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Aliases for TFAP2C Gene

Aliases for TFAP2C Gene

  • Transcription Factor AP-2 Gamma (Activating Enhancer Binding Protein 2 Gamma) 2 3
  • Transcription Factor AP-2 Gamma (Activating Enhancer-Binding Protein 2 Gamma) 2 3
  • 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 3
  • 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 (Activating Enhancer Binding Protein 2 Gamma)) is a Protein Coding gene. Diseases associated with TFAP2C include exencephaly. Among its related pathways are Cell Cycle / Checkpoint Control and Apoptosis and Autophagy. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription. 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

Genomic Location for TFAP2C Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:

No data available for DME Specific Peptides for TFAP2C Gene

Domains for TFAP2C Gene

Suggested Antigen Peptide Sequences for TFAP2C Gene

Graphical View of Domain Structure for InterPro Entry

Q92754

UniProtKB/Swiss-Prot:

AP2C_HUMAN :
  • Q92754
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:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity --
GO:0001047 core promoter binding IDA 24413532
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription 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:

miRNA for TFAP2C Gene

miRTarBase miRNAs that target TFAP2C
Targeting motifs for TFAP2C Gene
HOMER Transcription Factor Regulatory Elements motif TFAP2C
  • Consensus sequence: SCCTSAGGSCAW Submotif: canonical Cell Type: MCF7 GeoId: GSE21234

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting 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 4
cytosol 2

Gene Ontology (GO) - Cellular Components for TFAP2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 24413532
genes like me logo Genes that share ontologies with TFAP2C: view

Pathways 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:0001829 trophectodermal cell differentiation IEA --
GO:0001942 hair follicle development IEA --
GO:0003334 keratinocyte development IEA --
GO:0006355 regulation of transcription, DNA-templated --
genes like me logo Genes that share ontologies with TFAP2C: view

Compounds for TFAP2C Gene

(3) Novoseek inferred chemical compound relationships for TFAP2C Gene

Compound -log(P) Hits PubMed IDs
3beta-hydroxysteroid 44 1
estrogen 29.2 4
retinoic acid 6.35 3
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) (9.4), Skin - Sun Exposed (Lower leg) (8.2), Esophagus - Mucosa (5.9), Minor Salivary Gland (4.7), Breast - Mammary Tissue (4.6), and Cervix - Endocervix (4.4).

Integrated Proteomics: protein expression 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 expressions with TFAP2C: view

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
chimpanzee
(Pan troglodytes)
Mammalia TFAP2C 35
  • 99.41 (n)
  • 100 (a)
TFAP2C 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia TFAP2C 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFAP2C 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfap2c 35
  • 82.89 (n)
  • 91.56 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia MGC68493 35
tropical clawed frog
(Silurana tropicalis)
Amphibia tfap2c 35
  • 68.41 (n)
  • 71.14 (a)
zebrafish
(Danio rerio)
Actinopterygii tfap2c 35
  • 65.15 (n)
  • 67.88 (a)
tfap2c 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta AP-2 36
  • 41 (a)
OneToMany
AP-2 37
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea aptf-1 36
  • 36 (a)
OneToMany
K06A1.1 37
  • 51 (a)
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

Selected 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 MAF
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
rs2870753 -- 56,638,256(+) TTTAT(G/T)CATTA utr-variant-3-prime

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

Relevant External Links for TFAP2C Gene

HapMap Linkage Disequilibrium report
TFAP2C

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

Disorders for TFAP2C Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for TFAP2C Gene including...

Search for TFAP2C Gene in MalaCards »

(6) Novoseek inferred disease relationships for TFAP2C Gene

Disease -log(P) Hits PubMed IDs
breast carcinoma 57.7 11
breast cancer 44.7 16
carcinoma 34.6 10
endometrial carcinoma 25.6 1
tumors 16.6 17

Relevant External Links for TFAP2C

Genetic Association Database (GAD)
TFAP2C
Tumor Gene Database (TGDB):
TFAP2C
genes like me logo Genes that share disorders with TFAP2C: view

No data available for UniProtKB/Swiss-Prot 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
  2. Identification of ERF-1 as a member of the AP2 transcription factor family. (PMID: 9113991) McPherson L.A. … Weigel R.J. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 23
  3. Physical and functional interactions between the Wwox tumor suppressor protein and the AP-2gamma transcription factor. (PMID: 15548692) Aqeilan R.I. … Croce C.M. (Cancer Res. 2004) 3 4 23
  4. Dominant negative interference of transcription factor AP-2 causes inhibition of ErbB-3 expression and suppresses malignant cell growth. (PMID: 11859873) Zhu C.H. … Domann F.E. (Breast Cancer Res. Treat. 2002) 3 23
  5. Sp1 and Sp3 Are important regulators of AP-2gamma gene transcription. (PMID: 12801994) Li M. … Kellems R.E. (Biol. Reprod. 2003) 3 23

Products for TFAP2C Gene

Sources for TFAP2C Gene

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