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Aliases for GCFC2 Gene

Aliases for GCFC2 Gene

  • GC-Rich Sequence DNA-Binding Factor 2 2 3 5
  • Transcription Factor 9 (Binds GC-Rich Sequences) 2 3
  • GC Binding Factor 2 3
  • C2orf3 3 4
  • TCF-9 3 4
  • TCF9 3 4
  • GCF 3 4
  • GC-Rich Sequence DNA-Binding Factor 4
  • Chromosome 2 Open Reading Frame 3 2
  • Transcription Factor 9 4
  • GC Bindng Factor 3
  • DNABF 3

External Ids for GCFC2 Gene

Previous HGNC Symbols for GCFC2 Gene

  • TCF9
  • C2orf3

Previous GeneCards Identifiers for GCFC2 Gene

  • GC02M075880

Summaries for GCFC2 Gene

Entrez Gene Summary for GCFC2 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for GCFC2 Gene

GCFC2 (GC-Rich Sequence DNA-Binding Factor 2) is a Protein Coding gene. Diseases associated with GCFC2 include Reading Disorder. Among its related pathways are ERK Signaling and WNT Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is PAXBP1.

UniProtKB/Swiss-Prot for GCFC2 Gene

  • 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. Involved in pre-mRNA splicing through regulating spliceosome C complex formation. May play a role during late-stage splicing events and turnover of excised inrons.

Gene Wiki entry for GCFC2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCFC2 Gene

Genomics for GCFC2 Gene

Regulatory Elements for GCFC2 Gene

Enhancers for GCFC2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GCFC2 on UCSC Golden Path with GeneCards custom track

Promoters for GCFC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GCFC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GCFC2 Gene

Chromosome:
2
Start:
75,652,000 bp from pter
End:
75,710,989 bp from pter
Size:
58,990 bases
Orientation:
Minus strand

Genomic View for GCFC2 Gene

Genes around GCFC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCFC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCFC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCFC2 Gene

Proteins for GCFC2 Gene

  • Protein details for GCFC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16383-GCFC2_HUMAN
    Recommended name:
    GC-rich sequence DNA-binding factor 2
    Protein Accession:
    P16383
    Secondary Accessions:
    • A4UHQ8
    • A4UHQ9
    • O95032
    • Q53TY0
    • Q6P2F2

    Protein attributes for GCFC2 Gene

    Size:
    781 amino acids
    Molecular mass:
    89385 Da
    Quaternary structure:
    • Found in the Intron Large (IL) complex, a post-mRNA release spliceosomal complex containing the excised intron, U2, U5 and U6 snRNPs, and splicing factors. Interacts with TFIP11 and DHX15.
    SequenceCaution:
    • Sequence=AAA35598.1; Type=Frameshift; Positions=147; Evidence={ECO:0000305}; Sequence=AAA35598.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. The N-terminus matches the 2q37.3 region.; Evidence={ECO:0000305};

    Alternative splice isoforms for GCFC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GCFC2 Gene

Proteomics data for GCFC2 Gene at MOPED

Post-translational modifications for GCFC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GCFC2 Gene

Domains & Families for GCFC2 Gene

Protein Domains for GCFC2 Gene

Suggested Antigen Peptide Sequences for GCFC2 Gene

Graphical View of Domain Structure for InterPro Entry

P16383

UniProtKB/Swiss-Prot:

GCFC2_HUMAN :
  • Belongs to the GCF family.
Family:
  • Belongs to the GCF family.
genes like me logo Genes that share domains with GCFC2: view

No data available for Gene Families for GCFC2 Gene

Function for GCFC2 Gene

Molecular function for GCFC2 Gene

UniProtKB/Swiss-Prot 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. Involved in pre-mRNA splicing through regulating spliceosome C complex formation. May play a role during late-stage splicing events and turnover of excised inrons.

Phenotypes for GCFC2 Gene

genes like me logo Genes that share phenotypes with GCFC2: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GCFC2 Gene

Localization for GCFC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCFC2 Gene

Nucleus, nucleoplasm. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GCFC2 Gene COMPARTMENTS Subcellular localization image for GCFC2 gene
Compartment Confidence
nucleus 5
cytoskeleton 1
cytosol 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for GCFC2 Gene

Pathways & Interactions for GCFC2 Gene

genes like me logo Genes that share pathways with GCFC2: view

Gene Ontology (GO) - Biological Process for GCFC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045892 negative regulation of transcription, DNA-templated NAS 10500253
genes like me logo Genes that share ontologies with GCFC2: view

No data available for SIGNOR curated interactions for GCFC2 Gene

Drugs & Compounds for GCFC2 Gene

(1) Drugs for GCFC2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with GCFC2: view

