LOCUS       NM_001171876            3813 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens MCF.2 cell line derived transforming sequence (MCF2),
            transcript variant 3, mRNA.
ACCESSION   NM_001171876
VERSION     NM_001171876.2
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 3813)
  AUTHORS   Feddersen,C.R., Schillo,J.L., Varzavand,A., Vaughn,H.R.,
            Wadsworth,L.S., Voigt,A.P., Zhu,E.Y., Jennings,B.M., Mullen,S.A.,
            Bobera,J., Riordan,J.D., Stipp,C.S. and Dupuy,A.J.
  TITLE     Src-Dependent DBL Family Members Drive Resistance to Vemurafenib in
            Human Melanoma
  JOURNAL   Cancer Res 79 (19), 5074-5087 (2019)
   PUBMED   31416844
  REMARK    GeneRIF: we elucidate a mechanism through which the DBL family
            members MCF2 and VAV1 act to drive drug resistance in human
            BRAFV600E-mutant melanoma cells
REFERENCE   2  (bases 1 to 3813)
  AUTHORS   Vanni,C., Ognibene,M., Finetti,F., Mancini,P., Cabodi,S.,
            Segalerba,D., Torrisi,M.R., Donnini,S., Bosco,M.C., Varesio,L. and
            Eva,A.
  TITLE     Dbl oncogene expression in MCF-10 A epithelial cells disrupts
            mammary acinar architecture, induces EMT and angiogenic factor
            secretion
  JOURNAL   Cell Cycle 14 (9), 1426-1437 (2015)
   PUBMED   25723869
  REMARK    GeneRIF: Results support a role for Dbl oncogene in mammary
            epithelial cell differentiation and transformation and suggest the
            relevance of GEF deregulation in tumor onset and progression.
REFERENCE   3  (bases 1 to 3813)
  AUTHORS   Blajecka,K., Marinov,M., Leitner,L., Uth,K., Posern,G. and
            Arcaro,A.
  TITLE     Phosphoinositide 3-kinase C2beta regulates RhoA and the actin
            cytoskeleton through an interaction with Dbl
  JOURNAL   PLoS One 7 (9), e44945 (2012)
   PUBMED   22984590
  REMARK    GeneRIF: Phosphoinositide 3-kinase C2beta regulates RhoA and the
            actin cytoskeleton through an interaction with Dbl
REFERENCE   4  (bases 1 to 3813)
  AUTHORS   Ognibene,M., Vanni,C., Segalerba,D., Mancini,P., Merello,E.,
            Torrisi,M.R., Bosco,M.C., Varesio,L. and Eva,A.
  TITLE     The tumor suppressor hamartin enhances Dbl protein transforming
            activity through interaction with ezrin
  JOURNAL   J Biol Chem 286 (34), 29973-29983 (2011)
   PUBMED   21712385
  REMARK    GeneRIF: Dbl is regulated by hamartin through association with
            ezrin.
REFERENCE   5  (bases 1 to 3813)
  AUTHORS   Piton,A., Gauthier,J., Hamdan,F.F., Lafreniere,R.G., Yang,Y.,
            Henrion,E., Laurent,S., Noreau,A., Thibodeau,P., Karemera,L.,
            Spiegelman,D., Kuku,F., Duguay,J., Destroismaisons,L., Jolivet,P.,
            Cote,M., Lachapelle,K., Diallo,O., Raymond,A., Marineau,C.,
            Champagne,N., Xiong,L., Gaspar,C., Riviere,J.B., Tarabeux,J.,
            Cossette,P., Krebs,M.O., Rapoport,J.L., Addington,A., Delisi,L.E.,
            Mottron,L., Joober,R., Fombonne,E., Drapeau,P. and Rouleau,G.A.
  TITLE     Systematic resequencing of X-chromosome synaptic genes in autism
            spectrum disorder and schizophrenia
  JOURNAL   Mol Psychiatry 16 (8), 867-880 (2011)
   PUBMED   20479760
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3813)
  AUTHORS   Galland,F., Stefanova,M., Lafage,M. and Birnbaum,D.
  TITLE     Localization of the 5' end of the MCF2 oncogene to human chromosome
            15q15----q23
  JOURNAL   Cytogenet Cell Genet 60 (2), 114-116 (1992)
   PUBMED   1611909
REFERENCE   7  (bases 1 to 3813)
  AUTHORS   Ron,D., Zannini,M., Lewis,M., Wickner,R.B., Hunt,L.T., Graziani,G.,
            Tronick,S.R., Aaronson,S.A. and Eva,A.
