LOCUS       NM_000635               3959 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens regulatory factor X2 (RFX2), transcript variant 1,
            mRNA.
ACCESSION   NM_000635
VERSION     NM_000635.4
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 3959)
  AUTHORS   Zhang,Z., Chen,Y., Guo,Y., Shen,H., Wang,J. and Chen,H.
  TITLE     RFX2 promotes tumor cell stemness through epigenetic regulation of
            PAF1 in spinal ependymoma
  JOURNAL   J Neurooncol 165 (3), 487-497 (2023)
   PUBMED   38057505
  REMARK    GeneRIF: RFX2 promotes tumor cell stemness through epigenetic
            regulation of PAF1 in spinal ependymoma.
REFERENCE   2  (bases 1 to 3959)
  AUTHORS   Pal,S., Paladhi,P., Dutta,S., Bose,G., Ghosh,P., Chattopadhyay,R.,
            Chakravarty,B., Saha,I. and Ghosh,S.
  TITLE     Novel variations in spermatogenic transcription regulators RFX2 and
            TAF7 increase risk of azoospermia
  JOURNAL   J Assist Reprod Genet 38 (12), 3195-3212 (2021)
   PUBMED   34762273
  REMARK    GeneRIF: Novel variations in spermatogenic transcription regulators
            RFX2 and TAF7 increase risk of azoospermia.
REFERENCE   3  (bases 1 to 3959)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3959)
  AUTHORS   Koay,T.W., Osterhof,C., Orlando,I.M.C., Keppner,A., Andre,D.,
            Yousefian,S., Suarez Alonso,M., Correia,M., Markworth,R.,
            Schodel,J., Hankeln,T. and Hoogewijs,D.
  TITLE     Androglobin gene expression patterns and FOXJ1-dependent regulation
            indicate its functional association with ciliogenesis
  JOURNAL   J Biol Chem 296, 100291 (2021)
   PUBMED   33453283
  REMARK    GeneRIF: Androglobin gene expression patterns and FOXJ1-dependent
            regulation indicate its functional association with ciliogenesis.
REFERENCE   5  (bases 1 to 3959)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 3959)
  AUTHORS   Morotomi-Yano,K., Yano,K., Saito,H., Sun,Z., Iwama,A. and Miki,Y.
  TITLE     Human regulatory factor X 4 (RFX4) is a testis-specific dimeric
            DNA-binding protein that cooperates with other human RFX members
  JOURNAL   J Biol Chem 277 (1), 836-842 (2002)
   PUBMED   11682486
REFERENCE   7  (bases 1 to 3959)
  AUTHORS   Iwama,A., Pan,J., Zhang,P., Reith,W., Mach,B., Tenen,D.G. and
            Sun,Z.
  TITLE     Dimeric RFX proteins contribute to the activity and lineage
            specificity of the interleukin-5 receptor alpha promoter through
            activation and repression domains
  JOURNAL   Mol Cell Biol 19 (6), 3940-3950 (1999)
   PUBMED   10330134
REFERENCE   8  (bases 1 to 3959)
  AUTHORS   Doyle,J., Hoffman,S., Ucla,C., Reith,W., Mach,B. and Stubbs,L.
  TITLE     Locations of human and mouse genes encoding the RFX1 and RFX2
            transcription factor proteins
  JOURNAL   Genomics 35 (1), 227-230 (1996)
   PUBMED   8661125
REFERENCE   9  (bases 1 to 3959)
  AUTHORS   Reith,W., Ucla,C., Barras,E., Gaud,A., Durand,B.,
            Herrero-Sanchez,C., Kobr,M. and Mach,B.
  TITLE     RFX1, a transactivator of hepatitis B virus enhancer I, belongs to
            a novel family of homodimeric and heterodimeric DNA-binding
            proteins
  JOURNAL   Mol Cell Biol 14 (2), 1230-1244 (1994)
   PUBMED   8289803
REFERENCE   10 (bases 1 to 3959)
  AUTHORS   Pugliatti,L., Derre,J., Berger,R., Ucla,C., Reith,W. and Mach,B.
  TITLE     The genes for MHC class II regulatory factors RFX1 and RFX2 are
            located on the short arm of chromosome 19
  JOURNAL   Genomics 13 (4), 1307-1310 (1992)
   PUBMED   1505960
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC028579.1, BC071571.1 and
            AI149945.1.
            
            On Nov 23, 2018 this sequence version replaced NM_000635.3.
            
            Summary: This gene is a member of the regulatory factor X gene
            family, which encodes transcription factors that contain a
            highly-conserved winged helix DNA binding domain. The protein
            encoded by this gene is structurally related to regulatory factors
            X1, X3, X4, and X5. It is a transcriptional activator that can bind
            DNA as a monomer or as a heterodimer with other RFX family members.