Transcripts for GCFC2 Gene

Unigene Clusters for GCFC2 Gene

GC-rich sequence DNA-binding factor 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GCFC2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^
SP1: - - - - - - -
SP2: - - - - -
SP3: -
SP4: - -
SP5: - - -
SP6: - - - -
SP7: - -

ExUns: 14 ^ 15 ^ 16 ^ 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for GCFC2 Gene

GeneLoc Exon Structure for
GCFC2
ECgene alternative splicing isoforms for
GCFC2

Expression for GCFC2 Gene

mRNA expression in normal human tissues for GCFC2 Gene

Protein differential expression in normal tissues from HIPED for GCFC2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (18.3) and Bone (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GCFC2 Gene



SOURCE GeneReport for Unigene cluster for GCFC2 Gene Hs.303808

mRNA Expression by UniProt/SwissProt for GCFC2 Gene

P16383-GCFC2_HUMAN
Tissue specificity: Widely expressed in tissues and cell lines.
genes like me logo Genes that share expression patterns with GCFC2: view

Protein tissue co-expression partners for GCFC2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GCFC2 Gene

Orthologs for GCFC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GCFC2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GCFC2 35
  • 86.4 (n)
  • 78.12 (a)
GCFC2 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GCFC2 35
  • 87.08 (n)
  • 80.74 (a)
GCFC2 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gcfc2 35
  • 79.4 (n)
  • 71 (a)
Gcfc2 16
Gcfc2 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GCFC2 35
  • 98.98 (n)
  • 98.46 (a)
GCFC2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gcfc2 35
  • 79.43 (n)
  • 71.98 (a)
oppossum
(Monodelphis domestica)
Mammalia GCFC2 36
  • 35 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCFC2 36
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 44 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
-- 36
  • 31 (a)
OneToMany
-- 36
  • 37 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
-- 36
  • 40 (a)
OneToMany
-- 36
  • 52 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
-- 36
  • 38 (a)
OneToMany
-- 36
  • 48 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
-- 36
  • 45 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
-- 36
  • 44 (a)
OneToMany
-- 36
  • 41 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
-- 36
  • 45 (a)
OneToMany
-- 36
  • 48 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734739 35
  • 58.15 (n)
  • 49.1 (a)
Str.15866 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15559 35
zebrafish
(Danio rerio)
Actinopterygii gcfc2 35
  • 51.92 (n)
  • 39.35 (a)
gcfc2 36
  • 31 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1965 36
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F43G9.12 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
OneToMany
Species with no ortholog for GCFC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GCFC2 Gene

ENSEMBL:
Gene Tree for GCFC2 (if available)
TreeFam:
Gene Tree for GCFC2 (if available)

Paralogs for GCFC2 Gene

Paralogs for GCFC2 Gene

(2) SIMAP similar genes for GCFC2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with GCFC2: view

Variants for GCFC2 Gene

Sequence variations from dbSNP and Humsavar for GCFC2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_051005 -
rs7560262 - 75,696,287(+) ATCCA(C/T)TGCCA nc-transcript-variant, reference, missense
rs6742946 - 75,694,315(+) AGCTT(C/G)ATTTG nc-transcript-variant, reference, missense
rs6722682 - 75,680,225(+) ACAAG(C/T)GGAAT intron-variant, reference, missense
rs17690300 - 75,665,985(+) AAGTT(G/T)TCTAG nc-transcript-variant, reference, missense

Variation tolerance for GCFC2 Gene

Residual Variation Intolerance Score: 98.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.43; 85.63% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for GCFC2 Gene

Disorders for GCFC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GCFC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
reading disorder
  • specific reading disorder
- elite association - COSMIC cancer census association via MalaCards
Search GCFC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GCFC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GCFC2
genes like me logo Genes that share disorders with GCFC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GCFC2 Gene

Publications for GCFC2 Gene

  1. Identification of a novel component C2ORF3 in the lariat-intron complex: lack of C2ORF3 interferes with pre-mRNA splicing via intron turnover pathway. (PMID: 24304693) Yoshimoto R. … Kataoka N. (Genes Cells 2014) 2 3 4 67
  2. A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. (PMID: 17309879) Anthoni H. … Peyrard-Janvid M. (Hum. Mol. Genet. 2007) 2 3
  3. Expression and chromosomal localization of the gene for the human transcriptional repressor GCF. (PMID: 1370479) Johnson A.C. … Pastan I. (J. Biol. Chem. 1992) 2 3
  4. Molecular cloning and characterization of a human DNA binding factor that represses transcription. (PMID: 2556218) Kageyama R. … Pastan I. (Cell 1989) 2 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for GCFC2 Gene

Sources for GCFC2 Gene

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