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Aliases for TFAP2C Gene

Aliases for TFAP2C Gene

  • Transcription Factor AP-2 Gamma 2 3 5
  • Activating Enhancer-Binding Protein 2 Gamma 3 4
  • Estrogen Receptor Factor 1 2 3
  • Transcription Factor ERF-1 3 4
  • AP2-GAMMA 3 4
  • Transcription Factor AP-2 Gamma (Activating Enhancer-Binding Protein 2 Gamma) 2
  • TFAP2G 3
  • HAP-2g 3
  • ERF1 3

External Ids for TFAP2C Gene

Previous GeneCards Identifiers for TFAP2C Gene

  • GC20P054932
  • GC20P055842
  • GC20P055889
  • GC20P054637
  • GC20P055204
  • GC20P051987

Summaries for TFAP2C Gene

Entrez Gene Summary for TFAP2C Gene

  • The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]

GeneCards Summary for TFAP2C Gene

TFAP2C (Transcription Factor AP-2 Gamma) is a Protein Coding gene. Diseases associated with TFAP2C include Breast Cancer and Exencephaly. Among its related pathways are Ectoderm Differentiation and SUMOylation. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is TFAP2A.

UniProtKB/Swiss-Prot for TFAP2C Gene

  • Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5-GCCNNNGGC-3 and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer.

Gene Wiki entry for TFAP2C Gene

Additional gene information for TFAP2C Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFAP2C Gene

Genomics for TFAP2C Gene

GeneHancer (GH) Regulatory Elements for TFAP2C Gene

Promoters and enhancers for TFAP2C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I056629 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +4.0 3980 9.4 HDGF PKNOX1 CLOCK NEUROD1 SIN3A ZBTB7B BRCA1 ELK1 ZNF207 ZNF143 TFAP2C CSTF1 ENSG00000280387 RNU6-1146P RAE1 FAM209A PTMAP6
GH20I056628 Enhancer 0.5 ENCODE 550.8 -0.8 -802 0.2 GTF2F1 POLR2A SUZ12 CTBP2 EZH2 TFAP2C RPS4XP3
GH20I056786 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.5 +159.3 159292 5.1 PKNOX1 FOXA2 NEUROD1 SIN3A ZBTB7B BRCA1 ZNF48 ETS1 YY1 GTF3C2 TFAP2C AURKA GC20M056786 RNU6-929P LOC105372683
GH20I056803 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 4 +175.7 175655 2 HDGF PKNOX1 CLOCK NEUROD1 SIN3A YBX1 ZBTB7B ZNF207 FOS ZNF592 ENSG00000280387 FAM209A HMGB1P1 CSTF1 GCNT7 PTMAP6 TFAP2C GC20M056786 RNU6-929P LOC105372683
GH20I056688 Enhancer 0.7 ENCODE 5.8 +60.9 60940 2.8 CTCF ESRRA USF1 NFIB SIN3A CEBPG CTBP1 GATA3 FOS NFE2 RN7SL170P RNU6-1146P TFAP2C PTMAP6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TFAP2C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TFAP2C gene promoter:

Genomic Locations for TFAP2C Gene

Genomic Locations for TFAP2C Gene
chr20:56,629,302-56,639,283
(GRCh38/hg38)
Size:
9,982 bases
Orientation:
Plus strand
chr20:55,204,358-55,214,339
(GRCh37/hg19)

Genomic View for TFAP2C Gene

Genes around TFAP2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFAP2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFAP2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFAP2C Gene

Proteins for TFAP2C Gene

  • Protein details for TFAP2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92754-AP2C_HUMAN
    Recommended name:
    Transcription factor AP-2 gamma
    Protein Accession:
    Q92754
    Secondary Accessions:
    • B4DWK3
    • O00685
    • O00730
    • Q86V30
    • Q8IVB6
    • Q9P1X2

    Protein attributes for TFAP2C Gene

    Size:
    450 amino acids
    Molecular mass:
    49177 Da
    Quaternary structure:
    • Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members (By similarity). Interacts with WWOX. Interacts with CITED4. Interacts with UBE2I. Interacts with KCTD1; this interaction represses transcription activation. Interacts with CITED2 (via C-terminus); the interaction stimulates TFAP2B-transcriptional activity. Interacts with MTA1.

    Alternative splice isoforms for TFAP2C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TFAP2C Gene

Post-translational modifications for TFAP2C Gene

  • Sumoylated on Lys-10; which inhibits transcriptional activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TFAP2C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TFAP2C Gene

Domains & Families for TFAP2C Gene

Gene Families for TFAP2C Gene

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

Graphical View of Domain Structure for InterPro Entry

Q92754

UniProtKB/Swiss-Prot:

AP2C_HUMAN :
  • The PPxY motif mediates interaction with WWOX.
  • Belongs to the AP-2 family.
Domain:
  • The PPxY motif mediates interaction with WWOX.
Family:
  • Belongs to the AP-2 family.
genes like me logo Genes that share domains with TFAP2C: view

Function for TFAP2C Gene

Molecular function for TFAP2C Gene

GENATLAS Biochemistry:
transcription factor 2 gamma (AP2 gamma) regulating the expression of genes required for development of ectodermal tissues
UniProtKB/Swiss-Prot Function:
Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5-GCCNNNGGC-3 and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer.
UniProtKB/Swiss-Prot Induction:
During retinoic acid-mediated differentiation.

