Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.
| RefSeq Version | NM_003220.2, 109389359 |
| Length | 3300 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA. |
| Product | transcription factor AP-2-alpha isoform a |
| Comment | Summary: The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene. Transcript Variant: This variant (1) encodes the longest isoform (a). CCDS Note: A downstream start codon is used for this CCDS representation based on sequencing of the purified protein in PMID:3063603, which shows that the second in-frame start codon is used. An upstream start codon exists and would result in a protein that is 2 aa longer at the N-terminus, but there is currently no evidence for this longer protein. |
| RefSeq | NP_003211.1 |
| CDS | 253..1566 | Exon (1) | 1..297 | Exon (2) | 1..297 | Exon (3) | 298..732 | Exon (4) | 733..784 | Exon (5) | 785..1016 | Exon (6) | 1017..1135 | Exon (7) | 1136..1277 | Exon (8) | 1278..3300 |
| Translation | MLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPP
PYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSG
LDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPV
SLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSP
PECLNASLLGGVLRRAKSKNGGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHL
ARDFGYVCETEFPAKAVAEFLNRQHSDPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLG
NSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEALKAMDKMYLSNNPNS
HTDNNAKSSDKEEKHRK
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| Position | Chain | Variation | Link |
| complement(110) | - | g, a | dbSNP:34658766 |
| 164 | + | c, g | dbSNP:1800927 |
| 211 | + | a, c | dbSNP:1139846 |
| complement(233) | - | g, c | dbSNP:76066093 |
| complement(349) | - | t, c | dbSNP:9368354 |
| complement(412..413) | - | , t | dbSNP:34436436 |
| complement(671) | - | g, a | dbSNP:111353850 |
| complement(743) | - | t, c | dbSNP:111681798 |
| 1015 | + | a, g | dbSNP:121909574 |
| 1037 | + | a, g | dbSNP:121909575 |
| complement(1072) | - | g, a | dbSNP:35008125 |
| 1215 | + | c, t | dbSNP:1803117 |
| complement(1318) | - | g, c | dbSNP:9350373 |
| 1440 | + | g, t | dbSNP:2230116 |
| 1509 | + | c, t | dbSNP:3734391 |
| 1529 | + | c, t | dbSNP:1803116 |
| complement(1654) | - | t, g | dbSNP:10456013 |
| 1705 | + | c, t | dbSNP:1461010 |
| complement(1863) | - | t, c | dbSNP:118042860 |
| complement(1889..1890) | - | , a | dbSNP:34512481 |
| complement(1899..1900) | - | , a | dbSNP:111823522 |
| complement(1903) | - | t, g | dbSNP:2763172 |
| complement(1908) | - | t, g | dbSNP:117047837 |
| complement(1919) | - | t, g | dbSNP:118112003 |
| complement(1925..1927) | - | , ttg | dbSNP:34426547 |
| complement(1951) | - | g, a | dbSNP:9350372 |
| 2100 | + | a, c | dbSNP:1045385 |
| complement(2244) | - | t, c | dbSNP:75419063 |
| complement(2310) | - | g, a | dbSNP:114951118 |
| complement(2311..2312) | - | , a | dbSNP:61569279 |
| complement(2312) | - | g, a | dbSNP:74636495 |
| complement(2320..2321) | - | , aa | dbSNP:71814153 |
| complement(2321..2322) | - | , a | dbSNP:71781673 |
| complement(2322..2323) | - | , a | dbSNP:113670129 |
| complement(2322) | - | t, a | dbSNP:78186274 |
| complement(2323) | - | t, a | dbSNP:72836951 |