            This protein can bind to cis elements in the promoter of the IL-5
            receptor alpha gene. Two transcript variants encoding different
            isoforms have been described for this gene, and both variants
            utilize alternative polyadenylation sites. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) is the longer transcript and
            encodes the longer protein (isoform a).
            
            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 :: BC071571.1, SRR1660809.196488.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303657.10/ ENSP00000306335.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1944              BC028579.1         66-2009
            1945-2423           BC071571.1         1979-2457
            2424-3596           BC028579.1         2489-3661
            3597-3959           AI149945.1         3-365               c
FEATURES             Location/Qualifiers
     source          1..3959
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..3959
                     /gene="RFX2"
                     /note="regulatory factor X2"
                     /db_xref="GeneID:5990"
                     /db_xref="HGNC:HGNC:9983"
                     /db_xref="MIM:142765"
     exon            1..108
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            109..206
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..2288
                     /gene="RFX2"
                     /note="isoform a is encoded by transcript variant 1;
                     trans-acting regulatory factor 2; HLA class II regulatory
                     factor RFX2; DNA-binding protein RFX2; regulatory factor X
                     2; regulatory factor X, 2 (influences HLA class II
                     expression)"
                     /codon_start=1
                     /product="DNA-binding protein RFX2 isoform a"
                     /protein_id="NP_000626.2"
                     /db_xref="CCDS:CCDS12157.1"
                     /db_xref="GeneID:5990"
                     /db_xref="HGNC:HGNC:9983"
                     /db_xref="MIM:142765"
                     /translation="MQNSEGGADSPASVALRPSAAAPPVPASPQRVLVQAASSNPKGA
                     QMQPISLPRVQQVPQQVQPVQHVYPAQVQYVEGGDAVYTNGAIRTAYTYNPEPQMYAP
                     SSTASYFEAPGGAQVTVAASSPPAVPSHSMVGITMDVGGSPIVSSAGAYLIHGGMDST
                     RHSLAHTSRSSPATLEMAIENLQKSEGITSHKSGLLNSHLQWLLDNYETAEGVSLPRS
                     SLYNHYLRHCQEHKLDPVNAASFGKLIRSVFMGLRTRRLGTRGNSKYHYYGIRLKPDS
                     PLNRLQEDTQYMAMRQQPMHQKPRYRPAQKTDSLGDSGSHSGLHSTPEQTMAVQSQHH
                     QQYIDVSHVFPEFPAPDLGSFLLQDGVTLHDVKALQLVYRRHCEATVDVVMNLQFHYI
                     EKLWLSFWNSKASSSDGPTSLPASDEDPEGAVLPKDKLISLCQCDPILRWMRSCDHIL
                     YQALVEILIPDVLRPVPSTLTQAIRNFAKSLEGWLTNAMSDFPQQVIQTKVGVVSAFA
                     QTLRRYTSLNHLAQAARAVLQNTSQINQMLSDLNRVDFANVQEQASWVCQCEESVVQR
                     LEQDFKLTLQQQSSLDQWASWLDSVVTQVLKQHAGSPSFPKAARQFLLKWSFYSSMVI
                     RDLTLRSAASFGSFHLIRLLYDEYMFYLVEHRVAEATGETPIAVMGEFNDLASLSLTL
                     LDKDDMGDEQRGSEAGPDARSLGEPLVKRERSDPNHSLQGI"
     exon            207..296
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            297..376
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            377..638
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            639..713
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            714..895
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            896..1015
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1131
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1132..1250
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..1363
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1364..1518
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1519..1616
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1617..1766
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1767..1975
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1976..2129
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            2130..2172
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     exon            2173..3959
                     /gene="RFX2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      3620
