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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 H4C2 Gene
Aliases for H4C2 Gene
- H4 Clustered Histone 2 2 3 5
- H4/I 2 3 4
- Histone Cluster 1 H4 Family Member B 2 3
- H4 Histone Family, Member I 2 3
- Histone Cluster 1, H4b 2 3
- Histone 1, H4b 2 3
- Histone H4 3 4
- HIST1H4B 3 4
- H4FI 3 4
- HIST1H4A 4
- HIST1H4C 4
- HIST1H4D 4
- HIST1H4E 4
- HIST1H4F 4
- HIST1H4H 4
- HIST1H4I 4
- HIST1H4J 4
- HIST1H4K 4
- HIST1H4L 4
- HIST2H4A 4
- HIST2H4B 4
- HIST2H4 4
- HIST4H4 4
- H4-16 3
- H4C11 3
- H4C12 3
- H4C13 3
- H4C14 3
- H4C15 3
- H4C1 3
- H4C3 3
External Ids for H4C2 Gene
- HGNC: 4789
- NCBI Entrez Gene: 8366
- Ensembl: ENSG00000278705
- OMIM®: 602829
- UniProtKB/Swiss-Prot: P62805
Previous HGNC Symbols for H4C2 Gene
- H4FI
- HIST1H4B
Summaries for H4C2 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 H4 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 H4C2 Gene
H4C2 (H4 Clustered Histone 2) is a Protein Coding gene. Diseases associated with H4C2 include Hyperinsulinemic Hypoglycemia, Familial, 1 and Hyperinsulinemic Hypoglycemia, Familial, 2. Among its related pathways are DNA Double-Strand Break Repair and Cellular Senescence (REACTOME). An important paralog of this gene is H4C3.
UniProtKB/Swiss-Prot Summary for H4C2 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.
Additional gene information for H4C2 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for H4C2 Gene
Genomics for H4C2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for H4C2 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH06J026015 | Promoter/Enhancer | 2.7 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 250.7 | +1.8 | 1843 | 20.5 | BCLAF1 SP1 ZNF654 ZNF207 NCOR1 MYC IKZF1 ZNF600 SSRP1 JUND | H4C2 HSALNG0048725 ABT1 BTN2A2 BTN2A1 HMGN4 BTN2A3P ZNF322 ENSG00000272462 BTN3A2 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around H4C2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for H4C2
Genomic Locations for H4C2 Gene
Latest Assembly
- chr6:26,026,815-26,027,283
- (GRCh38/hg38)
- Size:
- 469 bases
- Orientation:
- Minus strand
Previous Assembly
- chr6:26,027,124-26,027,511
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 388 bases
- Orientation:
- Minus strand
Genomic View for H4C2 Gene
Genes around H4C2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.2 by HGNC
- 6p22.2 by Entrez Gene
- 6p22.2 by Ensembl
H4C2 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 H4C2 Gene
Proteins for H4C2 Gene
-
Protein details for H4C2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P62805-H4_HUMAN
- Recommended name:
- Histone H4
- Protein Accession:
- P62805
- A2VCL0
- P02304
- P02305
- Q6DRA9
- Q6FGB8
- Q6NWP7
Protein attributes for H4C2 Gene
- Size:
- 103 amino acids
- Molecular mass:
- 11367 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.
- SequenceCaution:
-
- Sequence=AAI28106.1; Type=Frameshift; Evidence={ECO:0000305};
Post-translational modifications for H4C2 Gene
- Acetylation at Lys-6 (H4K5ac), Lys-9 (H4K8ac), Lys-13 (H4K12ac) and Lys-17 (H4K16ac) occurs in coding regions of the genome but not in heterochromatin.
- Citrullination at Arg-4 (H4R3ci) by PADI4 impairs methylation.
