Gene Gene information from NCBI Gene database.
Entrez ID 7022
Gene name Transcription factor AP-2 gamma
Gene symbol TFAP2C
Synonyms (NCBI Gene)
AP2-GAMMAERF1TFAP2GhAP-2g
Chromosome 20
Chromosome location 20q13.31
Summary 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 d
miRNA miRNA information provided by mirtarbase database.
628
miRTarBase ID miRNA Experiments Reference
MIRT006367 hsa-miR-10b-5p Luciferase reporter assayWestern blot 21471404
MIRT006384 hsa-miR-29c-3p Luciferase reporter assay 21436257
MIRT006367 hsa-miR-10b-5p Luciferase reporter assayWestern blot 21471404
MIRT006384 hsa-miR-29c-3p Luciferase reporter assay 21436257
MIRT006367 hsa-miR-10b-5p Luciferase reporter assayWestern blot 21471404
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 24413532
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601602 11744 ENSG00000087510
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92754
Protein name Transcription factor AP-2 gamma (AP2-gamma) (Activating enhancer-binding protein 2 gamma) (Transcription factor ERF-1)
Protein function Sequence-specific DNA-binding transcription factor that interacts with cellular enhancer elements to regulate transcription of selected genes, and which plays a key role in early embryonic development (PubMed:11694877, PubMed:24413532). AP-2 fac
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03299 TF_AP-2 224 419 Transcription factor AP-2 Family
Sequence
MLWKITDNVKYEEDCEDRHDGSSNGNPRVPHLSSAGQHLYSPAPPLSHTGVAEYQPPPYF
PPPYQQLAYSQSADPYSHLGEAYAAAINPLHQPAPTGSQQQAWPGRQSQEGAGLPSHHGR
PAGLLPHLSGLEAGAVSARRDAYRRSDLLLPHAHALDAAGLAENLGLHDMPHQMDEVQNV
DDQHLLLHDQTVIRKGPISMTKNPLNLPCQKELVGAVMNPTEVFCSVPGRLSLLSSTSKY
KVTVAEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLREKLDKIGLNLPAGRRKAAHVT
LLTSLVEGEAVHLARDFAYVCEAEFPSKPVAEYLTRPHLGGRNEMAARKNMLLAAQQLCK
EFTELLSQDRTPHGTSRLAPVLETNIQNCLSHFSLITHGFGSQAICAAVSALQNYIKEA
L
IVIDKSYMNPGDQSPADSNKTLEKMEKHRK
Sequence length 450
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    SUMOylation of transcription factors
Negative regulation of activity of TFAP2 (AP-2) family transcription factors
TFAP2 (AP-2) family regulates transcription of other transcription factors
Activation of the TFAP2 (AP-2) family of transcription factors
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
TFAP2 (AP-2) family regulates transcription of cell cycle factors
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephaly Uncertain significance rs566491833, rs772568809 RCV001252940
RCV001252829
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 30670912
Alzheimer Disease Associate 37549144
Breast Neoplasms Associate 10497269, 11278455, 12733991, 12833450, 15467710, 18825690, 19129556, 19458056, 19798054, 19906305, 20629094, 21572391, 22371483, 22964634, 23334330
View all (11 more)
Breast Neoplasms Inhibit 16867219
Breast Neoplasms Stimulate 19671168
Carcinogenesis Associate 19671168, 20629094, 22371483, 31296259, 35563688
Carcinoma Adenoid Cystic Stimulate 12368205
Carcinoma Intraductal Noninfiltrating Associate 15467710
Carcinoma Non Small Cell Lung Associate 31296259
Diffuse Intrinsic Pontine Glioma Associate 30124166