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Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_003220 Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA. ORF Sequence $381.06
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RefSeq Version NM_003220.2, 109389359
Length 3300 bp
Structure linear
Update Date 29-APR-2013
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.[provided by RefSeq, Dec 2009].


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
Misc Feature(1)307..309
Misc Feature(2)307..309
Misc Feature(3)307..309
Misc Feature(4)307..309
Misc Feature(5)421..438
Misc Feature(6)877..1494
Misc Feature(7)967..969
Misc Feature(8)1090..1482
Exon (1)1..297
Gene:TFAP2A
Gene Synonym:AP-2; AP-2alpha; AP2TF; BOFS; TFAP2
Exon (2)298..732
Gene:TFAP2A
Gene Synonym:AP-2; AP-2alpha; AP2TF; BOFS; TFAP2
Exon (3)733..784
Gene:TFAP2A
Gene Synonym:AP-2; AP-2alpha; AP2TF; BOFS; TFAP2
Exon (4)785..1016
Gene:TFAP2A
Gene Synonym:AP-2; AP-2alpha; AP2TF; BOFS; TFAP2
Exon (5)1017..1135
Gene:TFAP2A
Gene Synonym:AP-2; AP-2alpha; AP2TF; BOFS; TFAP2
Exon (6)1136..1277
Gene:TFAP2A
Gene Synonym:AP-2; AP-2alpha; AP2TF; BOFS; TFAP2
Exon (7)1278..3300
Gene:TFAP2A
Gene Synonym:AP-2; AP-2alpha; AP2TF; BOFS; TFAP2
Translation MLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPP PYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSG LDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPV SLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSP PECLNASLLGGVLRRAKSKNGGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHL ARDFGYVCETEFPAKAVAEFLNRQHSDPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLG NSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEALKAMDKMYLSNNPNS HTDNNAKSSDKEEKHRK
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Position Chain Variation Link
complement(110)-dbSNP:
complement(110)-g, adbSNP:34658766
complement(164)-g, cdbSNP:1800927
complement(211)-c, adbSNP:1139846
complement(233)-g, cdbSNP:76066093
complement(311)-dbSNP:
complement(311)-c, adbSNP:143258135
complement(349)-t, cdbSNP:9368354
complement(387)-t, cdbSNP:149126243
complement(412..413)-, tdbSNP:34436436
complement(503)-g, adbSNP:200131527
complement(588)-t, cdbSNP:138225261
complement(624)-t, gdbSNP:145673154
complement(630)-g, cdbSNP:200574824
complement(671)-g, adbSNP:111353850
complement(743)-dbSNP:
complement(743)-t, cdbSNP:111681798
complement(797)-dbSNP:
complement(797)-g, adbSNP:140353237
complement(800)-t, gdbSNP:146735451
complement(808)-t, cdbSNP:201296512
complement(825)-g, adbSNP:143363077
complement(875)-t, cdbSNP:202002859
complement(961)-g, cdbSNP:151344524
962+a, c, gdbSNP:151344525
complement(975)-t, g, cdbSNP:140905560
complement(976)-g, adbSNP:151344526
complement(978)-t, cdbSNP:151009833
complement(1004)-g, adbSNP:151344527
complement(1011)-g, cdbSNP:142511319
complement(1012)-t, g, cdbSNP:151344528
complement(1013)-g, cdbSNP:151344530
complement(1015)-g, adbSNP:121909574
complement(1019)-dbSNP:
complement(1019)-t, cdbSNP:151344531
complement(1037)-g, adbSNP:121909575
complement(1072)-g, adbSNP:35008125
1138+dbSNP:
1138+a, gdbSNP:267607108
complement(1170)-g, adbSNP:141711078
complement(1184)-t, gdbSNP:144275164
complement(1215)-t, cdbSNP:1803117
complement(1299)-g, adbSNP:140377026
complement(1318)-g, cdbSNP:9350373
complement(1431)-g, cdbSNP:181105841
complement(1440)-t, gdbSNP:2230116