- Monomethylation and asymmetric dimethylation at Arg-4 (H4R3me1 and H4R3me2a, respectively) by PRMT1 favors acetylation at Lys-9 (H4K8ac) and Lys-13 (H4K12ac). Demethylation is performed by JMJD6. Symmetric dimethylation on Arg-4 (H4R3me2s) by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
- Monomethylated, dimethylated or trimethylated at Lys-21 (H4K20me1, H4K20me2, H4K20me3) (PubMed:12086618, PubMed:15964846, PubMed:17967882). Monomethylation is performed by KMT5A/SET8 (PubMed:15964846). Dimethylation and trimethylation is performed by KMT5B and KMT5C and induces gene silencing (By similarity). Monomethylated at Lys-13 (H4K12me1) by N6AMT1; H4K12me1 modification is present at the promoters of numerous genes encoding cell cycle regulators (PubMed:31061526).
- Phosphorylated by PAK2 at Ser-48 (H4S47ph). This phosphorylation increases the association of H3.3-H4 with the histone chaperone HIRA, thus promoting nucleosome assembly of H3.3-H4 and inhibiting nucleosome assembly of H3.1-H4.
- Ubiquitinated by the CUL4-DDB-RBX1 complex in response to ultraviolet irradiation. This may weaken the interaction between histones and DNA and facilitate DNA accessibility to repair proteins. Monoubiquitinated at Lys-92 of histone H4 (H4K91ub1) in response to DNA damage. The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 Lys-21 methylation (H4K20me).
- Ufmylated; monofmylated by UFL1 at Lys-32 (H4K31Ufm1) in response to DNA damage.
- Sumoylated, which is associated with transcriptional repression.
- 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.
- Butyrylation of histones marks active promoters and competes with histone acetylation.
- Glutarylation at Lys-92 (H4K91glu) destabilizes nucleosomes by promoting dissociation of the H2A-H2B dimers from nucleosomes.
-
Ubiquitination at Lys32, Lys60, Lys78, and Lys80
- NX_P62805 (NX_P62805-1)
- Modification sites at PhosphoSitePlus
Other Protein References for H4C2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for H4C2
- Invitrogen Antibodies for H4C2 (AFLGC-HIST1H4B, AFLGC-H4C2)
- antibodies-online: Show 164 available HIST1H4B Antibodies ranked by validation data
- Compare Top HIST1H4B Antibodies
-
Quality Products:
Protein products for research
-
OriGene Purified Proteins for H4C2
- Search Origene for MassSpec and Protein Over-expression Lysates for H4C2
- Origene Custom Protein Services for H4C2
- Novus Biologicals proteins for H4C2
- antibodies-online: Show 4 available HIST1H4B Proteins ranked by validation data
- Compare Top HIST1H4B Proteins
-
Quality Products:
Assay products for research
- antibodies-online: Show 4 available HIST1H4B Elisa Kits ranked by validation data
- Compare Top HIST1H4B Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for H4C2 Gene
Domains & Families for H4C2 Gene
Gene Families for H4C2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for H4C2 Gene
Graphical View of Domain Structure for InterPro Entry
P62805- Family:
-
- Belongs to the histone H4 family.
No data available for Suggested Antigen Peptide Sequences for H4C2 Gene
Function for H4C2 Gene
Molecular function for H4C2 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 H4C2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IBA,TAS | 3035717 |
| GO:0003723 | RNA binding | HDA | 22658674 |
| GO:0005515 | protein binding | IPI | 9540062 |
| GO:0019904 | protein domain specific binding | IPI | 22368283 |
| GO:0046982 | protein heterodimerization activity | IEA | -- |
Phenotypes for H4C2 Gene
- MGI mutant phenotypes for H4C2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for H4C2:
-
- Strongly decreased CFP-tsO45G cell surface transport
- Increased vaccinia virus (VACV) infection
- Increased G1 DNA content
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased shRNA abundance
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Increased gamma-H2AX phosphorylation
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for H4C2 - Starting at $85 >
- * H4C2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for H4C2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for H4C2
miRNA for H4C2 Gene
- miRTarBase miRNAs that target H4C2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for H4C2
- Browse OriGene Inhibitory RNA Products For H4C2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for H4C2
Clone products for research
- Applied Biological Materials (abm): Clones for H4C2 - Starting at $45 >
- * H4C2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for H4C2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for H4C2
Cell Lines for research
-
Horizon Cell Lines for H4C2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for H4C2 Gene
Localization for H4C2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for H4C2 Gene
- Nucleus. Chromosome.
