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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
External Ids for TFAP2C Gene
- HGNC: 11744
- NCBI Entrez Gene: 7022
- Ensembl: ENSG00000087510
- OMIM®: 601602
- UniProtKB/Swiss-Prot: Q92754
Previous GeneCards Identifiers for TFAP2C Gene
- GC20P054932
- GC20P055842
- GC20P055889
- GC20P054637
- GC20P055204
- GC20P051987
Summaries 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.
Additional gene information for TFAP2C Gene
- HGNC (11744)
- NCBI Entrez Gene (7022)
- Ensembl (ENSG00000087510)
- OMIM® (601602)
- UniProtKB/Swiss-Prot (Q92754)
- Open Targets Platform(ENSG00000087510)
- Search for TFAP2C at DataMed
- Search for TFAP2C at HumanCyc
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
- 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:
-
- 20q13.31 by HGNC
- 20q13.31 by Entrez Gene
- 20q13.31 by Ensembl
TFAP2C Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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
- LifeSpan BioSciences TFAP2C / AP2 Gamma Antibody (LS-B2757) and TFAP2C / AP2 Gamma Antibody (LS-B3506)
- G Biosciences Immunotag™ TFAP2C Antibody
-
Custom Antibody ServicesOriGene Antibodies for TFAP2C
- Novus Biologicals Antibodies for TFAP2C
-
Abcam antibodies for TFAP2C
- Invitrogen Antibodies for TFAP2C (AFLGC-TFAP2C)
- antibodies-online: Show 25 available TFAP2C Antibodies ranked by validation data
- Compare Top TFAP2C Antibodies
-
Recommended
- 34 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 77 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 6 IHC Antibodies (anti-human)
- 5 IHC (p) Antibodies (anti-human)
- 1 DB Antibody (anti-human)
- 1 EIA Antibody (anti-human)
- 1 IF Antibody (anti-human)
- 56 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
-
Custom Antibody ServicesProSci Antibodies for TFAP2C
- transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) [25-141]
- transcription factor AP-2, gamma [29-198]
- transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) [28-839]
- transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) [45-259]
-
Santa Cruz Biotechnology (SCBT) Antibodies for TFAP2C
- Sino Biological Antibodies for TFAP2C
Protein products for research
-
OriGene Purified Proteins for TFAP2C
- Search Origene for MassSpec and Protein Over-expression Lysates for TFAP2C
- Origene Custom Protein Services for TFAP2C
- Sino Biological Recombinant Proteins for TFAP2C
- Browse Sino Biological Cell Lysates
-
Abcam proteins for TFAP2C
Assay products 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
Q92754UniProtKB/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.
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
| 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 |
Phenotypes for TFAP2C Gene
- MGI mutant phenotypes for TFAP2C:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for TFAP2C:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability in esophageal squamous lineage
- Decreased vaccinia virus (VACV) infection
- Decreased viability after Maraba virus infection
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased Sindbis virus (SINV) infection
Animal Models for TFAP2C Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TFAP2C - Starting at $85 >
- * TFAP2C CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TFAP2C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TFAP2C
-
Santa Cruz Biotechnology (SCBT) CRISPR for TFAP2C
miRNA for TFAP2C Gene
- miRTarBase miRNAs that target TFAP2C
-
- hsa-miR-10b-5p (MIRT006367)
- hsa-miR-29c-3p (MIRT006384)
- hsa-miR-10a-5p (MIRT025625)
- hsa-miR-190a-3p (MIRT083936)
- hsa-miR-548t-3p (MIRT083941)
- hsa-miR-548aa (MIRT083942)
- hsa-miR-548ap-3p (MIRT083943)
- hsa-miR-5011-5p (MIRT083944)
- hsa-miR-548as-3p (MIRT083945)
- hsa-miR-548at-3p (MIRT083946)
- hsa-miR-548ay-3p (MIRT083947)
- hsa-miR-655-3p (MIRT546341)
- hsa-miR-374c-5p (MIRT546342)
- hsa-miR-5571-5p (MIRT546343)
- hsa-miR-504-5p (MIRT546344)
- hsa-miR-4291 (MIRT720018)
- hsa-miR-1283 (MIRT720019)
- hsa-miR-761 (MIRT720020)
- hsa-miR-3619-5p (MIRT720021)
- hsa-miR-214-3p (MIRT720022)
- hsa-miR-922 (MIRT720023)
- hsa-miR-4690-5p (MIRT720024)
- hsa-miR-6882-5p (MIRT720025)
Targeted motifs for TFAP2C Gene
HOMER Transcription Factor Regulatory Elements motif TFAP2C
- Consensus sequence: SCCTSAGGSCAW Submotif: canonical Cell Type: MCF7 GEO ID: GSE21234
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TFAP2C
- Browse OriGene Inhibitory RNA Products For TFAP2C
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFAP2C
Clone products for research
- Applied Biological Materials (abm): Clones for TFAP2C - Starting at $45 >
- * TFAP2C as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG207174
- MG225955
- MR207174
- MR207174L3
- MR207174L4
- MR225955
- MR225955L1
- MR225955L2
- MR225955L3
- MR225955L4
- RC208665
- RC208665L1
- RC208665L2
- RC208665L3
- RC208665L4
- RG208665
- RR210542
- RR210542L3
- RR210542L4
- MR207174L3V
- MR207174L4V
- MR225955L1V
- MR225955L2V
- MR225955L3V
- MR225955L4V
- RC208665L1V
- RC208665L2V
- RC208665L3V
- RC208665L4V
- RR210542L3V
- RR210542L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TFAP2C
- Addgene plasmids for TFAP2C
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TFAP2C
Cell Lines for research
- ESI BIO PureStem 7PEND24, NCr-fac & Meso-prx Progenitor and PureStem SM30, NCr-fac & Meso-latp Progenitor for TFAP2C
-
Horizon Cell Lines 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
- Nucleus.
