene CRISPR knockouts for HIST1H2BC
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST1H2BC
- GenScript: Design CRISPR guide RNA sequences for HIST1H2BC
miRNA for HIST1H2BC Gene
- miRTarBase miRNAs that target HIST1H2BC
miRNA Products
- Search ViGene Biosciences for HIST1H2BC
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HIST1H2BC
- Browse OriGene Inhibitory RNA Products For HIST1H2BC
-
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Clone Products
-
OriGene ORF clones in human for HIST1H2BC
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Cell Line Products
-
Horizon Cell Lines for HIST1H2BC
-
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-
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-
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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 HIST1H2BC Gene
Localization for HIST1H2BC Gene
Subcellular locations from UniProtKB/Swiss-Prot for HIST1H2BC Gene
- Nucleus. Chromosome.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 4 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000786 | nucleosome | NAS | 422550 |
| GO:0005615 | extracellular space | IDA | 12860195 |
| GO:0005634 | nucleus | IDA | 21630459 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005694 | chromosome | IEA | -- |
Pathways & Interactions for HIST1H2BC Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
.88
|
.34
|
| 2 | DNA Double-Strand Break Repair |
.53
|
|
| 3 | Cellular Senescence | ||
| 4 | Chromosome Maintenance | ||
| 5 | Cell Cycle, Mitotic |
.83
|
.60
|
Pathways by source for HIST1H2BC Gene
68 Reactome pathways for HIST1H2BC 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
3 KEGG pathways for HIST1H2BC Gene
1 GeneGo (Thomson Reuters) pathway for HIST1H2BC Gene
Interacting Proteins for HIST1H2BC Gene
Selected Interacting proteins:
P62807-H2B1C_HUMAN
ENSP00000321744
for HIST1H2BC Gene via
MINT
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002227 | innate immune response in mucosa | IDA | 12860195 |
| GO:0006334 | nucleosome assembly | NAS | 422550 |
| GO:0016567 | protein ubiquitination | TAS | -- |
| GO:0019731 | antibacterial humoral response | IDA | 12860195 |
| GO:0042742 | defense response to bacterium | IEA | -- |
No data available for SIGNOR curated interactions for HIST1H2BC Gene
Transcripts for HIST1H2BC Gene
mRNA/cDNA for HIST1H2BC Gene
- (1) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (74) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HIST1H2BC Gene
CRISPR Products
-
OriGene CRISPR knockouts for HIST1H2BC
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST1H2BC
- GenScript: Design CRISPR guide RNA sequences for HIST1H2BC
miRNA Products
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Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HIST1H2BC
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-
ViGene Biosciences ready-to-package AAV shRNAs for HIST1H2BC gene
Clone Products
-
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Flow Cytometry Products
Expression for HIST1H2BC Gene
mRNA differential expression in normal tissues according to GTEx for HIST1H2BC Gene
This gene is overexpressed in Whole Blood (x16.5).
This gene is overexpressed in Saliva (22.6), Tlymphocyte (8.2), Ovary (7.9), and Monocytes (7.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HIST1H2BC Gene
NURSA nuclear receptor signaling pathways regulating expression of HIST1H2BC Gene:
HIST1H2BCSOURCE GeneReport for Unigene cluster for HIST1H2BC Gene:
Hs.658713Evidence on tissue expression from TISSUES for HIST1H2BC Gene
- Lung(4.2)
- Spleen(4.2)
Primer Products
-
OriGene qPCR primer pairs and template standards for HIST1H2BC
-
OriGene qPCR primer pairs for HIST1H2BC
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 HIST1H2BC Gene
Orthologs for HIST1H2BC Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | HIST1H2BC 35 |
|
OneToOne | |
| LOC488267 34 |
|
||||
| mouse (Mus musculus) |
Mammalia | Hist1h2bc 35 |
|
OneToOne | |
| Hist1h2bg 34 16 |
|
||||
| chimpanzee (Pan troglodytes) |
Mammalia | HIST1H2BC 35 |
|
OneToOne | |
| LOC100609614 34 |
|
||||
| cow (Bos Taurus) |
Mammalia | H2B 35 |
|
OneToOne | |
| LOC616868 34 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | LOC100910200 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany |
- Species where no ortholog for HIST1H2BC 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)
- chicken (Gallus gallus)
- 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)
- platypus (Ornithorhynchus anatinus)
- 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)
Paralogs for HIST1H2BC Gene
Paralogs for HIST1H2BC Gene
(23) SIMAP similar genes for HIST1H2BC Gene using alignment to 2 proteins:
Variants for HIST1H2BC Gene
| SNP ID | Clin | Chr 06 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000511689 | -- | 26,123,136(+) | GGCTA(A/G)AAGCT | downstream-variant-500B, upstream-variant-2KB | |
| rs1000779831 | -- | 26,124,984(+) | TAAAA(A/G)TGTAA | downstream-variant-500B, upstream-variant-2KB | |
| rs1002014735 | -- | 26,123,329(+) | GCTGG(C/T)TTCTT | downstream-variant-500B, upstream-variant-2KB | |
| rs1002069803 | -- | 26,124,684(+) | AGAGC(C/T)CCCCT | upstream-variant-2KB, utr-variant-3-prime | |
| rs1003033221 | -- | 26,125,351(+) | ACTTT(G/T)GGAGG | upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5926n100 | CNV | gain | 25217958 |
| esv3608393 | CNV | gain | 21293372 |
| nsv1023453 | CNV | gain | 25217958 |
| nsv428137 | CNV | loss | 18775914 |
| nsv970082 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
22.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.32;
7.02% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HIST1H2BC Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HIST1H2BC
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H2BC Gene
Disorders for HIST1H2BC Gene
Relevant External Links for HIST1H2BC
No disorders were found for HIST1H2BC Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HIST1H2BC Gene
Publications for HIST1H2BC Gene
- The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff W.F. … Maltais L.J. (Genomics 2002) 2 3 4 64
- Human histone gene organization: nonregular arrangement within a large cluster. (PMID: 9119399) Albig W. … Doenecke D. (Genomics 1997) 2 3 4 64
- Genome-wide association meta-analysis for total serum bilirubin levels. (PMID: 19414484) Johnson A.D. … Witteman J.C. (Hum. Mol. Genet. 2009) 3 46 64
- Antimicrobial peptides in the first line defence of human colon mucosa. (PMID: 12860195) Tollin M. … Agerberth B. (Peptides 2003) 3 4 64
- Human spleen histone H2B. Isolation and amino acid sequence. (PMID: 422550) Ohe Y. … Iwai K. (J. Biochem. 1979) 3 4 64
Products for HIST1H2BC Gene
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- Yeast expression
Sources for HIST1H2BC Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
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