| 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 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000228 | nuclear chromosome | IDA | 14718166 |
| GO:0000781 | chromosome, telomeric region | HDA | 19135898 |
| GO:0000786 | nucleosome | TAS | 3035717 |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005634 | nucleus | IEA,IDA | 14585971 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for H4C2 Gene
Pathways & Interactions for H4C2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
.88
|
.35
|
| 2 | DNA Double-Strand Break Repair |
.53
|
|
| 3 | Cellular Senescence (REACTOME) | ||
| 4 | Chromosome Maintenance | ||
| 5 | Cell Cycle, Mitotic |
.83
|
.60
|
Pathways by source for H4C2 Gene
2 BioSystems pathways for H4C2 Gene
66 Reactome pathways for H4C2 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
4 KEGG pathways for H4C2 Gene
4 GeneGo (Thomson Reuters) pathways for H4C2 Gene
- Development Notch Signaling Pathway
- Development NOTCH1-mediated pathway for NF-KB activity modulation
- Signal transduction Activin A signaling regulation
- Transcription Sin3 and NuRD in transcription regulation
2 Qiagen pathways for H4C2 Gene
- Crosstalk Between CARM1 and ESRs
- Nuclear Receptor Activation by Vitamin-A
1 GeneTex pathway for H4C2 Gene
Interacting Proteins for H4C2 Gene
Selected Interacting proteins:
P62805-H4_HUMAN
ENSP00000366974
for H4C2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for H4C2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000183 | chromatin silencing at rDNA | TAS | -- |
| GO:0006303 | double-strand break repair via nonhomologous end joining | TAS | -- |
| GO:0006334 | nucleosome assembly | IBA,IDA | 20498094 |
| GO:0006335 | DNA replication-dependent nucleosome assembly | IDA | 14718166 |
| GO:0006336 | DNA replication-independent nucleosome assembly | IDA | 14718166 |
No data available for SIGNOR curated interactions for H4C2 Gene
Transcripts for H4C2 Gene
mRNA/cDNA for H4C2 Gene
- 1 REFSEQ mRNAs :
- 1 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000377745 438 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for H4C2 - Starting at $85 >
- * H4C2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for H4C2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for H4C2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for H4C2
- Browse OriGene Inhibitory RNA Products For H4C2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for H4C2
Clone products for research
- Applied Biological Materials (abm): Clones for H4C2 - Starting at $45 >
- * H4C2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for H4C2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for H4C2
Relevant External Links for H4C2 Gene
- GeneLoc Exon Structure for
- H4C2
Expression for H4C2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for H4C2
SOURCE GeneReport for Unigene cluster for H4C2 Gene:
Hs.143080Evidence on tissue expression from TISSUES for H4C2 Gene
- Nervous system(4.6)
- Blood(4.6)
- Liver(4.5)
- Eye(4.4)
- Intestine(2.8)
- Heart(2.6)
- Lung(2.6)
- Kidney(2.6)
- Skin(2.3)
- Pancreas(2.3)
- Muscle(2.2)
- Stomach(2.1)
No Expression Related Data Available
Primer products for research
-
OriGene qPCR primer pairs for H4C2
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 H4C2 Gene
Orthologs for H4C2 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | LOC462507 29 |
|
||
| Rat (Rattus norvegicus) |
Mammalia | Hist2h4 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Hist4h4 29 |
|
||
| H4f16 16 |
|
||||
| Cow (Bos Taurus) |
Mammalia | LOC529647 29 |
|
||
| Chicken (Gallus gallus) |
Aves | HIST1H46L3 29 |
|
||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100496758 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100332668 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | His4:CG33871 29 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HHF1 32 |
|
|
|
| HHF2 32 |
|
|
- Species where no ortholog for H4C2 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)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- Dog (Canis familiaris)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- 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)
- Oppossum (Monodelphis domestica)
- 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 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)
- Worm (Caenorhabditis elegans)
Evolution for H4C2 Gene
- ENSEMBL:
- Gene Tree for H4C2 (if available)
- TreeFam:
