This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoters, and it activates many other cellular and viral gene promoters. The gene product interacts with certain inflammatory respon... See more...

Aliases for TFCP2 Gene

Aliases for TFCP2 Gene

  • Transcription Factor CP2 2 3 5
  • Alpha-Globin Transcription Factor CP2 3 4
  • SAA3 Enhancer Factor 3 4
  • LSF 3 4
  • SEF 3 4
  • Transcription Factor LSF 4
  • TFCP2C 3
  • LBP1C 3
  • LSF1D 3

External Ids for TFCP2 Gene

Previous GeneCards Identifiers for TFCP2 Gene

  • GC12M051655
  • GC12P051583
  • GC12M051205
  • GC12M049774
  • GC12M051488
  • GC12M048519

Summaries for TFCP2 Gene

Entrez Gene Summary for TFCP2 Gene

  • This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoters, and it activates many other cellular and viral gene promoters. The gene product interacts with certain inflammatory response factors, and polymorphisms of this gene may be involved in the pathogenesis of Alzheimer's disease. [provided by RefSeq, Mar 2010]

GeneCards Summary for TFCP2 Gene

TFCP2 (Transcription Factor CP2) is a Protein Coding gene. Diseases associated with TFCP2 include Deafness, Autosomal Dominant 28 and Spindle Cell Rhabdomyosarcoma. Among its related pathways are DNA Damage and Signaling events mediated by HDAC Class I. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is UBP1.

UniProtKB/Swiss-Prot Summary for TFCP2 Gene

  • Binds a variety of cellular and viral promoters including fibrinogen, alpha-globin, SV40 and HIV-1 promoters. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with UBP1 (By similarity). Functions as part of the SSP (stage selector protein) complex. Facilitates the interaction of the gamma-globin genes with enhancer elements contained in the locus control region in fetal erythroid cells. Interacts by binding to the stage selector element (SSE) in the proximal gamma-globin promoter.

Gene Wiki entry for TFCP2 Gene

Additional gene information for TFCP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TFCP2 Gene

Genomics for TFCP2 Gene

GeneHancer (GH) Regulatory Elements for TFCP2 Gene

Promoters and enhancers for TFCP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TFCP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TFCP2 gene promoter:
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • E2F-3a

Genomic Locations for TFCP2 Gene

Genomic Locations for TFCP2 Gene
chr12:51,093,663-51,173,143
(GRCh38/hg38)
Size:
79,481 bases
Orientation:
Minus strand
chr12:51,487,446-51,566,926
(GRCh37/hg19)
Size:
79,481 bases
Orientation:
Minus strand

Genomic View for TFCP2 Gene

Genes around TFCP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFCP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFCP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFCP2 Gene

Proteins for TFCP2 Gene

  • Protein details for TFCP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12800-TFCP2_HUMAN
    Recommended name:
    Alpha-globin transcription factor CP2
    Protein Accession:
    Q12800
    Secondary Accessions:
    • A8K5E9
    • Q12801
    • Q9UD75
    • Q9UD77

    Protein attributes for TFCP2 Gene

    Size:
    502 amino acids
    Molecular mass:
    57256 Da
    Quaternary structure:
    • Binds to DNA as a dimer, isoform 3 does not bind to DNA or affect the binding of isoform 1 to DNA. Interacts with UBP1 and PIAS1, and is probably part of a complex containing TFCP2, UBP1 and PIAS1 (By similarity). Component of the SSP (stage selector protein) complex, which appears to be a heteromer of TFCP2 and 2 copies of NFE4.
    Miscellaneous:
    • In PubMed:8114710 authors noted that a 10-fold molar excess of isoform 3 over isoform 1 inhibited DNA-binding.

    Alternative splice isoforms for TFCP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TFCP2 Gene

Post-translational modifications for TFCP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TFCP2 Gene

No data available for DME Specific Peptides for TFCP2 Gene

Domains & Families for TFCP2 Gene

Gene Families for TFCP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TFCP2 Gene

Suggested Antigen Peptide Sequences for TFCP2 Gene

GenScript: Design optimal peptide antigens:
  • Transcription factor LSF (TFCP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q12800

UniProtKB/Swiss-Prot:

TFCP2_HUMAN :
  • Belongs to the grh/CP2 family. CP2 subfamily.
Family:
  • Belongs to the grh/CP2 family. CP2 subfamily.
genes like me logo Genes that share domains with TFCP2: view

Function for TFCP2 Gene

Molecular function for TFCP2 Gene

UniProtKB/Swiss-Prot Function:
Binds a variety of cellular and viral promoters including fibrinogen, alpha-globin, SV40 and HIV-1 promoters. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with UBP1 (By similarity). Functions as part of the SSP (stage selector protein) complex. Facilitates the interaction of the gamma-globin genes with enhancer elements contained in the locus control region in fetal erythroid cells. Interacts by binding to the stage selector element (SSE) in the proximal gamma-globin promoter.
GENATLAS Biochemistry:
alpha-globin transcription factor,CP2,with homology to Drosophila transcription factor Elf-1/NTF-1,dimerizing with NFE2 to form the stage selector protein complex

Phenotypes From GWAS Catalog for TFCP2 Gene

Gene Ontology (GO) - Molecular Function for TFCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0000987 proximal promoter sequence-specific DNA binding IDA 16263792
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding TAS 8035790
genes like me logo Genes that share ontologies with TFCP2: view
genes like me logo Genes that share phenotypes with TFCP2: view

Animal Models for TFCP2 Gene

MGI Knock Outs for TFCP2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFCP2

Clone Products

  • Addgene plasmids for TFCP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TFCP2 Gene

