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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Microcephaly Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28610956
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 12368205
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37549144 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29615098
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 12368205
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 31772149
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15623634, 15843208, 17875680, 20629094, 22964634, 23764310, 24413532, 24469049, 25772240, 26160249, 26832794, 29035388, 29760237, 31215771, 31619506
View all (5 more)
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 10497269, 11278455, 12733991, 12833450, 15467710, 18825690, 19129556, 19458056, 19798054, 19906305, 20629094, 21572391, 22371483, 22964634, 23334330
View all (11 more)
Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 16867219 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19671168 Stimulate
★☆☆☆☆
Found in Text Mining only