  TITLE     A region of proto-dbl essential for its transforming activity shows
            sequence similarity to a yeast cell cycle gene, CDC24, and the
            human breakpoint cluster gene, bcr
  JOURNAL   New Biol 3 (4), 372-379 (1991)
   PUBMED   2065022
REFERENCE   8  (bases 1 to 3813)
  AUTHORS   Tronick,S.R., McBride,O.W., Popescu,N.C. and Eva,A.
  TITLE     Chromosomal localization of DBL oncogene sequences
  JOURNAL   Genomics 5 (3), 546-553 (1989)
   PUBMED   2613238
REFERENCE   9  (bases 1 to 3813)
  AUTHORS   Noguchi,T., Galland,F., Batoz,M., Mattei,M.G. and Birnbaum,D.
  TITLE     Activation of a mcf.2 oncogene by deletion of amino-terminal coding
            sequences
  JOURNAL   Oncogene 3 (6), 709-715 (1988)
   PUBMED   2577874
REFERENCE   10 (bases 1 to 3813)
  AUTHORS   Ron,D., Tronick,S.R., Aaronson,S.A. and Eva,A.
  TITLE     Molecular cloning and characterization of the human dbl
            proto-oncogene: evidence that its overexpression is sufficient to
            transform NIH/3T3 cells
  JOURNAL   EMBO J 7 (8), 2465-2473 (1988)
   PUBMED   3056717
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC298193.1, AK316416.1,
            AL033403.1 and AL117234.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001171876.1.
            
            Summary: The oncogenic protein encoded by this gene is a guanine
            nucleotide exchange factor (GEF) that exerts control over some
            members of the Rho family of small GTPases. Several transcript
            variants encoding different isoforms have been found for this gene.
            These isoforms exhibit different expression patterns and varying
            levels of GEF activity.[provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (c).
            
            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 :: AK316416.1, AK302957.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000519895.6/ ENSP00000430276.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                DC298193.1         56-80
            26-1273             AK316416.1         69-1316
            1274-1274           AL033403.1         90843-90843         c
            1275-2393           AK316416.1         1318-2436
            2394-2394           AL033403.1         70085-70085         c
            2395-3286           AK316416.1         2438-3329
            3287-3812           AL117234.1         3177-3702
            3813-3813           AL033403.1         55089-55089         c
FEATURES             Location/Qualifiers
     source          1..3813
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq27.1"
     gene            1..3813
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /note="MCF.2 cell line derived transforming sequence"
                     /db_xref="GeneID:4168"
                     /db_xref="HGNC:HGNC:6940"
                     /db_xref="MIM:311030"
     exon            1..62
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            63..131
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..3112
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /note="isoform c is encoded by transcript variant 3;
                     Oncogene MCF2 (oncogene DBL); proto-oncogene DBL;
                     proto-oncogene MCF-2"
                     /codon_start=1
                     /product="proto-oncogene DBL isoform c"
                     /protein_id="NP_001165347.1"
                     /db_xref="CCDS:CCDS55517.1"
                     /db_xref="GeneID:4168"
                     /db_xref="HGNC:HGNC:6940"
                     /db_xref="MIM:311030"
                     /translation="MQDIAFLSGGRGKDNAWIITFPENCNFRCIPEEVIAKVLTYLTS
                     IARQNGSDSRFTIILDRRLDTWSSLKISLQKISASFPGNLHLVLVLRPTSFLQRTFTD
                     IGFWFSQEDFMLKLPVVMLSSVSDLLTYIDDKQLTPELGGTLQYCHSEWIIFRNAIEN
                     FALTVKEMAQMLQSFGTELAETELPDDIPSIEEILAIRAERYHLLKNDITAVTKEGKI
                     LLTNLEVPDTEGAVSSRLECHRQISGDWQTINKLLTQVHDMETAFDGFWEKHQLKMEQ
