Aliases for HIST2H2BF Gene
Aliases for HIST2H2BF Gene
External Ids for HIST2H2BF Gene
- HGNC: 24700
- Entrez Gene: 440689
- Ensembl: ENSG00000203814
- UniProtKB: Q5QNW6
Previous GeneCards Identifiers for HIST2H2BF Gene
- GC01M146591
- GC01M148048
- GC01M149765
- GC01M149758
- GC01M149760
- GC01M149761
- GC01M149762
- GC01M149763
- GC01M149764
- GC01M149767
- GC01M149769
- GC01M149770
- GC01M149773
- GC01M149776
- GC01M149779
- GC01M149782
Summaries for HIST2H2BF Gene
-
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family and is found in a histone cluster on chromosome 1. [provided by RefSeq, Aug 2015]
GeneCards Summary for HIST2H2BF Gene
HIST2H2BF (Histone Cluster 2 H2B Family Member F) is a Protein Coding gene. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Deubiquitination. GO annotations related to this gene include sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is HIST1H2BH.
UniProtKB/Swiss-Prot for HIST2H2BF 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 HIST2H2BF Gene
Genomics for HIST2H2BF Gene
Regulatory Elements for HIST2H2BF Gene
Enhancers for HIST2H2BF 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 |
|---|---|---|---|---|---|---|---|---|
| GH01G149810 | 1 | ENCODE | 0.7 | +0.7 | 741 | 3.1 | FOXA2 ATF1 ARNT SIN3A ZNF2 ELK1 SP3 NFYC REST ZNF623 | SV2A PRPF3 ENSG00000261716 HIST2H2BD HIST2H2BC SF3B4 HIST2H2BF ENSG00000233030 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HIST2H2BF on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for HIST2H2BF Gene
- Chromosome:
- 1
- Start:
- 149,755,104 bp from pter
- End:
- 149,813,123 bp from pter
- Size:
- 58,020 bases
- Orientation:
- Minus strand
Genomic View for HIST2H2BF Gene
Genes around HIST2H2BF on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q21.2 by Ensembl
- 1q21.2 by Entrez Gene
- 1q21.2 by HGNC
HIST2H2BF 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 HIST2H2BF Gene
Proteins for HIST2H2BF Gene
-
Protein details for HIST2H2BF Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5QNW6-H2B2F_HUMAN
- Recommended name:
- Histone H2B type 2-F
- Protein Accession:
- Q5QNW6
- A8K0U9
- B4DLA9
Protein attributes for HIST2H2BF Gene
- Size:
- 126 amino acids
- Molecular mass:
- 13920 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 HIST2H2BF Gene
Post-translational modifications for HIST2H2BF 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 (By similarity).
- 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 posLast=121121
- Glycosylation at isoforms=2113
- Modification sites at PhosphoSitePlus
Other Protein References for HIST2H2BF Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HIST2H2BF
- Novus Biologicals Antibodies for HIST2H2BF
- Invitrogen Antibodies for HIST2H2BF
- antibodies-online Antibodies for HIST2H2BF: See all 20
- Search GeneTex for Antibodies for HIST2H2BF
Protein Products
-
OriGene Purified Proteins for HIST2H2BF
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- Search GeneTex for Proteins for HIST2H2BF
Assay Products
No data available for DME Specific Peptides for HIST2H2BF Gene
Domains & Families for HIST2H2BF Gene
Gene Families for HIST2H2BF Gene
- HGNC:
Protein Domains for HIST2H2BF Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HIST2H2BF Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q5QNW6- Family:
-
- Belongs to the histone H2B family.
Function for HIST2H2BF Gene
Molecular function for HIST2H2BF 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 HIST2H2BF Gene
- GenomeRNAi human phenotypes for HIST2H2BF:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HIST2H2BF gene
-
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CRISPR Products
-
OriGene CRISPR knockouts for HIST2H2BF
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST2H2BF
- GenScript: Design CRISPR guide RNA sequences for HIST2H2BF
miRNA for HIST2H2BF Gene
- miRTarBase miRNAs that target HIST2H2BF
-
- hsa-mir-98-5p (MIRT027483)
- hsa-mir-26b-5p (MIRT029014)
- hsa-mir-1180-3p (MIRT035952)
- hsa-mir-760 (MIRT036796)
- hsa-mir-423-5p (MIRT038115)
- hsa-mir-296-3p (MIRT038403)
- hsa-mir-99b-3p (MIRT038517)
- hsa-mir-615-3p (MIRT039890)
- hsa-mir-18a-3p (MIRT040749)
- hsa-mir-125b-5p (MIRT045913)
- hsa-mir-25-3p (MIRT050231)
- hsa-let-7e-5p (MIRT051429)
- hsa-let-7a-5p (MIRT052377)
miRNA Products
- Search ViGene Biosciences for HIST2H2BF
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HIST2H2BF
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-
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Cell Line Products
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Horizon Cell Lines for HIST2H2BF
-
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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 HIST2H2BF Gene
Localization for HIST2H2BF Gene
Subcellular locations from UniProtKB/Swiss-Prot for HIST2H2BF Gene
- Nucleus. Chromosome.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 4 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000786 | nucleosome | IEA | -- |
| GO:0005634 | nucleus | IDA,IEA | 21630459 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005694 | chromosome | IEA | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for HIST2H2BF Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
.34
|
|
| 2 | Chromatin organization | ||
| 3 | Deubiquitination |
.74
|
|
| 4 | Metabolism of proteins | ||
| 5 | Viral carcinogenesis | ||
Pathways by source for HIST2H2BF Gene
8 Reactome pathways for HIST2H2BF Gene
3 KEGG pathways for HIST2H2BF Gene
Interacting Proteins for HIST2H2BF Gene
Selected Interacting proteins:
Q5QNW6-H2B2F_HUMAN
ENSP00000445831
for HIST2H2BF Gene via
MINT
STRING
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006334 | nucleosome assembly | IBA | -- |
No data available for SIGNOR curated interactions for HIST2H2BF Gene
Transcripts for HIST2H2BF Gene
mRNA/cDNA for HIST2H2BF Gene
- (2) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (7) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HIST2H2BF Gene
CRISPR Products
-
OriGene CRISPR knockouts for HIST2H2BF
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIST2H2BF
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miRNA Products
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Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HIST2H2BF
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-
ViGene Biosciences ready-to-package AAV shRNAs for HIST2H2BF gene
Flow Cytometry Products
Expression for HIST2H2BF Gene
mRNA differential expression in normal tissues according to GTEx for HIST2H2BF Gene
This gene is overexpressed in Whole Blood (x13.3) and Cervix - Ectocervix (x4.2).
