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 neu... See more...

Aliases for TFAP2C Gene

Aliases for TFAP2C Gene

  • Transcription Factor AP-2 Gamma 2 3 4 5
  • Activating Enhancer-Binding Protein 2 Gamma 3 4
  • Estrogen Receptor Factor 1 2 3
  • Transcription Factor ERF-1 3 4
  • AP2-GAMMA 2 3
  • TFAP2G 2 3
  • HAP-2g 2 3
  • ERF1 2 3
  • Transcription Factor AP-2 Gamma (Activating Enhancer-Binding Protein 2 Gamma) 2
  • AP2-Gamma 4
  • TFAP2C 5

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 Extragonadal Seminoma and Char Syndrome. Among its related pathways are Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is TFAP2A.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TFAP2C Gene

Genomics for TFAP2C Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH20J056628 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +3.7 3677 10 ZBTB10 ZNF217 CTCF BRCA1 ZBTB7B ELF1 SIN3A MBD2 CUX1 MAX TFAP2C RNU6-1146P PTMAP6 lnc-GCNT7-6 RF00026-651 BMP7
GH20J056624 Promoter/Enhancer 0.7 EPDnew ENCODE 250.7 -4.3 -4298 0.2 SP1 EZH2 TFAP2C RF00017-3645 FAM209B
GH20J056786 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 13.5 +159.3 159288 5.1 CHD2 CEBPA ZNF217 DEK BRCA1 ZBTB7B ELF1 CEBPB MBD2 CUX1 TFAP2C AURKA RF00026-652 RNU6-929P Hsa-Mir-574_5p-043 lnc-TFAP2C-6 BMP7
GH20J056803 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 4 +175.7 175651 2 ARID3A PLRG1 ZNF217 SIX4 ZBTB7B ELF1 NONO MBD2 CUX1 HES1 Hsa-Mir-574_5p-043 HMGB1P1 PTMAP6 RAE1 TFAP2C HSALNG0131102 RF00026-652 RNU6-929P BMP7
GH20J056688 Enhancer 0.7 ENCODE 5.8 +60.9 60936 2.8 ZNF217 ELF1 CTBP1 SIN3A NFE2 TCF7L2 SMARCE1 MAZ CTCF SCRT1 HSALNG0131083 RF00017-3646 RN7SL170P lnc-TFAP2C-5 RNU6-1146P TFAP2C lnc-GCNT7-3 PTMAP6 BMP7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TFAP2C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TFAP2C

Top Transcription factor binding sites by QIAGEN in the TFAP2C gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA

Genomic Locations for TFAP2C Gene

Latest Assembly
chr20:56,629,306-56,639,283
(GRCh38/hg38)
Size:
9,978 bases
Orientation:
Plus strand

Previous Assembly
chr20:55,204,362-55,214,339
(GRCh37/hg19 by Entrez Gene)
Size:
9,978 bases
Orientation:
Plus strand

chr20:55,204,358-55,214,339
(GRCh37/hg19 by Ensembl)
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

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:

Antibodies for research

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

Protein Domains for TFAP2C Gene

InterPro:
Blocks:
  • Transcription factor AP-2 signature
  • Transcription factor AP-2 gamma signature
ProtoNet:

Suggested Antigen Peptide Sequences for TFAP2C Gene

GenScript: Design optimal peptide antigens:
  • Transcription factor ERF-1 (AP2C_HUMAN)
  • cDNA FLJ50899, highly similar to Transcription factor AP-2 gamma (B4DWK3_HUMAN)
  • Transcription factor AP-2 gamma (Q8IWX4_HUMAN)

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

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.
GENATLAS Biochemistry:
transcription factor 2 gamma (AP2 gamma) regulating the expression of genes required for development of ectodermal tissues

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 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 24413532
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 11278550
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 11278550
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:
Targeted motifs for TFAP2C Gene
HOMER Transcription Factor Regulatory Elements motif TFAP2C
  • Consensus sequence: SCCTSAGGSCAW Submotif: canonical Cell Type: MCF7 GEO ID: GSE21234

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFAP2C

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
mitochondrion 4
cytosol 4
extracellular 2
cytoskeleton 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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:0000785 chromatin ISA --
GO:0005634 nucleus IEA,IDA 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

SIGNOR curated interactions for TFAP2C Gene

Activates:

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:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS --
GO:0007267 cell-cell signaling TAS 9113991
GO:0008584 male gonad development IEP 17848411
genes like me logo Genes that share ontologies with TFAP2C: view

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

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFAP2C

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

No ASD Table

Relevant External Links for TFAP2C Gene

GeneLoc Exon Structure for
TFAP2C

Expression for TFAP2C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TFAP2C Gene



Protein tissue co-expression partners for TFAP2C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TFAP2C

SOURCE GeneReport for Unigene cluster for TFAP2C Gene:

Hs.473152

Evidence on tissue expression from TISSUES for TFAP2C Gene

  • Skin(4.5)
  • Liver(4.3)
  • Nervous system(2.8)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with TFAP2C: view

Primer products for research

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 30 31
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TFAP2C 30 31
  • 91.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TFAP2C 30 31
  • 89.41 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tfap2c 30 17 31
  • 83.07 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tfap2c 30
  • 82.89 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TFAP2C 31
  • 76 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TFAP2C 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TFAP2C 30 31
  • 74.77 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TFAP2C 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tfap2c 30
  • 68.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68493 30
Zebrafish
(Danio rerio)
Actinopterygii tfap2c 30 31
  • 65.15 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta AP-2 31 32
  • 41 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea K06A1.1 32
  • 51 (a)
aptf-1 31
  • 36 (a)
OneToMany
Species where no ortholog for TFAP2C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for TFAP2C: view image

Paralogs for TFAP2C Gene

Paralogs for TFAP2C Gene

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

  • AP2C_HUMAN
  • A2A2R7_HUMAN
  • B4DWK3_HUMAN
genes like me logo Genes that share paralogs with TFAP2C: view

Variants for TFAP2C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TFAP2C Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
813626 Uncertain Significance: Microcephaly 56,631,809(+) T/C
NM_003222.4(TFAP2C):c.539T>C (p.Val180Ala)
MISSENSE
813710 Uncertain Significance: Microcephaly 56,631,655(+) C/T
NM_003222.4(TFAP2C):c.499C>T (p.Leu167Phe)
MISSENSE
rs144019270 Benign: not provided 56,631,279(+) C/T
NM_003222.4(TFAP2C):c.123C>T (p.Ser41=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TFAP2C Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for TFAP2C Gene

MalaCards: The human disease database

(8) MalaCards diseases for TFAP2C Gene - From: COP and GCD

Disorder Aliases PubMed IDs
extragonadal seminoma
  • primary extragonadal seminoma
char syndrome
  • char
exencephaly
breast cancer
  • breast cancer, familial
branchiooculofacial syndrome
  • bofs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TFAP2C

Genetic Association Database
(GAD)
Tumor Gene Family of Databases
(TGDB)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23
  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 23
  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 23
  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
  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

Products for TFAP2C Gene

Sources for TFAP2C Gene