                     YLQLWKFEQDFQQLVTEVEFLLNQQAELADVTGTIAQVKQKIKKLENLDENSQELLSK
                     AQFVILHGHKLAANHHYALDLICQRCNELRYLSDILVNEIKAKRIQLSRTFKMHKLLQ
                     QARQCCDEGECLLANQEIDKFQSKEDAQKALQDIENFLEMALPFINYEPETLQYEFDV
                     ILSPELKVQMKTIQLKLENIRSIFENQQAGFRNLADKHVRPIQFVVPTPENLVTSGTP
                     FFSSKQVGVGYSFFQACKLFSKGKKTWRQNQSNLKIEVVPDCQEKRSSGPSSSLDNGN
                     SLDVLKNHVLNELIQTERVYVRELYTVLLGYRAEMDNPEMFDLMPPLLRNKKDILFGN
                     MAEIYEFHNDIFLSSLENCAHAPERVGPCFLERKDDFQMYAKYCQNKPRSETIWRKYS
                     ECAFFQECQRKLKHRLRLDSYLLKPVQRITKYQLLLKELLKYSKDCEGSALLKKALDA
                     MLDLLKSVNDSMHQIAINGYIGNLNELGKMIMQGGFSVWIGHKKGATKMKDLARFKPM
                     QRHLFLYEKAIVFCKRRVESGEGSDRYPSYSFKHCWKMDEVGITEYVKGDNRKFEIWY
                     GEKEEVYIVQASNVDVKMTWLKEIRNILLKQQELLTVKKRKQQDQLTERDKFQISLQQ
                     NDEKQQGAFISTEETELEHTSTVVEVCEAIASVQAEANTVWTEASQSAEISEEPAEWS
                     SNYFYPTYDENEEENRPLMRPVSEMALLY"
     exon            132..246
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            247..337
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            338..457
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            458..574
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            575..724
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            725..858
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            859..973
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1093
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1285
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1286..1477
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1478..1649
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1650..1697
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1698..1735
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1736..1824
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1825..1891
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1892..2007
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            2008..2077
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            2078..2170
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            2171..2263
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            2264..2389
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            2390..2611
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            2612..2704
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            2705..2783
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            2784..2856
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            2857..2966
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            2967..3079
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     exon            3080..3813
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3790..3795
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /note="hexamer: AATAAA"
     polyA_site      3813
                     /gene="MCF2"
                     /gene_synonym="ARHGEF21; DBL"
                     /note="major polyA site"
ORIGIN      
        1 gtacattctt ttggccgagg aaacagaatg agctgcgaca gtcttaagga caaacatttg
       61 tgaaaccgat ctgctcctcc gtataaagga catcagtcat ttcttaatgc aagacatcgc
      121 cttcttgtct ggtggccggg gaaaggacaa tgcttggatc attacgtttc cagaaaactg
      181 taattttaga tgtataccag aggaagtaat agcaaaagta cttacttacc tgacatctat
      241 tgcaaggcaa aatggatcag actcccggtt taccattatt ctggatcgaa gattggatac
      301 atggtcttct ctcaaaatct ctctccaaaa aatctcggct tccttccctg ggaacttgca
      361 cttggttttg gttttacgtc ctaccagctt tcttcaacga acgttcacag acattggatt
      421 ttggtttagt caggaggatt ttatgcttaa attaccagtt gttatgctga gctcagttag
      481 tgatttgctg acatacattg atgacaagca attaacccct gagttaggcg gcaccttgca
      541 gtactgccac agtgaatgga tcatcttcag aaatgctata gaaaattttg ccctcacagt
      601 gaaagaaatg gctcagatgt tacagtcctt tggaactgaa ctggctgaga cagaactacc
