H2AFB2

Histone H2A-Bbd type 2/3 also known as H2A Barr body-deficient is a histone protein that in humans is encoded by the H2AFB2 gene (H2A histone family, member B1).[5]

H2AB2
Identifiers
Aliases	H2AB2, H2A.Bbd, H2A histone family member B2, H2A.B variant histone 2, H2AFB2, H2AB3
External IDs	MGI: 3644875 HomoloGene: 129517 GeneCards: H2AB2
Gene location (Human) Chr. X chromosome (human)[1] Band Xq28 Start 155,380,787 bp[1] End 155,381,134 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X E2 Start 120,312,748 bp[2] End 120,313,095 bp[2]
Gene ontology Molecular function • protein heterodimerization activity • DNA binding Cellular component • nuclear chromatin • nuclear nucleosome • nucleosome • transcriptionally active chromatin • cell nucleus • chromosome Biological process • nucleosome assembly • mRNA processing • chromatin silencing • chromatin organization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	474381	624957
Ensembl	ENSG00000277858	ENSMUSG00000083616
UniProt	P0C5Z0	S4R1G7
RefSeq (mRNA)	NM_001017991	NM_001281531
RefSeq (protein)	NP_001017991	NP_001268460
Location (UCSC)	Chr X: 155.38 – 155.38 Mb	Chr X: 120.31 – 120.31 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone 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 member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy.[5]

References

1. GRCh38: Ensembl release 89: ENSG00000277858 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000083616 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: H2A histone family".

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Chadwick BP, Willard HF (2001). "A Novel Chromatin Protein, Distantly Related to Histone H2a, Is Largely Excluded from the Inactive X Chromosome". J. Cell Biol. 152 (2): 375–84. doi:10.1083/jcb.152.2.375. PMC 2199617. PMID 11266453.
• Bao Y, Konesky K, Park YJ, et al. (2004). "Nucleosomes containing the histone variant H2A.Bbd organize only 118 base pairs of DNA". EMBO J. 23 (16): 3314–24. doi:10.1038/sj.emboj.7600316. PMC 514500. PMID 15257289.
• Naylor JA, Buck D, Green P, et al. (1995). "Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions". Hum. Mol. Genet. 4 (7): 1217–24. doi:10.1093/hmg/4.7.1217. PMID 8528212.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.