Localization for TFCP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFCP2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFCP2 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2
extracellular 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TFCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 11003662
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0032991 protein-containing complex IMP 16263792
genes like me logo Genes that share ontologies with TFCP2: view

Pathways & Interactions for TFCP2 Gene

genes like me logo Genes that share pathways with TFCP2: view

Pathways by source for TFCP2 Gene

1 BioSystems pathway for TFCP2 Gene
1 GeneGo (Thomson Reuters) pathway for TFCP2 Gene
3 Cell Signaling Technology pathways for TFCP2 Gene

SIGNOR curated interactions for TFCP2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TFCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IEA,IDA 16263792
GO:0042789 mRNA transcription by RNA polymerase II IDA 11003662
GO:0045944 positive regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with TFCP2: view

Drugs & Compounds for TFCP2 Gene

(1) Additional Compounds for TFCP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TFCP2: view

Transcripts for TFCP2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFCP2

Clone Products

  • Addgene plasmids for TFCP2

Alternative Splicing Database (ASD) splice patterns (SP) for TFCP2 Gene

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

Relevant External Links for TFCP2 Gene

GeneLoc Exon Structure for
TFCP2
ECgene alternative splicing isoforms for
TFCP2

Expression for TFCP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TFCP2 Gene

Protein differential expression in normal tissues from HIPED for TFCP2 Gene

This gene is overexpressed in Breast (10.8), Fetal gut (8.2), and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TFCP2 Gene



Protein tissue co-expression partners for TFCP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TFCP2 Gene:

TFCP2

SOURCE GeneReport for Unigene cluster for TFCP2 Gene:

Hs.48849

mRNA Expression by UniProt/SwissProt for TFCP2 Gene:

Q12800-TFCP2_HUMAN
Tissue specificity: Ubiquitous. Expressed in brain, ovary, kidney, thymus, spleen, liver, adrenal, heart and lung (at protein level).

Evidence on tissue expression from TISSUES for TFCP2 Gene

  • Liver(4.3)
  • Muscle(4.2)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with TFCP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TFCP2 Gene

Orthologs for TFCP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TFCP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TFCP2 33 32
  • 99.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TFCP2 33 32
  • 94.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TFCP2 33 32
  • 94.2 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfcp2 32
  • 88.4 (n)
mouse
(Mus musculus)
Mammalia Tfcp2 17 33 32
  • 88.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TFCP2 33
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 56 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TFCP2 33 32
  • 79.66 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TFCP2 33
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfcp2 32
  • 80.35 (n)
Str.862 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.4868 32
zebrafish
(Danio rerio)
Actinopterygii tfcp2 33 32
  • 79.33 (n)
OneToOne
wufc10e04 32
fruit fly
(Drosophila melanogaster)
Insecta gem 32
  • 53.49 (n)
Species where no ortholog for TFCP2 was found in the sources mined by GeneCards:
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TFCP2 Gene

ENSEMBL:
Gene Tree for TFCP2 (if available)
TreeFam:
Gene Tree for TFCP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TFCP2: view image

Paralogs for TFCP2 Gene

Paralogs for TFCP2 Gene

(3) SIMAP similar genes for TFCP2 Gene using alignment to 3 proteins:

  • TFCP2_HUMAN
  • F8VWL0_HUMAN
  • F8VX55_HUMAN
genes like me logo Genes that share paralogs with TFCP2: view

Variants for TFCP2 Gene

Sequence variations from dbSNP and Humsavar for TFCP2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000005599 -- 51,151,843(-) T/C intron_variant
rs1000031856 -- 51,159,190(-) A/G intron_variant
rs1000094972 -- 51,165,519(-) TATGATCC/ intron_variant
rs1000104445 -- 51,098,499(-) G/A intron_variant
rs1000119318 -- 51,150,761(-) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TFCP2 Gene

Variant ID Type Subtype PubMed ID
esv2762980 CNV gain 21179565
esv34039 CNV loss 18971310
esv3444649 CNV insertion 20981092
nsv1119954 CNV deletion 24896259
nsv1145604 CNV deletion 24896259
nsv703 CNV insertion 18451855
nsv973065 CNV duplication 23825009
nsv983323 CNV duplication 23825009

Variation tolerance for TFCP2 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TFCP2 Gene

Human Gene Mutation Database (HGMD)
TFCP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TFCP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFCP2 Gene

Disorders for TFCP2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TFCP2 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TFCP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TFCP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TFCP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TFCP2 Gene

Publications for TFCP2 Gene

  1. Characterization of the genomic structure, chromosomal location, promoter, and development expression of the alpha-globin transcription factor CP2. (PMID: 8157699) Swendeman SL … Sheffery M (The Journal of biological chemistry 1994) 2 3 4 23 56
  2. Association of polymorphism in the transcription factor LBP-1c/CP2/LSF gene with Alzheimer's disease and major depression. (PMID: 16710089) Schahab S … Kölsch H (Dementia and geriatric cognitive disorders 2006) 3 23 43 56
  3. Further evidence for LBP-1c/CP2/LSF association in Alzheimer's disease families. (PMID: 16272261) Bertram L … Tanzi RE (Journal of medical genetics 2005) 3 23 43 56
  4. Induction of human fetal globin gene expression by a novel erythroid factor, NF-E4. (PMID: 11003662) Zhou W … Jane SM (Molecular and cellular biology 2000) 3 4 23 56
  5. Purification and characterization of the serum amyloid A3 enhancer factor. (PMID: 10455131) Bing Z … Liao WS (The Journal of biological chemistry 1999) 3 4 23 56

Products for TFCP2 Gene

Sources for TFCP2 Gene