      661 agatgatatt ccctcaatag aagaaattct ggcaattcgt gctgaaaggt atcatctgtt
      721 gaagaatgat attacagctg taaccaaaga aggaaaaatt ctgctaacaa atctggaagt
      781 gcctgacact gaaggagctg tcagttcaag actagaatgt catcggcaaa taagtggtga
      841 ctggcaaact attaataagt tgctgactca agtacatgat atggaaacag cttttgatgg
      901 attttgggaa aaacatcaat taaaaatgga gcagtatctg caactatgga agtttgagca
      961 ggattttcaa cagcttgtga ctgaagttga atttctatta aaccaacaag cagaactggc
     1021 tgatgtaaca gggactatag ctcaagtaaa acaaaaaata aaaaaattgg aaaacttaga
     1081 tgaaaattct caggagctat tatcaaaggc ccagtttgtg atattacatg gacacaagct
     1141 tgcagcaaat caccattatg cacttgattt aatctgccag aggtgcaatg agctacgtta
     1201 cctttctgat attttggtta atgagataaa agcaaaacgg atacaactca gcaggacctt
     1261 caaaatgcat aaactcctac agcaggctcg tcaatgctgt gatgaagggg aatgtcttct
     1321 agctaatcag gaaatagata agtttcagtc taaagaagat gctcagaaag ctctccaaga
     1381 cattgaaaat tttcttgaaa tggctctacc ctttataaat tatgaacctg aaacactgca
     1441 gtatgaattt gatgtaatat tatctcctga gcttaaggtt caaatgaaga ctatacaact
     1501 caagcttgaa aacattcgaa gtatatttga gaaccagcag gctggtttca ggaacctggc
     1561 agataagcat gtgaggccaa tccaatttgt ggtacccaca cctgaaaatt tggtcacatc
     1621 tgggacacca tttttttcat ctaaacaagt gggagttgga tactctttct ttcaagcatg
     1681 taaacttttt tcaaaaggga agaagacttg gagacaaaat cagagcaact taaaaattga
     1741 agtggtgcct gattgtcagg agaagagaag ttctggtcca tcctccagtt tggacaatgg
     1801 caatagcttg gatgttttaa agaaccacgt actaaatgaa ctgatacaga ctgagagagt
     1861 ttatgttcga gaactgtata ctgttttgtt gggttataga gcggagatgg ataatccaga
     1921 gatgtttgat cttatgccac ctctcctgag aaataaaaag gacattctct ttggaaacat
     1981 ggcagaaata tatgaattcc ataacgacat tttcttgagc agcctggaaa attgtgctca
     2041 tgctccagaa agagtgggac cttgtttcct ggaaaggaag gatgattttc agatgtatgc
     2101 aaaatattgt cagaataagc ccagatcaga aacaatttgg aggaagtatt cagaatgcgc
     2161 atttttccag gaatgtcaaa gaaagttaaa acacagactt agactggatt cctatttact
     2221 caaaccagtg caacgaatca ctaaatatca gttattgttg aaggagctat taaaatatag
     2281 caaagactgt gaaggatctg ctctgttgaa gaaggcactc gatgcaatgc tggatttact
     2341 gaagtcagtt aatgattcta tgcatcagat tgcaataaat ggctatattg gaaacttaaa
     2401 tgaactgggc aagatgataa tgcaaggtgg attcagcgtt tggatagggc acaagaaagg
     2461 tgctacaaaa atgaaggatt tggctagatt caaaccaatg cagcgacacc ttttcttgta
     2521 tgaaaaagcc attgtttttt gcaaaaggcg tgttgaaagt ggagaaggct ctgacagata
     2581 cccgtcatac agttttaaac actgttggaa aatggatgaa gttggaatca ctgaatatgt
     2641 aaaaggtgat aaccgcaagt ttgaaatctg gtatggtgaa aaggaagaag tttatattgt
     2701 ccaggcttct aatgtagatg tgaagatgac gtggctaaaa gaaataagaa atattttgtt
     2761 gaagcagcag gaacttttga cagttaaaaa aagaaagcaa caggatcaat taacagaacg
     2821 ggataagttt cagatttctc ttcagcagaa tgatgaaaag caacagggag cttttataag
     2881 tactgaggaa actgaattgg aacacaccag cactgtggtg gaggtctgtg aggcaattgc
     2941 gtcagttcag gcagaagcaa atacagtttg gactgaggca tcacaatctg cagaaatctc
     3001 tgaagaacct gcggaatggt caagcaacta tttctaccct acttatgatg aaaatgaaga
     3061 agaaaatagg cccctcatga gacctgtgtc ggagatggct ctcctatatt gatgaagcta
     3121 ctatgtcaaa tggcaagtag ctctttcctg cctgcttctc agctcatttg gaaaaatact
     3181 gcgcaaaaga cattgagctc aaatgatgca gatgttgttt tcaggttaat ggacacgcaa
     3241 agaaaccaca gcacatactt cttttctttc atttaataaa gcttttaatt atggtacgct
     3301 gtctttttaa aatcatgtat ttaatgtgtc agatattgtg cttgaaagat tctcatctca
     3361 gaatactttt ggacttgaaa attatttctt ctctactttg taaccaaatg caatcggtgt
     3421 gccttggatt atttagttta ttaatgaatt aagtcaaaat tacggctgca aaatggctaa
     3481 ggtcaagtaa agcacaacat tatgatttaa tatgcttttg ttgaaaccac agcttttgtg
     3541 cccattgttt taacttgtgt gaaacaatac aaagcccaga aattcttttc ggggcatgag
     3601 taaattttgt tcagggctac tgtctgtatg tgcccagata aaattttcat gagagtagtt
     3661 tacaaaagcc gtatttaaaa gttaatattt tcacactttt tttctggatt tctgcttata
     3721 attaatgtaa cttaaattag ttgtgctctg ctattttctg tatatttcat gttgtaattc
     3781 tttttttcaa ataaaaatta attcttcagg tta
//
