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Protein-coding gene in the species Homo sapiens
enhancer binding Protein 2 alpha), also known as TFAP2A, is a protein that in humans is encoded by the TFAP2A gene. Transcription factor AP-2 alpha is a 52-kD
TFAP2A
Medical condition
Branchio-oculo-facial syndrome (BOFS) is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect a child's
Branchio-oculo-facial syndrome
Branchio-oculo-facial_syndrome
Mammalian protein found in humans
needed] RPA1, RPL11, S100B, SUMO1, SMARCA4, SMARCB1, SMN1, STAT3, TBP, TFAP2A, TFDP1, TIGAR, TOP1, TOP2A, TP53BP1, TP53BP2, TOP2B, TP53INP1, TSG101, UBE2A
P53
Birth defect of the eye
SIX3 SIX6 SMOC1 SNX3 SOX2 SRD5A3 STRA6 TBC1D20 TBC1D32 TBX22 TCOF1 TENM3 TFAP2A TMEM98 TMEM67 TMX3 VAX1 VSX2 YAP1 ZEB2 ZIC2 SOX2 has been implicated in
Microphthalmia
specific TF according to literature or domain structure – No motif [934] TFAP2A ENSG00000137203 AP-2 Known motif – High-throughput in vitro [935] HSCCYBVRGGCD
List of human transcription factors
List_of_human_transcription_factors
Birth defect of the palate and upper lip
Fakhouri WD, Lei Y, Kinoshita A, Roushangar RR, et al. (May 2019). "The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation". Human Molecular
Cleft_lip_and_cleft_palate
Protein found in humans
(cadherin-associated protein), alpha 1, DLG3, KIFAP3, MAPRE2, JUP, SIAH1, TFAP2A, TUBA4A and XPO1. MUTYH GRCm38: Ensembl release 89: ENSMUSG00000005871 –
Adenomatous_polyposis_coli
Family of regulator genes
RuvB-like 1 SAP130 SMAD2 SMAD3 SMARCA4 SMARCB1 SUPT3H TIAM1 TADA2L TAF9 TFAP2A TRRAP WDR5 YY1 and ZBTB17. C2orf16 Myc-tag C-myc mRNA "Myc". NCBI. Finver
Myc
Genetic disease resulting in abnormal formation or function of cilia
syndrome 109400 PTCH1, PTCH2, SUFU Branchio‐oculo‐facial syndrome 113620 TFAP2A C syndrome (Opitz trigonocephaly) 211750 CD96 Carpenter syndrome 201000
Ciliopathy
Gene profile for C10orf88 (aka PAAT)
gene's expression profile. Key factors include NRF1, NR2C2, ELK4, ETV4, TFAP2A, and IRF3. PAAT functions as a novel ATPase, catalyzing ATP hydrolysis to
PAAT_(protein)
predicted to bind the promoter of KLHL36 include ZNF667, ZNF530, ZIC4, SNF257, TFAP2A, TFAP2C, ZTBT24, KLF10, KLF12, SREBF1, KLF5, ZVED4, and NFYB. Figure 4 consists
KLHL36
Developmental disorder involving the eye
syndrome (BPES) SMCHD1 AD Bosma arhinia microphthalmia syndrome (BAMS) TFAP2A AD Branchio-oculo-facial syndrome (BOFS), hemangiomatous branchial clefts-lip
Syndromic_microphthalmia
Protein-coding gene in the species Homo sapiens
RORA, RELA, SMAD1, SMAD2, SMAD7, SNIP1, SS18, STAT3, STAT6, TAL1, TCF3, TFAP2A, TGS1, TRERF1, TSG101, THRA, TWIST1, YY1, and Zif268. GRCh38: Ensembl release
EP300
Protein-coding gene in the species Homo sapiens
isoform 1 promoter contains 300 transcription factor binding sites, only TFAP2A is conserved among mammals. C6orf118 expression is expressed ubiquitously
C6orf118
Developmental protein
microarray analysis of Smad2/3 binding sites reveals roles of ETS1 and TFAP2A in transforming growth factor beta signaling". Molecular and Cellular Biology
Dishevelled binding antagonist of beta catenin 1
Dishevelled_binding_antagonist_of_beta_catenin_1
NIH-supported American dentistry initiative
SUMO1 (Small ubiquitin-related modifier 1), TBX22, TCOF (Treacle protein), TFAP2A, VAX1, TP63, ARHGAP29, NOG, NTN1, WNT genes, and locus 8q24. A key part
FaceBase
Protein-coding gene in the species Homo sapiens
in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway". Cell. 155 (5): 1022–1033. doi:10.1016/j.cell.2013.10.022. PMC 3873608
IRF4
Protein-coding gene in the species Homo sapiens
this protein are all associated with various diseases. DEK interacts with TFAP2A. GRCh38: Ensembl release 89: ENSG00000124795 – Ensembl, May 2017 GRCm38:
DEK_(gene)
Protein-coding gene in the species Homo sapiens
RM, Feng W, Phang T, Fish JL, Li H, Spritz RA, et al. (January 2015). "Tfap2a-dependent changes in mouse facial morphology result in clefting that can
Fibroblast_growth_factor_8
Protein-coding gene in humans
by the CITED2 gene. CITED2 has been shown to interact with EP300, LHX2, TFAP2A, and WT1. GRCh38: Ensembl release 89: ENSG00000164442 – Ensembl, May 2017
CITED2
Q9Y6I9 16584 TF HGNC:11740; P02787 16585 TFAM HGNC:11741; Q00059 16586 TFAP2A HGNC:11742; P05549 16587 TFAP2B HGNC:11743; Q92481 16588 TFAP2C HGNC:11744;
List of human protein-coding genes 8
List_of_human_protein-coding_genes_8
disease with hemorrhage; 607595; COL4A1 Branchiooculofacial syndrome; 113620; TFAP2A Branchiootorenal syndrome 2; 610896; SIX5 Branchiootorenal syndrome with
List_of_OMIM_disorder_codes
Protein and coding gene in humans
537 + PLAG1\ 235 512 - THAP1\ 376 510 + TFAP2C\ 59 494 + KLF10\ 376 493 - TFAP2A\ 53 489 - ZNF707\ 60 469 + ZNF816\ 376 465 + TFAP2B\ 477 463 - ZNF460\ 132
TMEM61
Family of transcription factors
alpha (activating enhancer binding protein 2 alpha) Identifiers Symbol TFAP2A Alt. symbols TFAP2, AP2TF NCBI gene 7020 HGNC 11742 OMIM 107580 RefSeq NM_003220
Activating_protein_2
TFAP2A
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TFAP2A
TFAP2A
TFAP2A
TFAP2A
TFAP2A