LOCUS       NM_001372066            3143 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens transcription factor AP-2 alpha (TFAP2A), transcript
            variant 1, mRNA.
ACCESSION   NM_001372066
VERSION     NM_001372066.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3143)
  AUTHORS   Huang,G., Ouyang,M., Xiao,K., Zhou,H., Zhong,Z., Long,S., Li,Z.,
            Zhang,Y., Li,L., Xiang,S. and Ding,X.
  TITLE     AP-2alpha decreases TMZ resistance of recurrent GBM by
            downregulating MGMT expression and improving DNA damage
  JOURNAL   Life Sci 357, 123111 (2024)
   PUBMED   39369843
  REMARK    GeneRIF: AP-2alpha decreases TMZ resistance of recurrent GBM by
            downregulating MGMT expression and improving DNA damage.
REFERENCE   2  (bases 1 to 3143)
  AUTHORS   Zeng,T., Ren,W., Zeng,H., Wang,D., Wu,X. and Xu,G.
  TITLE     TFAP2A Activates S100A2 to Mediate Glutamine Metabolism and Promote
            Lung Adenocarcinoma Metastasis
  JOURNAL   Clin Respir J 18 (8), e13825 (2024)
   PUBMED   39187936
  REMARK    GeneRIF: TFAP2A Activates S100A2 to Mediate Glutamine Metabolism
            and Promote Lung Adenocarcinoma Metastasis.
REFERENCE   3  (bases 1 to 3143)
  AUTHORS   Fang,Y., Wang,Y., Ma,H., Guo,Y., Xu,R., Chen,X., Chen,X., Lv,Y.,
            Li,P. and Gao,Y.
  TITLE     TFAP2A downregulation mediates tumor-suppressive effect of miR-8072
            in triple-negative breast cancer via inhibiting SNAI1 transcription
  JOURNAL   Breast Cancer Res 26 (1), 103 (2024)
   PUBMED   38890750
  REMARK    GeneRIF: TFAP2A downregulation mediates tumor-suppressive effect of
            miR-8072 in triple-negative breast cancer via inhibiting SNAI1
            transcription.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3143)
  AUTHORS   Cano,I., Wild,M., Gupta,U., Chaudhary,S., Ng,Y.S.E.,
            Saint-Geniez,M., D'Amore,P.A. and Hu,Z.
  TITLE     Endomucin selectively regulates vascular endothelial growth factor
            receptor-2 endocytosis through its interaction with AP2
  JOURNAL   Cell Commun Signal 22 (1), 225 (2024)
   PUBMED   38605348
  REMARK    GeneRIF: Endomucin selectively regulates vascular endothelial
            growth factor receptor-2 endocytosis through its interaction with
            AP2.
            Erratum:[Cell Commun Signal. 2024 Jun 6;22(1):311. doi:
            10.1186/s12964-024-01696-6.. PMID: 38844932]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3143)
  AUTHORS   Lin,A.E., Haldeman-Englert,C.R. and Milunsky,J.M.
  TITLE     Branchiooculofacial Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21634087
REFERENCE   6  (bases 1 to 3143)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   7  (bases 1 to 3143)
  AUTHORS   Murphy,J.E. and Keen,J.H.
  TITLE     Recognition sites for clathrin-associated proteins AP-2 and AP-3 on
            clathrin triskelia
  JOURNAL   J Biol Chem 267 (15), 10850-10855 (1992)
   PUBMED   1587861
REFERENCE   8  (bases 1 to 3143)
  AUTHORS   Gaynor,R.B., Muchardt,C., Xia,Y.R., Klisak,I., Mohandas,T.,
            Sparkes,R.S. and Lusis,A.J.
  TITLE     Localization of the gene for the DNA-binding protein AP-2 to human
            chromosome 6p22.3-pter
  JOURNAL   Genomics 10 (4), 1100-1102 (1991)
   PUBMED   1916817
REFERENCE   9  (bases 1 to 3143)
  AUTHORS   Williams,T. and Tjian,R.
  TITLE     Characterization of a dimerization motif in AP-2 and its function
            in heterologous DNA-binding proteins
  JOURNAL   Science 251 (4997), 1067-1071 (1991)
   PUBMED   1998122
REFERENCE   10 (bases 1 to 3143)
  AUTHORS   Williams,T., Admon,A., Luscher,B. and Tjian,R.
