GCFC2

Protein-coding gene in the species Homo sapiens
GCFC2
Identifiers
AliasesGCFC2, C2orf3, DNABF, GCF, TCF9, GC-rich sequence DNA-binding factor 2
External IDsOMIM: 189901; MGI: 2141656; HomoloGene: 2411; GeneCards: GCFC2; OMA:GCFC2 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for GCFC2
Genomic location for GCFC2
Band2p12Start75,652,000 bp[1]
End75,710,985 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for GCFC2
Genomic location for GCFC2
Band6|6 C3Start81,923,669 bp[2]
End81,959,915 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 6: 81.92 – 81.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000005436 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. 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.


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