Phenotypes From GWAS Catalog for TFAP2C Gene

Gene Ontology (GO) - Molecular Function for TFAP2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0001047 core promoter binding IDA 24413532
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 11278550
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 11278550
GO:0003677 DNA binding IEA,IDA 12072434
genes like me logo Genes that share ontologies with TFAP2C: view
genes like me logo Genes that share phenotypes with TFAP2C: view

Animal Models for TFAP2C Gene

MGI Knock Outs for TFAP2C:

Animal Model Products

CRISPR Products

Targeted motifs for TFAP2C Gene
HOMER Transcription Factor Regulatory Elements motif TFAP2C
  • Consensus sequence: SCCTSAGGSCAW Submotif: canonical Cell Type: MCF7 GEO ID: GSE21234

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for TFAP2C Gene

Localization for TFAP2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFAP2C 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 TFAP2C gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TFAP2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 24413532
GO:0005654 nucleoplasm TAS --
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TFAP2C: view

Pathways & Interactions for TFAP2C Gene

genes like me logo Genes that share pathways with TFAP2C: view

Gene Ontology (GO) - Biological Process for TFAP2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS --
GO:0006366 transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with TFAP2C: view

No data available for SIGNOR curated interactions for TFAP2C Gene

Drugs & Compounds for TFAP2C Gene

(1) Drugs for TFAP2C Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for TFAP2C Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TFAP2C: view

Transcripts for TFAP2C Gene

mRNA/cDNA for TFAP2C Gene

Unigene Clusters for TFAP2C Gene

Transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TFAP2C Gene

No ASD Table

Relevant External Links for TFAP2C Gene

GeneLoc Exon Structure for
TFAP2C
ECgene alternative splicing isoforms for
TFAP2C

Expression for TFAP2C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TFAP2C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TFAP2C Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x9.4), Skin - Sun Exposed (Lower leg) (x8.2), Esophagus - Mucosa (x5.9), Minor Salivary Gland (x4.7), Breast - Mammary Tissue (x4.6), and Cervix - Endocervix (x4.4).

Protein differential expression in normal tissues from HIPED for TFAP2C Gene

This gene is overexpressed in Placenta (63.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TFAP2C Gene



Protein tissue co-expression partners for TFAP2C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TFAP2C Gene:

TFAP2C

SOURCE GeneReport for Unigene cluster for TFAP2C Gene:

Hs.473152

Evidence on tissue expression from TISSUES for TFAP2C Gene

  • Skin(4.4)
  • Liver(4)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with TFAP2C: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TFAP2C Gene

Orthologs for TFAP2C Gene

This gene was present in the common ancestor of animals.

Orthologs for TFAP2C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TFAP2C 33 34
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia TFAP2C 33 34
  • 91.48 (n)
cow
(Bos Taurus)
Mammalia TFAP2C 33 34
  • 89.41 (n)
mouse
(Mus musculus)
Mammalia Tfap2c 33 16 34
  • 83.07 (n)
rat
(Rattus norvegicus)
Mammalia Tfap2c 33
  • 82.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TFAP2C 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TFAP2C 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves TFAP2C 33 34
  • 74.77 (n)
lizard
(Anolis carolinensis)
Reptilia TFAP2C 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfap2c 33
  • 68.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68493 33
zebrafish
(Danio rerio)
Actinopterygii tfap2c 33 34
  • 65.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta AP-2 35 34
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea K06A1.1 35
  • 51 (a)
aptf-1 34
  • 36 (a)
OneToMany
Species where no ortholog for TFAP2C 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)

Evolution for TFAP2C Gene

ENSEMBL:
Gene Tree for TFAP2C (if available)
TreeFam:
Gene Tree for TFAP2C (if available)

Paralogs for TFAP2C Gene

Paralogs for TFAP2C Gene

(4) SIMAP similar genes for TFAP2C Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TFAP2C: view

Variants for TFAP2C Gene

Sequence variations from dbSNP and Humsavar for TFAP2C Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000447310 -- 56,634,306(+) A/T intron_variant
rs1000478393 -- 56,634,573(+) A/G intron_variant
rs1000642112 -- 56,635,077(+) T/C intron_variant
rs1000783855 -- 56,635,693(+) G/T intron_variant
rs1000792482 -- 56,628,887(+) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TFAP2C Gene

Variant ID Type Subtype PubMed ID
esv1005986 CNV deletion 20482838
nsv1056574 CNV gain 25217958
nsv1061975 CNV gain 25217958
nsv525425 CNV gain 19592680
nsv834015 CNV loss 17160897

Variation tolerance for TFAP2C Gene

Residual Variation Intolerance Score: 29.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.28; 40.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TFAP2C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TFAP2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFAP2C Gene

Disorders for TFAP2C Gene

MalaCards: The human disease database

(4) MalaCards diseases for TFAP2C Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
breast cancer
  • breast cancer, familial
exencephaly
testicular leukemia
extragonadal seminoma
  • primary extragonadal seminoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TFAP2C

Genetic Association Database
(GAD)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TFAP2C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TFAP2C Gene

Publications for TFAP2C Gene

  1. Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors. (PMID: 8661133) Williamson JA … Hurst HC (Genomics 1996) 2 3 4 22 58
  2. Physical and functional interactions between the Wwox tumor suppressor protein and the AP-2gamma transcription factor. (PMID: 15548692) Aqeilan RI … Croce CM (Cancer research 2004) 3 4 22 58
  3. Identification of ERF-1 as a member of the AP2 transcription factor family. (PMID: 9113991) McPherson LA … Weigel RJ (Proceedings of the National Academy of Sciences of the United States of America 1997) 3 4 22 58
  4. Differential regulation of estrogen receptor α expression in breast cancer cells by metastasis-associated protein 1. (PMID: 24413532) Kang HJ … Lee MO (Cancer research 2014) 3 4 58
  5. The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation. (PMID: 19115315) Ding X … Zhang J (Journal of cellular biochemistry 2009) 3 4 58

Products for TFAP2C Gene

Sources for TFAP2C Gene

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