LOCUS       NM_178548               2245 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens transcription factor AP-2 epsilon (TFAP2E), mRNA.
ACCESSION   NM_178548
VERSION     NM_178548.4
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 2245)
  AUTHORS   Staebler,S., Rottensteiner-Brandl,U., El Ahmad,Z.,
            Kappelmann-Fenzl,M., Arkudas,A., Kengelbach-Weigand,A.,
            Bosserhoff,A.K. and Schmidt,S.K.
  TITLE     Transcription factor activating enhancer-binding protein 2epsilon
            (AP2epsilon) modulates phenotypic plasticity and progression of
            malignant melanoma
  JOURNAL   Cell Death Dis 15 (5), 351 (2024)
   PUBMED   38773108
  REMARK    GeneRIF: Transcription factor activating enhancer-binding protein
            2epsilon (AP2epsilon) modulates phenotypic plasticity and
            progression of malignant melanoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2245)
  AUTHORS   Jingyue,S., Xiao,W., Juanmin,Z., Wei,L., Daoming,L. and Hong,X.
  TITLE     TFAP2E methylation promotes 5-fluorouracil resistance via exosomal
            miR-106a-5p and miR-421 in gastric cancer MGC-803 cells
  JOURNAL   Mol Med Rep 20 (1), 323-331 (2019)
   PUBMED   31115533
  REMARK    GeneRIF: In the present study, it was demonstrated that
            hypermethylation of TFAP2E resulted in its reduced expression and
            5FU chemoresistance in gastric cancer (GC) cells. miRNAs miR106a5p
            and miR421 were highly expressed and regulated the chemoresistance
            induced by TFAP2E methylation.
REFERENCE   3  (bases 1 to 2245)
  AUTHORS   Murcia,O., Jover,R., Egoavil,C., Perez-Carbonell,L., Juarez,M.,
            Hernandez-Illan,E., Rojas,E., Alenda,C., Balaguer,F., Andreu,M.,
            Llor,X., Castells,A., Boland,C.R. and Goel,A.
  TITLE     TFAP2E Methylation and Expression Status Does Not Predict Response
            to 5-FU-based Chemotherapy in Colorectal Cancer
  JOURNAL   Clin Cancer Res 24 (12), 2820-2827 (2018)
   PUBMED   29535127
  REMARK    GeneRIF: TFAP2E methylation and expression may not play a major
            role in predicting response to 5-FU-based chemotherapy in patients
            with colorectal cancer.
REFERENCE   4  (bases 1 to 2245)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   5  (bases 1 to 2245)
  AUTHORS   Hoshi,R., Watanabe,Y., Ishizuka,Y., Hirano,T., Nagasaki-Maeoka,E.,
            Yoshizawa,S., Uekusa,S., Kawashima,H., Ohashi,K., Sugito,K.,
            Fukuda,N., Nagase,H., Soma,M., Ozaki,T., Koshinaga,T. and
            Fujiwara,K.
  TITLE     Depletion of TFAP2E attenuates adriamycin-mediated apoptosis in
            human neuroblastoma cells
  JOURNAL   Oncol Rep 37 (4), 2459-2464 (2017)
   PUBMED   28260105
  REMARK    GeneRIF: Results showed that lower expression levels of TFAP2E are
            significantly associated with a shorter survival of patients with
            neuroblastoma indicating that TFAP2E acts as a tumor suppressor of
            neuroblastoma.
REFERENCE   6  (bases 1 to 2245)
  AUTHORS   Niebler,S. and Bosserhoff,A.K.
  TITLE     The transcription factor activating enhancer-binding protein
            epsilon (AP-2epsilon) regulates the core promoter of type II
            collagen (COL2A1)
  JOURNAL   FEBS J 280 (6), 1397-1408 (2013)
   PUBMED   23331625
  REMARK    GeneRIF: AP-2epsilon indirectly interacts with the core promoter of
            COL2A1 and subsequently inhibits its transcriptional activity, thus
            modulating cartilage development.
REFERENCE   7  (bases 1 to 2245)
  AUTHORS   Ebert,M.P., Tanzer,M., Balluff,B., Burgermeister,E.,
            Kretzschmar,A.K., Hughes,D.J., Tetzner,R., Lofton-Day,C.,
            Rosenberg,R., Reinacher-Schick,A.C., Schulmann,K., Tannapfel,A.,
            Hofheinz,R., Rocken,C., Keller,G., Langer,R., Specht,K.,
            Porschen,R., Stohlmacher-Williams,J., Schuster,T., Strobel,P. and
            Schmid,R.M.
  TITLE     TFAP2E-DKK4 and chemoresistance in colorectal cancer
  JOURNAL   N Engl J Med 366 (1), 44-53 (2012)
   PUBMED   22216841
  REMARK    GeneRIF: TFAP2E hypermethylation is associated with clinical
            nonresponsiveness to chemotherapy in colorectal cancer.