| complement(2417) | - | c, a | dbSNP:3088288 |
| complement(2421) | - | c, a | dbSNP:2763171 |
| complement(2446) | - | c, a | dbSNP:115631304 |
| complement(2491) | - | t, c | dbSNP:2763170 |
| complement(2510) | - | t, c | dbSNP:113256477 |
| 2654 | + | g, t | dbSNP:2857059 |
| 2656 | + | a, t | dbSNP:2857060 |
| complement(2675) | - | g, a | dbSNP:11553434 |
| complement(2725) | - | t, c | dbSNP:80094467 |
| complement(2793) | - | t, c | dbSNP:2763169 |
| complement(2945) | - | , a | dbSNP:79168174 |
| complement(2971) | - | t, a | dbSNP:116829401 |
| complement(3089) | - | t, g | dbSNP:2763168 |
| 3090 | + | a, c | dbSNP:2857061 |
| complement(3190) | - | t, c | dbSNP:16893358 |
| Gene Symbol | TFAP2A |
| Gene Synonym | AP-2; AP-2alpha; AP2TF; BOFS; FLJ51761; TFAP2 |
| Chromosome | 6 |
| Locus Map | 6p24 |
| All Transcripts | NM_003220 , NM_001032280 , NM_001042425 |
| Title | Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene . |
| Author | Thomeer,H.G., Crins,T.T., Kamsteeg,E.J., Buijsman,W., Cruysberg,J.R., Knoers,N.V. and Cremers,C.W. |
| Journal | Ann. Otol. Rhinol. Laryngol. 119 (12), 806-814 (2010) |
| Title | Dual association by TFAP2A during activation of the p21cip/CDKN1A promoter . |
| Author | Scibetta,A.G., Wong,P.P., Chan,K.V., Canosa,M. and Hurst,H.C. |
| Journal | Cell Cycle 9 (22), 4525-4532 (2010) |
| Title | Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study . |
| Author | Lu,W., Guzman,A.R., Yang,W., Chapa,C.J., Shaw,G.M., Greene,R.M., Pisano,M.M., Lammer,E.J., Finnell,R.H. and Zhu,H. |
| Journal | BMC Med. Genet. 11, 141 (2010) |
| Title | Expression of human frataxin is regulated by transcription factors . |
| Author | Li,K., Singh,A., Crooks,D.R., Dai,X., Cong,Z., Pan,L., Ha,D. and Rouault,T.A. |
| Journal | PLoS ONE 5 (8), E12286 (2010) |
| Title | CREB inhibits AP-2alpha expression to regulate the malignant phenotype of melanoma . |
| Author | Melnikova,V.O., Dobroff,A.S., Zigler,M., Villares,G.J., Braeuer,R.R., Wang,H., Huang,L. and Bar-Eli,M. |
| Journal | PLoS ONE 5 (8), E12452 (2010) |
| Title | Recognition sites for clathrin-associated proteins AP-2 and AP-3 on clathrin triskelia . |
| Author | Murphy,J.E. and Keen,J.H. |
| Journal | J. Biol. Chem. 267 (15), 10850-10855 (1992) |
| Title | Localization of the gene for the DNA-binding protein AP-2 to human chromosome 6p22.3-pter . |
| Author | Gaynor,R.B., Muchardt,C., Xia,Y.R., Klisak,I., Mohandas,T., Sparkes,R.S. and Lusis,A.J. |
| Journal | Genomics 10 (4), 1100-1102 (1991) |
| Title | Analysis of the DNA-binding and activation properties of the human transcription factor AP-2 . |
| Author | Williams,T. and Tjian,R. |
| Journal | Genes Dev. 5 (4), 670-682 (1991) |
| Title | Characterization of a dimerization motif in AP-2 and its function in heterologous DNA-binding proteins . |
| Author | Williams,T. and Tjian,R. |
| Journal | Science 251 (4997), 1067-1071 (1991) |
| Title | Cloning and expression of AP-2, a cell-type-specific transcription factor that activates inducible enhancer elements . |
| Author | Williams,T., Admon,A., Luscher,B. and Tjian,R. |
| Journal | Genes Dev. 2 (12A), 1557-1569 (1988) |
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