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Aliases for TFAP2C Gene

Aliases for TFAP2C Gene

  • Transcription Factor AP-2 Gamma 2 3
  • Transcription Factor AP-2 Gamma (Activating Enhancer-Binding Protein 2 Gamma) 2 3
  • Transcription Factor AP-2 Gamma (Activating Enhancer Binding Protein 2 Gamma) 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
  • 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 DNA Damage and Apoptosis and Autophagy. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is TFAP2E.

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

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

Genomics for TFAP2C Gene

Regulatory Elements for TFAP2C Gene

Enhancers for TFAP2C 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 TFAP2C on UCSC Golden Path with GeneCards custom track

Promoters for TFAP2C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TFAP2C on UCSC Golden Path with GeneCards custom track

Genomic Location for TFAP2C Gene

Chromosome:
20
Start:
56,629,302 bp from pter
End:
56,639,283 bp from pter
Size:
9,982 bases
Orientation:
Plus strand

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

Proteomics data for TFAP2C Gene at MOPED

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:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TFAP2C (AP-2 gamma)

No data available for DME Specific Peptides for TFAP2C Gene

Domains & Families for TFAP2C Gene

Graphical View of Domain Structure for InterPro Entry

Q92754

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for TFAP2C Gene

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.

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:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 11278550
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,TAS 9113991
GO:0005515 protein binding IPI 11694877
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

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
Jensen Localization Image for TFAP2C Gene COMPARTMENTS Subcellular localization image for TFAP2C gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for TFAP2C Gene

Pathways & Interactions for TFAP2C Gene

SuperPathways for TFAP2C Gene

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

Pathways by source for TFAP2C Gene

2 Cell Signaling Technology pathways for TFAP2C Gene

Gene Ontology (GO) - Biological Process for TFAP2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 11278550
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007267 cell-cell signaling TAS 9113991
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:

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 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, MOPED, and MaxQB for TFAP2C Gene



SOURCE GeneReport for Unigene cluster for TFAP2C Gene Hs.473152

genes like me logo Genes that share expression patterns with TFAP2C: view

Protein tissue co-expression partners for TFAP2C Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia TFAP2C 35
  • 89.41 (n)
  • 94.22 (a)
TFAP2C 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TFAP2C 35
  • 91.48 (n)
  • 95.33 (a)
TFAP2C 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tfap2c 35
  • 83.07 (n)
  • 89.76 (a)
Tfap2c 16
Tfap2c 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TFAP2C 35
  • 99.41 (n)
  • 100 (a)
TFAP2C 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfap2c 35
  • 82.89 (n)
  • 91.56 (a)
oppossum
(Monodelphis domestica)
Mammalia TFAP2C 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFAP2C 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves TFAP2C 35
  • 74.77 (n)
  • 77.93 (a)
TFAP2C 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TFAP2C 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfap2c 35
  • 68.41 (n)
  • 71.14 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68493 35
zebrafish
(Danio rerio)
Actinopterygii tfap2c 35
  • 65.15 (n)
  • 67.88 (a)
tfap2c 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta AP-2 37
  • 49 (a)
AP-2 36
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K06A1.1 37
  • 51 (a)
aptf-1 36
  • 36 (a)
OneToMany
Species with no ortholog for TFAP2C:
  • 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 Sequence Context AA Info Type
rs1720 -- 56,638,026(+) ACGAA(A/G)AAAGG utr-variant-3-prime
rs1048520 -- 56,638,131(+) CCTTA(C/G)TATTT utr-variant-3-prime
rs1474983 -- 56,636,934(-) AATCA(A/T)ACAAA intron-variant
rs1475232 -- 56,635,439(+) TAGCT(C/G)TTCCA intron-variant
rs3787377 -- 56,634,807(+) GCCCA(C/T)GCACA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv525425 CNV Gain 19592680
nsv834015 CNV Loss 17160897
esv1005986 CNV Deletion 20482838

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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, invasive ductal
exencephaly
testicular leukemia
extragonadal seminoma
  • primary extragonadal seminoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TFAP2C

Genetic Association Database (GAD)
TFAP2C
Tumor Gene Database (TGDB):
TFAP2C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TFAP2C
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 J.A. … Hurst H.C. (Genomics 1996) 2 3 4 23 67
  2. Activator protein-2 impairs the invasion of a human extravillous trophoblast cell line. (PMID: 19443578) Kotani T. … Kikkawa F. (Endocrinology 2009) 3 23
  3. Identification of target genes of transcription factor activator protein 2 gamma in breast cancer cells. (PMID: 19671168) Ailan H. … Shuanglin X. (BMC Cancer 2009) 3 23
  4. AP-2gamma promotes proliferation in breast tumour cells by direct repression of the CDKN1A gene. (PMID: 19798054) Williams C.M. … Hurst H.C. (EMBO J. 2009) 3 23
  5. Immunohistochemical expression patterns of AP2alpha and AP2gamma in the developing fetal human breast. (PMID: 18042070) Friedrichs N. … Knoepfle G. (Histopathology 2007) 3 23

Products for TFAP2C Gene

Sources for TFAP2C Gene

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