Zinc finger protein basonuclin-2

Zinc finger protein basonuclin-2 is a protein that in humans is encoded by the BNC2 gene.^[5][6] BNC2 has recently been shown to influence skin pigmentation levels in Europeans.^[7] Genomic region spanning the BNC2 gene has 60% Neanderthal DNA sequence.^[8]

BNC2
Identifiers
Aliases	BNC2, BSN2, basonuclin 2, LUTO
External IDs	OMIM: 608669; MGI: 2443805; HomoloGene: 18243; GeneCards: BNC2; OMA:BNC2 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9p22.3-p22.2 Start 16,409,503 bp[1] End 16,870,843 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 C3- C4 Start 84,193,332 bp[2] End 84,593,512 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in germinal epithelium sural nerve parietal pleura epithelium of colon hair follicle buccal mucosa cell left ovary right ovary myometrium testicle Top expressed in zygote oocyte secondary oocyte primary oocyte Gonadal ridge vas deferens sciatic nerve lumbar spinal ganglion hand trigeminal ganglion More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding DNA binding nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm plasma membrane cytosol Biological process tongue development endochondral bone growth regulation of transcription, DNA-templated mesenchyme development roof of mouth development transcription, DNA-templated regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54796 242509 Ensembl ENSG00000173068 ENSMUSG00000028487 UniProt Q6ZN30 Q06HC2 Q8BMQ3 RefSeq (mRNA) NM_017637 NM_001317939 NM_001317940 NM_172870 NM_001369081 NM_001369082 NM_001369083 NM_001369084 RefSeq (protein) NP_001304868 NP_001304869 NP_060107 NP_766458 NP_001356010 NP_001356011 NP_001356012 NP_001356013 Location (UCSC) Chr 9: 16.41 – 16.87 Mb Chr 4: 84.19 – 84.59 Mb PubMed search [3] [4]
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See also

• Chromosome 9 (human)
• Zinc finger protein

References

1. GRCh38: Ensembl release 89: ENSG00000173068 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028487 – 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. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, et al. (Jan 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nature Genetics. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
6. "Entrez Gene: BNC2 basonuclin 2".
7. Jacobs LC, Wollstein A, Lao O, Hofman A, Klaver CC, Uitterlinden AG, Nijsten T, Kayser M, Liu F (Feb 2013). "Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans". Human Genetics. 132 (2): 147–58. doi:10.1007/s00439-012-1232-9. PMID 23052946. S2CID 6057298.
8. Vattathil S, Akey JM (Oct 2015). "Small Amounts of Archaic Admixture Provide Big Insights into Human History". Cell. 163 (2): 281–4. doi:10.1016/j.cell.2015.09.042. PMID 26451479.

Further reading

• Vanhoutteghem A, Djian P (Jan 2007). "The human basonuclin 2 gene has the potential to generate nearly 90,000 mRNA isoforms encoding over 2000 different proteins". Genomics. 89 (1): 44–58. doi:10.1016/j.ygeno.2006.07.006. PMID 16942855.
• Vanhoutteghem A, Djian P (Aug 2006). "Basonuclins 1 and 2, whose genes share a common origin, are proteins with widely different properties and functions". Proceedings of the National Academy of Sciences of the United States of America. 103 (33): 12423–8. Bibcode:2006PNAS..10312423V. doi:10.1073/pnas.0605086103. PMC 1567895. PMID 16891417.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (Jan 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Benevolenskaya EV, Murray HL, Branton P, Young RA, Kaelin WG (Jun 2005). "Binding of pRB to the PHD protein RBP2 promotes cellular differentiation". Molecular Cell. 18 (6): 623–35. doi:10.1016/j.molcel.2005.05.012. PMID 15949438.
• Romano RA, Li H, Tummala R, Maul R, Sinha S (May 2004). "Identification of Basonuclin2, a DNA-binding zinc-finger protein expressed in germ tissues and skin keratinocytes". Genomics. 83 (5): 821–33. doi:10.1016/j.ygeno.2003.11.009. PMID 15081112.
• Vanhoutteghem A, Djian P (Mar 2004). "Basonuclin 2: an extremely conserved homolog of the zinc finger protein basonuclin". Proceedings of the National Academy of Sciences of the United States of America. 101 (10): 3468–73. Bibcode:2004PNAS..101.3468V. doi:10.1073/pnas.0400268101. PMC 373485. PMID 14988505.