Human Gene GCFC2 (ENST00000321027.8_15) from GENCODE V47lift37
  Description: GC-rich sequence DNA-binding factor 2, transcript variant 1 (from RefSeq NM_003203.5)
Gencode Transcript: ENST00000321027.8_15
Gencode Gene: ENSG00000005436.14_18
Transcript (Including UTRs)
   Position: hg19 chr2:75,889,831-75,938,041 Size: 48,211 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr2:75,891,792-75,937,981 Size: 46,190 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:75,889,831-75,938,041)mRNA (may differ from genome)Protein (781 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GCFC2_HUMAN
DESCRIPTION: RecName: Full=GC-rich sequence DNA-binding factor 2; AltName: Full=GC-rich sequence DNA-binding factor; AltName: Full=Transcription factor 9; Short=TCF-9;
FUNCTION: Factor that represses transcription. It binds to the GC- rich sequences (5'-GCGGGGC-3') present in the epidermal growth factor receptor, beta-actin, and calcium-dependent protease promoters.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Widely expressed in tissues and cell lines.
SIMILARITY: Belongs to the GCF family.
SEQUENCE CAUTION: Sequence=AAA35598.1; Type=Frameshift; Positions=147; Sequence=AAA35598.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. The N-terminus matches the 2q37.3 region;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GCFC2
Diseases sorted by gene-association score: reading disorder (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.17 RPKM in Cervix - Endocervix
Total median expression: 189.36 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -25.4060-0.423 Picture PostScript Text
3' UTR -436.501961-0.223 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012890 - GCFC
IPR022783 - GCFC_dom

Pfam Domains:
PF07842 - GC-rich sequence DNA-binding factor-like protein

ModBase Predicted Comparative 3D Structure on P16383
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000245 spliceosomal complex assembly
GO:0000398 mRNA splicing, via spliceosome
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0045892 negative regulation of transcription, DNA-templated

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0071008 U2-type post-mRNA release spliceosomal complex


-  Descriptions from all associated GenBank mRNAs
  EF158469 - Homo sapiens C2ORF3 variant 3 (C2orf3) mRNA, complete cds, alternatively spliced.
LF384131 - JP 2014500723-A/191634: Polycomb-Associated Non-Coding RNAs.
BC064559 - Homo sapiens chromosome 2 open reading frame 3, mRNA (cDNA clone MGC:75039 IMAGE:5548897), complete cds.
EF158468 - Homo sapiens C2ORF3 variant 2 (C2orf3) mRNA, complete cds, alternatively spliced.
MA619708 - JP 2018138019-A/191634: Polycomb-Associated Non-Coding RNAs.
AB026911 - Homo sapiens mRNA for GCF2 fusion protein, complete cds.
JD433967 - Sequence 414991 from Patent EP1572962.
AK097564 - Homo sapiens cDNA FLJ40245 fis, clone TESTI2023968, highly similar to GC-RICH SEQUENCE DNA-BINDING FACTOR.
LF363129 - JP 2014500723-A/170632: Polycomb-Associated Non-Coding RNAs.
LF363124 - JP 2014500723-A/170627: Polycomb-Associated Non-Coding RNAs.
LF363122 - JP 2014500723-A/170625: Polycomb-Associated Non-Coding RNAs.
BC000853 - Homo sapiens chromosome 2 open reading frame 3, mRNA (cDNA clone IMAGE:3459069), complete cds.
EF158467 - Homo sapiens C2ORF3 variant 1 (C2orf3) mRNA, complete cds, alternatively spliced.
KJ901783 - Synthetic construct Homo sapiens clone ccsbBroadEn_11177 GCFC2 gene, encodes complete protein.
LF363120 - JP 2014500723-A/170623: Polycomb-Associated Non-Coding RNAs.
LF363117 - JP 2014500723-A/170620: Polycomb-Associated Non-Coding RNAs.
MA598706 - JP 2018138019-A/170632: Polycomb-Associated Non-Coding RNAs.
MA598701 - JP 2018138019-A/170627: Polycomb-Associated Non-Coding RNAs.
MA598699 - JP 2018138019-A/170625: Polycomb-Associated Non-Coding RNAs.
MA598697 - JP 2018138019-A/170623: Polycomb-Associated Non-Coding RNAs.
MA598694 - JP 2018138019-A/170620: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P16383 (Reactome details) participates in the following event(s):

R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: A4UHQ8, A4UHQ9, C2orf3, ENST00000321027.1, ENST00000321027.2, ENST00000321027.3, ENST00000321027.4, ENST00000321027.5, ENST00000321027.6, ENST00000321027.7, GCF, GCFC2_HUMAN, NM_003203, O95032, P16383, Q53TY0, Q6P2F2, TCF9, uc317qzj.1, uc317qzj.2
UCSC ID: ENST00000321027.8_15
RefSeq Accession: NM_003203.5
Protein: P16383 (aka GCFC2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.