REFERENCE   8  (bases 1 to 2245)
  AUTHORS   Van Otterloo,E., Li,W., Bonde,G., Day,K.M., Hsu,M.Y. and
            Cornell,R.A.
  TITLE     Differentiation of zebrafish melanophores depends on transcription
            factors AP2 alpha and AP2 epsilon
  JOURNAL   PLoS Genet 6 (9), e1001122 (2010)
   PUBMED   20862309
  REMARK    GeneRIF: These findings reveal that Tfap2 activity, mediated
            redundantly by Tfap2a and Tfap2e, promotes melanophore
            differentiation in parallel with Mitf by an effector other than
            Kit.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2245)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   10 (bases 1 to 2245)
  AUTHORS   Tummala,R., Romano,R.A., Fuchs,E. and Sinha,S.
  TITLE     Molecular cloning and characterization of AP-2 epsilon, a fifth
            member of the AP-2 family
  JOURNAL   Gene 321, 93-102 (2003)
   PUBMED   14636996
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004865.1 and AL157951.5.
            
            On Nov 22, 2018 this sequence version replaced NM_178548.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: BC041175.1, AY326454.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373235.4/ ENSP00000362332.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                AC004865.1         5982-6037           c
            57-291              AC004865.1         5747-5981           c
            292-774             AC004865.1         4942-5424           c
            775-826             AC004865.1         4351-4402           c
            827-1049            AL157951.5         20588-20810         c
            1050-1168           AL157951.5         19092-19210         c
            1169-1310           AL157951.5         18365-18506         c
            1311-2245           AL157951.5         13812-14746         c
FEATURES             Location/Qualifiers
     source          1..2245
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..2245
                     /gene="TFAP2E"
                     /gene_synonym="AP-2epsilon; AP2E"
                     /note="transcription factor AP-2 epsilon"
                     /db_xref="GeneID:339488"
                     /db_xref="HGNC:HGNC:30774"
                     /db_xref="MIM:614428"
     exon            1..291
                     /gene="TFAP2E"
                     /gene_synonym="AP-2epsilon; AP2E"
                     /inference="alignment:Splign:2.1.0"
     CDS             265..1593
                     /gene="TFAP2E"
                     /gene_synonym="AP-2epsilon; AP2E"
                     /note="adaptor-related protein complex 2, epsilon subunit;
                     AP2-epsilon; transcription factor AP-2 epsilon (activating
                     enhancer binding protein 2 epsilon); activating
                     enhancer-binding protein 2-epsilon"
                     /codon_start=1
                     /product="transcription factor AP-2-epsilon"
                     /protein_id="NP_848643.2"
                     /db_xref="CCDS:CCDS393.2"
                     /db_xref="GeneID:339488"
                     /db_xref="HGNC:HGNC:30774"
                     /db_xref="MIM:614428"
                     /translation="MLVHTYSAMERPDGLGAAAGGARLSSLPQAAYGPAPPLCHTPAA
                     TAAAEFQPPYFPPPYPQPPLPYGQAPDAAAAFPHLAGDPYGGLAPLAQPQPPQAAWAA
                     PRAAARAHEEPPGLLAPPARALGLDPRRDYATAVPRLLHGLADGAHGLADAPLGLPGL
                     AAAPGLEDLQAMDEPGMSLLDQSVIKKVPIPSKASSLSALSLAKDSLVGGITNPGEVF
                     CSVPGRLSLLSSTSKYKVTVGEVQRRLSPPECLNASLLGGVLRRAKSKNGGRCLRERL
                     EKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAAAEYLCRQHAD
                     PGELHSRKSMLLAAKQICKEFADLMAQDRSPLGNSRPALILEPGVQSCLTHFSLITHG
                     FGGPAICAALTAFQNYLLESLKGLDKMFLSSVGSGHGETKASEKDAKHRK"
     exon            292..774
                     /gene="TFAP2E"
                     /gene_synonym="AP-2epsilon; AP2E"
                     /inference="alignment:Splign:2.1.0"
     exon            775..826