  TITLE     Cloning and expression of AP-2, a cell-type-specific transcription
            factor that activates inducible enhancer elements
  JOURNAL   Genes Dev 2 (12A), 1557-1569 (1988)
   PUBMED   3063603
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM714893.1, X52611.1 and
            AL138885.21.
            This sequence is a reference standard in the RefSeqGene project.
            
            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].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.4428994.1,
                                           SRR14038195.2367426.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147596, SAMN02400289
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379613.10/ ENSP00000368933.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-48                BM714893.1         70-117
            49-1654             X52611.1           22-1627
            1655-3143           AL138885.21        87694-89182         c
FEATURES             Location/Qualifiers
     source          1..3143
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.3"
     gene            1..3143
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /note="transcription factor AP-2 alpha"
                     /db_xref="GeneID:7020"
                     /db_xref="HGNC:HGNC:11742"
                     /db_xref="MIM:107580"
     exon            1..134
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..1403
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /note="isoform a is encoded by transcript variant 1;
                     activator protein 2; AP-2 transcription factor; activating
                     enhancer-binding protein 2-alpha; transcription factor
                     AP-2 alpha (activating enhancer binding protein 2 alpha)"
                     /codon_start=1
                     /product="transcription factor AP-2-alpha isoform a"
                     /protein_id="NP_001358995.1"
                     /db_xref="CCDS:CCDS4510.2"
                     /db_xref="GeneID:7020"
                     /db_xref="HGNC:HGNC:11742"
                     /db_xref="MIM:107580"
                     /translation="MKMLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVGQSPYTSA
                     PPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQR
                     QSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEE
                     VPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPG
                     RLSLLSSTSKYKVTVAEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLREKLDKIGL
                     NLPAGRRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVAEFLNRQHSDPNEQV
                     TRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPA
                     VCAAVTALQNYLTEALKAMDKMYLSNNPNSHTDNNAKSSDKEEKHRK"
     exon            135..569
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            570..621
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            622..853
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            854..972
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1114
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1115..3143
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1943..1948
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /note="hexamer: AATAAA"
     polyA_site      1968
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /note="major polyA site"
     regulatory      2754..2759
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /note="hexamer: AATAAA"
     polyA_site      2775
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /note="major polyA site"
     regulatory      2933..2938
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /note="hexamer: AATAAA"
     polyA_site      2957
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
     regulatory      3117..3122
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
                     /note="hexamer: AATAAA"
     polyA_site      3143
                     /gene="TFAP2A"
                     /gene_synonym="AP-2; AP-2alpha; AP2TF; BOFS; TFAP2"
ORIGIN      
        1 ggcagccagc actttgcgct cacccagaga gtagctccac ttgggtgcga gaccgagagg
       61 ggcatatccg ttcacgccga tccatgaaaa tgctttggaa attgacggat aatatcaagt
      121 acgaggactg cgaggaccgt cacgacggca ccagcaacgg gacggcacgg ttgccccagc
      181 tgggcactgt aggtcaatct ccctacacga gcgccccgcc gctgtcccac acccccaatg
      241 ccgacttcca gcccccatac ttccccccac cctaccagcc tatctacccc cagtcgcaag
      301 atccttactc ccacgtcaac gacccctaca gcctgaaccc cctgcacgcc cagccgcagc
      361 cgcagcaccc aggctggccc ggccagaggc agagccagga gtctgggctc ctgcacacgc
      421 accgggggct gcctcaccag ctgtcgggcc tggatcctcg cagggactac aggcggcacg
      481 aggacctcct gcacggccca cacgcgctca gctcaggact cggagacctc tcgatccact
      541 ccttacctca cgccatcgag gaggtcccgc atgtagaaga cccgggtatt aacatcccag
      601 atcaaactgt aattaagaaa ggccccgtgt ccctgtccaa gtccaacagc aatgccgtct
      661 ccgccatccc tattaacaag gacaacctct tcggcggcgt ggtgaacccc aacgaagtct
      721 tctgttcagt tccgggtcgc ctctcgctcc tcagctccac ctcgaagtac aaggtcacgg
      781 tggcggaagt gcagcggcgg ctctcaccac ccgagtgtct caacgcgtcg ctgctgggcg
      841 gagtgctccg gagggcgaag tctaaaaatg gaggaagatc tttaagagaa aaactggaca
      901 aaataggatt aaatctgcct gcagggagac gtaaagctgc caacgttacc ctgctcacat
      961 cactagtaga gggagaagct gtccacctag ccagggactt tgggtacgtg tgcgaaaccg
     1021 aatttcctgc caaagcagta gctgaatttc tcaaccgaca acattccgat cccaatgagc
     1081 aagtgacaag aaaaaacatg ctcctggcta caaaacagat atgcaaagag ttcaccgacc
     1141 tgctggctca ggaccgatct cccctgggga actcacggcc caaccccatc ctggagcccg
     1201 gcatccagag ctgcttgacc cacttcaacc tcatctccca cggcttcggc agccccgcgg
     1261 tgtgtgccgc ggtcacggcc ctgcagaact atctcaccga ggccctcaag gccatggaca
     1321 aaatgtacct cagcaacaac cccaacagcc acacggacaa caacgccaaa agcagtgaca
     1381 aagaggagaa gcacagaaag tgaggctctc ctcccgcccc gcccctccca cgcctcacca
     1441 gccccccgcg cgcccaccct ccggcgggtg acagctccgg gatcagcaac ccttcctgct
     1501 gctgctactg ctgctgctgc tgccgccgcc gccgccgccg ctgcccttgg gtccccccga
     1561 gtctccggga ctgccctctc gactgtcagt ggggcagcct ctccgactct gcacccgcct
     1621 cgacctcccc acccgctccc acacccctgt gccctcatgt ggagcctaag agaacagaac
     1681 aggccgtgaa gccagcagag aaaagttctg ccaagtttgt gaaccctttt ttttttaaac
     1741 aaaacaacaa atcaacaaca gcaacaacaa caacaaaaat taaaaacttt tttctaaaaa
     1801 aaaagtgaaa ataaaaaaaa ttatatgcgc ttcatgggac tgagtcacca ccttccctta
     1861 catacttcag ttcagattgt agccatactt aaaaaaaaaa aaaaagccaa aagatgatga
     1921 caacattttt atcagtattg tgaataaact tgaacacaaa tacacgaagt tccatgtcat
     1981 gtcttcagtt gtagaagttt ttcctcttta aggtaaagcg accaacttga actttctctg
     2041 gcaacacgat tcgcagttat ataagggaat cagtgttcac gtctctgtat atatttattt
     2101 atgtgtaatt taatgggaat tgtaaatatg gtgagtctgt tttaagcctt ttttttttta
     2161 tttatctgat cttgtttacc tcttgtttag tgggttttga atcttcccta ttagttcttc
     2221 atgtggttca tggtactgat ttagaaatcc agtgtttggg ggattttttt ctctgggatt
     2281 catgaattta gccctgttgt agcatgttaa aggtgacaaa cagctggaca aatttttaaa
     2341 aagtaaaata aaattttatc tataattagt attattacat ttagcttttc attgaaccga
     2401 aagaaaaaaa gtgatattgg accctggaaa gattttgaaa cttgagtggt ttgataaccc
     2461 ttctatgtat tgtagggaga aaaaaaaaag tttattttat tccactgtcc tcccttaaaa
     2521 gcatcatttg agcaataaat gaatattgtc tttaaaccaa gggttaggga attttcctct
     2581 ctctctctct ctcctctctc tttctgttca aagaacttca aacatttggg accacctggt
     2641 attctgtatt ttcactggcc atattggaag cagttctagt tgcattgtat tgagttgtgc
     2701 tggcagtagt ttccatgcct gtcaatgtat catagtcctt tgttgcccag ataaataaat
     2761 atttgatacg ctttatgtcg attttttttt attcagtggc tgtctttacc caggcgtatt
     2821 tttgttcttg gcagtatttt ttattcagta tggttacagt aattgagttt aactctccct
     2881 tggcaattgc tccttgcaat aagcagctga acccattgtt tccctcaagt ataataaaaa
     2941 cttactttca acttggagtt cagagcaggg tatcatttag atattccact gtgtctgtat
     3001 tcagacaaat gacacaataa aacccaatgt attcttttgg ataaaagatt gtttgtactg
     3061 ctaaaggaat gacatactgt cttttcctta ctagaaacat taattttatt attaaaaata
     3121 aagttttatt ttatttatgt tga
//