This gene is overexpressed in Saliva (57.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HIST2H2BF Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HIST2H2BF Gene:
HIST2H2BFSOURCE GeneReport for Unigene cluster for HIST2H2BF Gene:
Hs.632451Evidence on tissue expression from TISSUES for HIST2H2BF Gene
- Nervous system(4.3)
- Pancreas(4.2)
Primer Products
-
OriGene qPCR primer pairs for HIST2H2BF
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 HIST2H2BF Gene
Orthologs for HIST2H2BF Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LOC457260 34 |
|
||
| HIST2H2BF 35 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | H2B 35 |
|
ManyToMany | |
| LOC505183 34 |
|
||||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | HIST2H2BF 35 |
|
OneToOne | |
| LOC608682 34 |
|
||||
| mouse (Mus musculus) |
Mammalia | Hist2h2bb 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC100912338 34 |
|
- Species where no ortholog for HIST2H2BF 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)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- 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 HIST2H2BF Gene
(23) SIMAP similar genes for HIST2H2BF Gene using alignment to 2 proteins:
Pseudogenes.org Pseudogenes for HIST2H2BF Gene
Variants for HIST2H2BF Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs74315310 | Pathogenic | 149,784,224(+) | CAGGG(C/T)GAAGT | intron-variant, reference, stop-gained | |
| rs1050191 | -- | 149,784,109(+) | AGCTC(C/T)ACACA | intron-variant, reference, synonymous-codon | |
| rs1050204 | -- | 149,791,362(+) | AGTGG(A/G)ATTTA | intron-variant, upstream-variant-2KB, reference, missense | |
| rs1050212 | -- | 149,791,635(+) | GGTAT(A/G)TAACT | intron-variant, upstream-variant-2KB, utr-variant-3-prime | |
| rs10537539 | -- | 149,810,389(+) | AGTGG(-/A)AAAAA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv73n67 | CNV | gain | 20364138 |
| esv1007634 | OTHER | inversion | 20482838 |
| esv3587495 | CNV | loss | 21293372 |
| nsv469694 | CNV | loss | 16826518 |
| nsv7182 | OTHER | inversion | 18451855 |
| nsv824564 | CNV | gain | 20364138 |
| nsv831503 | CNV | gain | 17160897 |
| nsv831525 | CNV | gain | 17160897 |
| nsv946376 | CNV | duplication | 23825009 |
| nsv946377 | CNV | duplication | 23825009 |
| nsv952796 | CNV | duplication | 24416366 |
| nsv952802 | CNV | duplication | 24416366 |
Residual Variation Intolerance Score:
68.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.01;
20.67% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HIST2H2BF Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HIST2H2BF
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST2H2BF Gene
Disorders for HIST2H2BF Gene
Relevant External Links for HIST2H2BF
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- HIST2H2BF
No disorders were found for HIST2H2BF Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HIST2H2BF Gene
Publications for HIST2H2BF Gene
- Characterization of histones H2A and H2B variants and their post- translational modifications by mass spectrometry. (PMID: 16319397) Bonenfant D. … van Oostrum J. (Mol. Cell. Proteomics 2006) 3 4 64
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
- Histone H2B monoubiquitination functions cooperatively with FACT to regulate elongation by RNA polymerase II. (PMID: 16713563) Pavri R. … Reinberg D. (Cell 2006) 3 4 64
- Inhibition of core histones acetylation by carcinogenic nickel(II). (PMID: 16283522) Golebiowski F. … Kasprzak K.S. (Mol. Cell. Biochem. 2005) 3 4 64
- Monoubiquitination of human histone H2B: the factors involved and their roles in HOX gene regulation. (PMID: 16307923) Zhu B. … Reinberg D. (Mol. Cell 2005) 3 4 64
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- Yeast expression
Sources for HIST2H2BF Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
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- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
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