- Gene Tree for H4C2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for H4C2: view image
- Alliance of Genome Resources:
- Additional Orthologs for H4C2
Paralogs for H4C2 Gene
Variants for H4C2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for H4C2 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs115249469 | Benign: not provided | 26,027,058(-) |
G/A NM_003544.3(H4C2):c.195C>T (p.Asn65=) |
SYNONYMOUS | |
| rs116171042 | Benign: not provided | 26,027,247(-) |
A/T NM_003544.3(H4C2):c.6T>A (p.Ser2=) |
SYNONYMOUS | |
| rs116366733 | Benign: not provided | 26,026,986(-) |
G/A NM_003544.3(H4C2):c.267C>T (p.Tyr89=) |
SYNONYMOUS | |
| rs150550889 | Benign: not provided | 26,026,974(-) |
A/C NM_003544.3(H4C2):c.279T>G (p.Arg93=) |
SYNONYMOUS | |
| rs182575157 | Benign: not provided | 26,026,947(-) |
G/A NM_003544.3(H4C2):c.306C>T (p.Gly102=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5926n100 | CNV | gain | 25217958 |
| esv3608392 | CNV | gain | 21293372 |
| nsv1023453 | CNV | gain | 25217958 |
| nsv1026692 | CNV | loss | 25217958 |
| nsv428137 | CNV | loss | 18775914 |
| nsv509122 | CNV | insertion | 20534489 |
Residual Variation Intolerance Score:
44.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.52;
11.32% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for H4C2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for H4C2 Gene
Disorders for H4C2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hyperinsulinemic hypoglycemia, familial, 1 |
|
|
| hyperinsulinemic hypoglycemia, familial, 2 |
|
|
| hyperoxaluria, primary, type i |
|
|
| meier-gorlin syndrome 1 |
|
|
| carbohydrate metabolic disorder |
|
|
Search H4C2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
H4_HUMAN- Note=Chromosomal aberrations involving HISTONE H4 is a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;6)(q27;p21), with BCL6. {ECO:0000269 PubMed:12414651}.
Additional Disease Information for H4C2
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for H4C2 Gene
Publications for H4C2 Gene
- The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff WF … Maltais LJ (Genomics 2002) 2 3 4
- Human histone gene organization: nonregular arrangement within a large cluster. (PMID: 9119399) Albig W … Doenecke D (Genomics 1997) 2 3 4
- The human histone gene cluster at the D6S105 locus. (PMID: 9439656) Albig W … Doenecke D (Human genetics 1997) 3 4
- Isolation and characterization of two human H1 histone genes within clusters of core histone genes. (PMID: 1916825) Albig W … Doenecke D (Genomics 1991) 3 4
- Protein-DNA interactions in vivo upstream of a cell cycle-regulated human H4 histone gene. (PMID: 3035717) Pauli U … Nick H (Science (New York, N.Y.) 1987) 3 4
ExternalLinks
Products for H4C2 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for H4C2
- Search Origene for MassSpec and Protein Over-expression Lysates for H4C2
- Origene Custom Protein Services for H4C2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for H4C2
- Browse OriGene Inhibitory RNA Products For H4C2
- OriGene qPCR primer pairs for H4C2
- OriGene CRISPR knockouts for H4C2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For H4C2
- Sino Biological Human cDNA Clone for H4C2
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- Novus Biologicals Antibodies for H4C2
- Novus Biologicals proteins for H4C2
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- Invitrogen Antibodies for H4C2 (AFLGC-HIST1H4B, AFLGC-H4C2)
- VectorBuilder Custom and pre-made DNA vectors for H4C2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for H4C2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for H4C2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for H4C2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for H4C2
- antibodies-online: Show 164 available HIST1H4B Antibodies ranked by validation data
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- antibodies-online: Show 4 available HIST1H4B Elisa Kits ranked by validation data
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- antibodies-online: Show 4 available HIST1H4B Proteins ranked by validation data
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- Horizon Cell Lines for H4C2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for H4C2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for H4C2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for H4C2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for H4C2
Sources for H4C2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources