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Aliases for TFCP2 Gene

Aliases for TFCP2 Gene

  • Transcription Factor CP2 2 3 5
  • SAA3 Enhancer Factor 3 4
  • SEF 3 4
  • LSF 3 4
  • Alpha-Globin Transcription Factor CP2 3
  • 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 Body Dysmorphic Disorder and Spastic Hemiplegia. Among its related pathways are Adhesion and Dichloroethylene metabolism. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is UBP1.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFCP2 Gene

Genomics for TFCP2 Gene

Regulatory Elements for TFCP2 Gene

Enhancers for TFCP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F051317 0.8 FANTOM5 ENCODE 26.7 -149.9 -149945 10.3 HDGF PKNOX1 ARNT WRNIP1 GATA2 ZNF143 NCOA1 MEF2D ZSCAN16 SMARCA4 TFCP2 CELA1 BIN2 CSRNP2 POU6F1 DAZAP2 SMAGP SLC11A2 PHBP19 GALNT6
GH12F051019 0.2 ENCODE 25.7 +148.6 148579 11.1 CREB3L1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC ATF1 SLC11A2 HNRNPA3P10 TFCP2 CSRNP2 LETMD1 ENSG00000257298 LIMA1 FAM186A ENSG00000272368
GH12F052068 0.7 ENCODE 24.9 -897.3 -897281 2.9 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 TFCP2 HNRNPA3P10 CSRNP2 ENSG00000259884 OR7E47P KRT6C ATG101
GH12F050399 0.5 ENCODE 23 +771.3 771261 4.0 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 LIMA1 PRPF40B ENSG00000257298 CSRNP2 ATF1 TFCP2 CERS5 LOC100422296 RPL35AP28 ENSG00000257964
GH12F051531 1 Ensembl ENCODE 21.2 -358.9 -358859 0.8 HDGF ATF1 CREB3L1 SIN3A ZNF2 ZNF766 ZNF143 NCOA1 REST MBD2 TFCP2 ATF1 HNRNPA3P10 GC12P051516 PIR34472 GC12M051574
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TFCP2 on UCSC Golden Path with GeneCards custom track

Promoters for TFCP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000244070 643 3001 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF143 FOS SP3

Genomic Location for TFCP2 Gene

Chromosome:
12
Start:
51,093,663 bp from pter
End:
51,173,143 bp from pter
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

Protein Domains for TFCP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TFCP2 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for TFCP2 Gene

Function for TFCP2 Gene

Molecular function for TFCP2 Gene

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
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.

Gene Ontology (GO) - Molecular Function for TFCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 8035790
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 8157699
GO:0005515 protein binding IPI 21516116
GO:0043565 sequence-specific DNA binding IBA --
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

Flow Cytometry Products

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
Jensen Localization Image for TFCP2 Gene COMPARTMENTS Subcellular localization image for TFCP2 gene
Compartment Confidence
nucleus 4
cytoskeleton 3
cytosol 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TFCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA,IBA --
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

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

SIGNOR curated interactions for TFCP2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TFCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 8157699
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

Unigene Clusters for TFCP2 Gene

Transcription factor CP2:
Representative Sequences:

Flow Cytometry Products

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 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, PaxDb, 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).
genes like me logo Genes that share expression patterns with TFCP2: view

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 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 34 35
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia TFCP2 34 35
  • 94.49 (n)
cow
(Bos Taurus)
Mammalia TFCP2 34 35
  • 94.2 (n)
rat
(Rattus norvegicus)
Mammalia Tfcp2 34
  • 88.4 (n)
mouse
(Mus musculus)
Mammalia Tfcp2 34 16 35
  • 88.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TFCP2 35
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 56 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TFCP2 34 35
  • 79.66 (n)
lizard
(Anolis carolinensis)
Reptilia TFCP2 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfcp2 34
  • 80.35 (n)
Str.862 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4868 34
zebrafish
(Danio rerio)
Actinopterygii tfcp2 34 35
  • 79.33 (n)
wufc10e04 34
fruit fly
(Drosophila melanogaster)
Insecta gem 34
  • 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)

Paralogs for TFCP2 Gene

Paralogs for TFCP2 Gene

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

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 Sequence Context AA Info Type
rs10099 -- 51,094,099(-) ATGCT(A/G)TGTTT utr-variant-3-prime
rs10506300 -- 51,139,075(-) CAAAT(C/T)TACTC intron-variant
rs10531546 -- 51,109,716(+) GTGAA(-/T)TTTTT intron-variant
rs10542898 -- 51,093,834(+) TTTAA(-/AC)ACACA utr-variant-3-prime
rs10564521 -- 51,174,075(+) GTAAC(-/TT)TATCT upstream-variant-2KB

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)

Relevant External Links for TFCP2 Gene

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

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

Disorders for TFCP2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
body dysmorphic disorder
  • body dysmorphia
spastic hemiplegia
  • congenital hemiplegia
intracranial embolism
  • cerebral embolism
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search TFCP2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TFCP2

Genetic Association Database (GAD)
TFCP2
Human Genome Epidemiology (HuGE) Navigator
TFCP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TFCP2
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 S.L. … Sheffery M. (J. Biol. Chem. 1994) 2 3 4 22 64
  2. Association of polymorphism in the transcription factor LBP-1c/CP2/LSF gene with Alzheimer's disease and major depression. (PMID: 16710089) Schahab S. … KAPlsch H. (Dement Geriatr Cogn Disord 2006) 3 22 46 64
  3. Further evidence for LBP-1c/CP2/LSF association in Alzheimer's disease families. (PMID: 16272261) Bertram L. … Tanzi R.E. (J. Med. Genet. 2005) 3 22 46 64
  4. Induction of human fetal globin gene expression by a novel erythroid factor, NF-E4. (PMID: 11003662) Zhou W. … Jane S.M. (Mol. Cell. Biol. 2000) 3 4 22 64
  5. Purification and characterization of the serum amyloid A3 enhancer factor. (PMID: 10455131) Bing Z. … Liao W.S.-L. (J. Biol. Chem. 1999) 3 4 22 64

Products for TFCP2 Gene

Sources for TFCP2 Gene

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