C2orf3

GC-rich sequence DNA-binding factor 2
Identifiers
Symbols	GCFC2 ; C2orf3; DNABF; GCF; TCF9
External IDs	OMIM: 189901 MGI: 2141656 HomoloGene: 2411 GeneCards: GCFC2 Gene
Gene ontology Molecular function • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding Cellular component • nucleus • nucleoplasm • nucleolus • U2-type post-mRNA release spliceosomal complex Biological process • negative regulation of transcription from RNA polymerase II promoter • spliceosomal complex assembly • transcription, DNA-templated • regulation of transcription, DNA-templated • negative regulation of transcription, DNA-templated Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6936	330361
Ensembl	ENSG00000005436	ENSMUSG00000035125
UniProt	P16383	Q8BKT3
RefSeq (mRNA)	NM_001201334	NM_177884
RefSeq (protein)	NP_001188263	NP_808552
Location (UCSC)	Chr 2: 75.65 – 75.71 Mb	Chr 6: 81.92 – 81.96 Mb
PubMed search

GC-rich sequence DNA-binding factor is a protein that in humans is encoded by the C2orf3 gene.^[1][2][3][4]

The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene.^[4]

References

1. Johnson AC, Kageyama R, Popescu NC, Pastan I (Feb 1992). "Expression and chromosomal localization of the gene for the human transcriptional repressor GCF". J Biol Chem 267 (3): 1689–94. PMID 1370479.
2. Kageyama R, Pastan I (Jan 1990). "Molecular cloning and characterization of a human DNA binding factor that represses transcription". Cell 59 (5): 815–25. doi:10.1016/0092-8674(89)90605-3. PMID 2556218.
3. Anthoni H, Zucchelli M, Matsson H, Muller-Myhsok B, Fransson I, Schumacher J, Massinen S, Onkamo P, Warnke A, Griesemann H, Hoffmann P, Nopola-Hemmi J, Lyytinen H, Schulte-Korne G, Kere J, Nothen MM, Peyrard-Janvid M (Apr 2007). "A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia". Hum Mol Genet 16 (6): 667–77. doi:10.1093/hmg/ddm009. PMID 17309879.
4. "Entrez Gene: C2orf3 chromosome 2 open reading frame 3".

Further reading

• Mao P (1999). "[Revisions of the cDNA and primary protein structure of human transcription factor GCF]". Hokkaido Igaku Zasshi 74 (4): 315–30. PMID 10480038.
• Takimoto M, Mao P, Wei G; et al. (1999). "Molecular analysis of the GCF gene identifies revisions to the cDNA and amino acid sequences(1)". Biochim. Biophys. Acta 1447 (1): 125–31. doi:10.1016/S0167-4781(99)00127-X. PMID 10500253.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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.
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Beausoleil SA, Jedrychowski M, Schwartz D; et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Hillier LW, Graves TA, Fulton RS; et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.
• Olsen JV, Blagoev B, Gnad F; et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.