GCFC2

GC-rich sequence DNA-binding factor is a protein that in humans is encoded by the GCFC2 gene.^[5][6][7][8]

GCFC2
Identifiers
Aliases	GCFC2, C2orf3, DNABF, GCF, TCF9, GC-rich sequence DNA-binding factor 2
External IDs	OMIM: 189901; MGI: 2141656; HomoloGene: 2411; GeneCards: GCFC2; OMA:GCFC2 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p12 Start 75,652,000 bp[1] End 75,710,985 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 C3 Start 81,923,669 bp[2] End 81,959,915 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone gastrocnemius muscle right lobe of liver Achilles tendon muscle of thigh canal of the cervix right uterine tube body of pancreas gonad ectocervix Top expressed in hand superior cervical ganglion tail of embryo otolith organ utricle foot epiblast genital tubercle Rostral migratory stream ventricular zone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific protein binding Cellular component nucleolus nucleus U2-type post-mRNA release spliceosomal complex nucleoplasm cytosol Biological process mRNA processing spliceosomal complex assembly negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II transcription, DNA-templated RNA splicing mRNA splicing, via spliceosome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6936 330361 Ensembl ENSG00000005436 ENSMUSG00000035125 UniProt P16383 Q8BKT3 RefSeq (mRNA) NM_001201334 NM_001201335 NM_003203 NM_177884 RefSeq (protein) NP_001188263 NP_001188264 NP_003194 NP_808552 Location (UCSC) Chr 2: 75.65 – 75.71 Mb Chr 6: 81.92 – 81.96 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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.^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000005436 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000035125 – 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. 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. doi:10.1016/S0021-9258(18)46000-0. PMID 1370479.
6. 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. S2CID 21177070.
7. 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.
8. "Entrez Gene: C2orf3 chromosome 2 open reading frame 3".

External links

• Human GCFC2 genome location and GCFC2 gene details page in the UCSC Genome Browser.

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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2004PNAS..10112130B. 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. Bibcode:2005Natur.434..724H. 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. S2CID 7827573.