                     /gene="TFAP2E"
                     /gene_synonym="AP-2epsilon; AP2E"
                     /inference="alignment:Splign:2.1.0"
     exon            827..1049
                     /gene="TFAP2E"
                     /gene_synonym="AP-2epsilon; AP2E"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1168
                     /gene="TFAP2E"
                     /gene_synonym="AP-2epsilon; AP2E"
                     /inference="alignment:Splign:2.1.0"
     exon            1169..1310
                     /gene="TFAP2E"
                     /gene_synonym="AP-2epsilon; AP2E"
                     /inference="alignment:Splign:2.1.0"
     exon            1311..2245
                     /gene="TFAP2E"
                     /gene_synonym="AP-2epsilon; AP2E"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2225..2230
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TFAP2E"
                     /gene_synonym="AP-2epsilon; AP2E"
                     /note="hexamer: ATTAAA"
     polyA_site      2245
                     /gene="TFAP2E"
                     /gene_synonym="AP-2epsilon; AP2E"
                     /note="major polyA site"
ORIGIN      
        1 agaggaggaa gggcgggcgc tgggcacccg ttgaccgact tttccaagtg cgatcagtgc
       61 ccgtccgtcc tgcctccatg gacccgcccg ggaacggcca ccgctgagga ccccacgccc
      121 actaggatcc cggctgggtc gcacccagct accgcaccgt gacctccgcg ggctgtgccg
      181 gctcccggcg cctctgcccg cagcgctcgc cgtcgggcta gggctccgcc gccgccacgc
      241 ctcgcgcccg gcactcaccg ccccatgctg gtgcacacct actccgccat ggagcgcccc
      301 gacgggctgg gagcagctgc cggcggggcc cgcctgtcgt ctctgcccca ggcggcctac
      361 gggccggcgc ccccgctctg ccacacgccg gccgccacag ctgccgccga attccagccg
      421 ccctacttcc cgccgcccta cccgcagcca ccgctgccct acggtcaggc gcccgacgcc
      481 gccgcagcct ttccccacct ggcaggggac ccatatggcg gcctggcgcc cctggcgcag
      541 ccgcagcctc ctcaggccgc ctgggccgcg ccccgcgcag ccgcccgcgc ccacgaggag
      601 cctcccggcc tgctggcacc gcccgcccgc gccctgggcc ttgacccgcg ccgtgactat
      661 gccactgccg tgccccggct cctgcacggc ctggccgacg gcgcgcacgg cctggcagac
      721 gcacctctcg gccttccggg gctggcggcg gcccccggtc tggaggacct gcaggcaatg
      781 gacgagccgg gaatgagcct cctagaccag tccgtgatca agaaagtgcc catcccctcc
      841 aaagccagca gcctctcagc cctctccttg gccaaagaca gcctggtggg cggcatcaca
      901 aatcctggtg aggtcttctg ctccgtgccc ggccggcttt cactgctcag ctcaacgtcc
      961 aagtacaagg tgacggtggg ggaggtgcag cggcgactct cgcctcccga gtgcctcaac
     1021 gcctccctcc tggggggtgt cctccgcagg gccaagtcca aaaatggggg ccggtgtttg
     1081 cgggaacggt tagagaagat tgggctcaac ctgccagctg gccgtcgcaa ggccgccaat
     1141 gtgacgctgc tgacttcgct agtggaagga gaggccgtgc acctggcccg agacttcggt
     1201 tacgtctgtg agacggagtt cccagccaag gcagctgccg agtacctgtg ccgacagcac
     1261 gctgacccgg gggagctgca cagccgcaag agcatgctgc tggctgccaa gcagatctgc
     1321 aaggagtttg cagacttgat ggctcaggac cgctcaccgc tgggcaacag ccgcccagca
     1381 ctcatcctgg agcccggagt acagagctgc ttgacacact ttagcctcat cacccatggc
     1441 ttcggtgggc ctgccatctg tgctgccctc actgccttcc agaactattt gctggagtca
     1501 ctcaaggggc tggacaagat gtttctaagc agtgtgggca gtgggcatgg tgaaaccaag
     1561 gcttcggaga aggatgccaa gcatcggaaa taactgcttc tcccacccca tccctaaggg
     1621 gctcccaggc cctgaaatag ggacttagct cttgggggtg ggcctggaag gactgaaagg
     1681 tgggattaga gtcaggccag aaagagaaca ttcatccaga gatcccagag ttggggatct
     1741 ggcttggagt aagggagggt ggcctctctg tggtggtgtg ttggtaagtt aagggcccag
     1801 gtatttgtct catgtgtgca attttctgac ctttgatggt tgagaagggt ttggacagaa
     1861 aattgacatg aaaagatctg gctcatgggg cagagccctt tccattagcg tggctgggtg
     1921 gccgtgggtg cttctagagg ccaaagcctt tgtgtttttc actggtggca ggaggaaaat
     1981 tgataaatca gaggtgctac tgaggagttg gtgcccctca ttccagaatc tcctaccccc
     2041 agaaaagggg tgctggaagg aggccccagt ggactctttg tacccttcct actctcagag
     2101 agaagtgggc aggaggggtc ctcaaggaac aaagaagata aagcacaaat cgcagaactt
     2161 gaatccaggc tgctgctcat catagtcctg ttgctgtctg tcctatttat ttatgtatgt
     2221 tgtaattaaa tttgaaattt taaaa
//