complement(1458)-g, cdbSNP:200847258
complement(1461)-g, adbSNP:201494266
complement(1508)-t, gdbSNP:201591227
complement(1509)-t, cdbSNP:3734391
complement(1529)-t, cdbSNP:1803116
complement(1654)-t, gdbSNP:10456013
complement(1693)-g, cdbSNP:188674648
complement(1705)-t, cdbSNP:1461010
complement(1863)-t, cdbSNP:118042860
complement(1898..1899)-, adbSNP:34512481
complement(1899..1900)-, adbSNP:111823522
complement(1903)-t, gdbSNP:2763172
complement(1908)-c, adbSNP:201528167
complement(1937..1939)-, ttgdbSNP:34426547
complement(1951)-g, adbSNP:9350372
complement(2025)-t, cdbSNP:151315569
complement(2079)-t, cdbSNP:146797011
complement(2100)-c, adbSNP:1045385
complement(2179)-t, gdbSNP:184322632
complement(2216)-t, cdbSNP:201450721
complement(2244)-t, cdbSNP:75419063
complement(2294)-t, cdbSNP:181681871
complement(2305)-c, adbSNP:147713410
complement(2310)-t, cdbSNP:201819112
complement(2312)-g, adbSNP:74636495
complement(2321..2322)-, a, aadbSNP:61569279
complement(2322)-t, adbSNP:78186274
complement(2325..2326)-, adbSNP:113670129
complement(2417)-c, adbSNP:3088288
complement(2421)-c, adbSNP:2763171
complement(2446)-c, adbSNP:115631304
complement(2491)-t, cdbSNP:2763170
complement(2510)-t, cdbSNP:113256477
complement(2521)-t, cdbSNP:185414193
complement(2654)-t, gdbSNP:2857059
complement(2656)-t, adbSNP:2857060
complement(2675)-g, adbSNP:11553434
complement(2725)-t, cdbSNP:80094467
complement(2739..2740)-, agdbSNP:201034456
complement(2740)-g, adbSNP:193259940
complement(2755..2756)-, gadbSNP:150236619
complement(2793)-t, cdbSNP:2763169
complement(2880)-c, adbSNP:186469860
complement(2953)-, adbSNP:79168174
complement(3089)-t, gdbSNP:2763168
complement(3090)-c, adbSNP:2857061
complement(3190)-t, cdbSNP:16893358
Gene SymbolTFAP2A
Gene SynonymAP-2; AP-2alpha; AP2TF; BOFS; TFAP2
Chromosome6
Locus Map6p24
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001032280 Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 2, mRNA. Full Length $1332.80
ORF Sequence $375.84
NM_001042425 Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 3, mRNA. Full Length $1102.50
ORF Sequence $377.58
NM_003220 Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA. Full Length $1155.00
ORF Sequence $381.06
Title Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2 .
Author Zarelli,V.E. and Dawid,I.B.
Journal Proc. Natl. Acad. Sci. U.S.A. 110 (8), 2870-2875 (2013)
Title Abnormal expression of transcription factor activator protein-2alpha in pathologic placentas .
Author Sheridan,R.M., Stanek,J., Khoury,J. and Handwerger,S.
Journal Hum. Pathol. 43 (11), 1866-1874 (2012)
Title A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene .
Author Dumitrescu,A.V., Milunsky,J.M., Longmuir,S.Q. and Drack,A.V.
Journal Ophthalmic Genet. 33 (2), 100-106 (2012)
Title Distinct and separable activities of the endocytic clathrin-coat components Fcho1/2 and AP-2 in developmental patterning .
Author Umasankar,P.K., Sanker,S., Thieman,J.R., Chakraborty,S., Wendland,B., Tsang,M. and Traub,L.M.
Journal Nat. Cell Biol. 14 (5), 488-501 (2012)
Title Identification of transcription factors regulating CTNNAL1 expression in human bronchial epithelial cells .
Author Xiang,Y., Qin,X.Q., Liu,H.J., Tan,Y.R., Liu,C. and Liu,C.X.
Journal PLoS ONE 7 (2), E31158 (2012)
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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