| 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 |
- Nucleoplasm (3)
| 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 | -- |
Pathways & Interactions for TFAP2C Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors | ||
| 2 | SUMOylation |
.95
|
|
| 3 | Gene Expression |
.48
|
|
| 4 | Metabolism of proteins | ||
| 5 | Apoptosis and Autophagy | ||
Pathways by source for TFAP2C Gene
1 BioSystems pathway for TFAP2C Gene
2 Cell Signaling Technology pathways for TFAP2C Gene
Interacting Proteins for TFAP2C Gene
Selected Interacting proteins:
Q92754-AP2C_HUMAN
ENSP00000201031
for TFAP2C Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TFAP2C
| 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 |
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 :
-
- ENST00000201031 2862 nts (view in UCSC)
- ENST00000416606 482 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TFAP2C - Starting at $85 >
- * TFAP2C CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TFAP2C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TFAP2C
-
Santa Cruz Biotechnology (SCBT) CRISPR for TFAP2C
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TFAP2C
- Browse OriGene Inhibitory RNA Products For TFAP2C
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFAP2C
Clone products for research
- Applied Biological Materials (abm): Clones for TFAP2C - Starting at $45 >
- * TFAP2C as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG207174
- MG225955
- MR207174
- MR207174L3
- MR207174L4
- MR225955
- MR225955L1
- MR225955L2
- MR225955L3
- MR225955L4
- RC208665
- RC208665L1
- RC208665L2
- RC208665L3
- RC208665L4
- RG208665
- RR210542
- RR210542L3
- RR210542L4
- MR207174L3V
- MR207174L4V
- MR225955L1V
- MR225955L2V
- MR225955L3V
- MR225955L4V
- RC208665L1V
- RC208665L2V
- RC208665L3V
- RC208665L4V
- RR210542L3V
- RR210542L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TFAP2C
- Addgene plasmids for TFAP2C
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TFAP2C
Relevant External Links for TFAP2C Gene
- GeneLoc Exon Structure for
- TFAP2C
Expression for TFAP2C Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- nGnG Amacrine Cells Inner Nuclear Layer
- GABAergic Amacrine Cells Inner Nuclear Layer
- Late Immature Amacrine Cells Inner Nuclear Layer
- Early Immature Amacrine Cells Inner Nuclear Layer
-
Neurons
- nGnG Amacrine Cells Inner Nuclear Layer
- GABAergic Amacrine Cells Inner Nuclear Layer
- Late Immature Amacrine Cells Inner Nuclear Layer
- Early Immature Amacrine Cells Inner Nuclear Layer
- Brain (Nervous System)
-
Limb (Muscoskeletal System)
- Apical Ectodermal Ridge Cells Limb Ectoderm
- Progress Zone Cells Limb Bud
- Limb Bud
-
Gonad (Reproductive System)
- Primordial Germ Cells Primitive Gonad
- Primordial Germ Cells Allantois
- Primordial germ cell-like cells(Hayashi K et. al. 2011)
-
Ectoderm (Gastrulation Derivatives)
- Apical Ectodermal Ridge Cells Limb Ectoderm
-
Trophoblast (Extraembryonic Tissues)
- Trophoblast Cells Trophoblast
-
Bone (Muscoskeletal System)
- Progress Zone Cells Limb Bud
-
Cartilage (Muscoskeletal System)
- Progress Zone Cells Limb Bud
-
Hair (Integumentary System)
- Primary Hair Placode Cells Hair Follicle
-
Epithelial Cells
- Primary Hair Placode Cells Hair Follicle
-
Placenta (Extraembryonic Tissues)
- Primordial Germ Cells Allantois
- Kidney (Urinary System)
- Lateral Plate Mesoderm (Gastrulation Derivatives)
- Neural Crest (Gastrulation Derivatives)
- Germ Cells (Reproductive System)
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).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TFAP2C
SOURCE GeneReport for Unigene cluster for TFAP2C Gene:
Hs.473152Evidence on tissue expression from TISSUES for TFAP2C Gene
- Skin(4.5)
- Liver(4.3)
- Nervous system(2.8)
- Kidney(2.3)
Primer products for research
-
OriGene qPCR primer pairs for TFAP2C
-
OriGene qPCR primer pairs and template standards for TFAP2C
Gene Expression Assays 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TFAP2C 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TFAP2C 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TFAP2C 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Tfap2c 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tfap2c 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TFAP2C 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TFAP2C 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TFAP2C 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TFAP2C 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tfap2c 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68493 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tfap2c 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | AP-2 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | K06A1.1 32 |
|
|
|
| aptf-1 31 |
|
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
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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| extragonadal seminoma |
|
|
| char syndrome |
|
|
| exencephaly |
|
|
| breast cancer |
|
|
| branchiooculofacial syndrome |
|
|
Search TFAP2C in MalaCards
View complete list of genes associated with diseases
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
No data available for UniProtKB/Swiss-Prot and Genatlas for TFAP2C Gene
Publications for TFAP2C Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
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- transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) [25-141]
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Sources for TFAP2C Gene
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