                     /gene="RFX2"
     regulatory      3937..3942
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFX2"
                     /note="hexamer: AATACA"
     polyA_site      3959
                     /gene="RFX2"
                     /note="major polyA site"
ORIGIN      
        1 atagagactg tagccgtgga gactgttact taccaacggg gaccaacacg cagcagccgc
       61 tgccgccgcc gcgggagccg ctgcccgaac tcccggcccg aactccagac ctgagcatgc
      121 agaattccga gggtggagcg gattcgccag cgtccgtggc tctgcgtccc tcggcggcag
      181 ccccgcctgt gccagcctcc ccgcagaggg tgttggtcca ggcagccagc tccaatccca
      241 aaggggccca gatgcagccg atctccctcc ccagagttca gcaggtaccc cagcaggtgc
      301 agccggtgca gcacgtgtat cctgcccagg tgcagtacgt ggaaggggga gacgccgtct
      361 acaccaatgg agccatacga acagcctaca cctacaaccc cgagcctcag atgtacgccc
      421 ccagcagcac ggcttcttac ttcgaggccc caggcggtgc ccaggtgacc gtggcagcct
      481 cgtccccgcc agcggtcccc tcccacagca tggtgggcat caccatggat gtcgggggga
      541 gccccatcgt ctccagcgcg ggagcctatc tcatccacgg ggggatggac agcaccagac
      601 actccctggc ccacacctcc cgctcatcgc ccgccacgct tgaaatggcg attgaaaacc
      661 tccaaaaaag cgaaggaatc acatcacaca aaagcggttt actcaacagc catctccagt
      721 ggctgttgga taattatgaa acagcggaag gtgtgagtct ccccagaagt tctctttaca
      781 accactacct tcggcactgc caggagcaca agctagaccc agtgaacgcc gcctccttcg
      841 ggaaactgat ccgttctgtg tttatggggc tgagaacgcg gcggctgggc accaggggca
      901 actcgaagta ccattactat gggattcgtc tgaagccgga ctcaccactg aaccggctgc
      961 aggaggacac gcagtacatg gccatgcggc agcagcccat gcaccagaag cccaggtacc
     1021 ggccagccca gaagacggac agcctcgggg acagcggctc ccacagcggc ctgcacagca
     1081 ctccggaaca gaccatggcc gtgcagagcc agcaccacca gcagtacata gatgtctccc
     1141 acgtcttccc cgagttccca gcgcccgacc tgggcagctt cctgctgcag gacggcgtca
     1201 cactgcacga cgtcaaggcc ctgcagctgg tgtacagacg gcactgcgag gcaactgtag
     1261 atgtggtgat gaacctccag ttccactaca tcgagaagct gtggctctcc ttctggaact
     1321 ctaaggcctc ctccagcgac ggccccacct ctcttcctgc cagtgacgaa gaccccgagg
     1381 gcgccgtcct gcccaaggac aagcttatct ccctgtgtca gtgcgacccc atcctcaggt
     1441 ggatgaggag ctgcgaccac atcctctacc aggcgctggt ggagattctc atccccgacg
     1501 tgctgaggcc ggtccccagt accttgacac aggccatccg taactttgcc aagagcttgg
     1561 aaggctggtt gacaaatgcc atgagtgact tcccacaaca ggtcatccag accaaggtgg
     1621 gcgtcgtcag tgccttcgcc cagacgctgc ggcgctacac gtccctcaac cacctggcgc
     1681 aggcggcccg ggcggtgctg cagaacacgt cccagatcaa ccagatgctc agcgacctca
     1741 accgcgtgga ctttgccaac gtgcaggagc aggcctcgtg ggtgtgccag tgcgaggaga
     1801 gtgtggtgca gcggctggag caggatttca agctgaccct gcagcagcag agctccctgg
     1861 accagtgggc cagctggctg gacagtgtgg tcacccaggt cctgaagcag catgccggca
     1921 gccccagctt ccccaaggcc gcccggcagt tcttgctgaa atggtccttt tacagctcca
     1981 tggtgatccg ggacctgacc ctgcgcagcg ctgccagctt cggctccttc cacctcatcc
     2041 gcctgctcta cgacgagtac atgttctacc tggtggagca ccgcgtcgcg gaggccaccg
     2101 gagagacgcc gatcgctgtg atgggagagt tcaacgatct cgcctctctg tcgctgacgc
     2161 tgctcgacaa agatgacatg ggcgatgagc agcgtggcag cgaggcgggc ccagacgccc
     2221 gcagcctggg tgagcccctg gtaaagcggg agcgcagtga ccccaaccac tccctgcagg
     2281 gcatctagca gccccggccg gcgcctcctc gaggttccaa aagatgccgc ctggtcactc
     2341 tgggaacctg gatttcaccg gctccaccaa attagtgcct cttagatgat gtgatgttta
     2401 ctttgactca agcgggggct cccggggtca gtgttcaaga aggaaagcag ttgttgaagc
     2461 tacagaagcc caggccaggg ctcccactgg ctgtagctgt gctctgggtc cccaggtccc
     2521 tgcgcagcca ccagggcccc accagaccat gggttcctta ttctggacaa accctcctct
     2581 gctggaaccc tggactttgg ccccagtccc tttaagagct gaaagggctg tgctgagagc
     2641 actggcctct gcactcaact ggaaccaatt ttcaccatga ttttaaaaat taaaaaaacc
     2701 tggcagagcc cgactagaaa gggacggcct ctcccctcct acctgccacc gctggggagg
     2761 cacagagctc gccagcgtcc ctggagtccc ctcaggaatg gaaagtggag tgcccttgtc
     2821 tggtagcacc atgtgggagg gacccagctg ggcgcagcgc cctgtggcct tttagatcca
     2881 gacctccctg ccggatgccc cgaggcggga ggccggctgt gctgcaggaa cccatctcca
     2941 gatgccaaag gacttgaggg gcagctgaca atcgctgtgt cccggcagat ccgcagctcg
     3001 aaaaagaaca agccacagaa acgggctcgc tcgtgccagg acacagcagt gtctttcaaa
     3061 aaatcaaaac cagaagtttt atcagcagca ggaaggatgt gggactctgt ccaagttcac
     3121 cgtcaccatc aagccactgg ctgtggaagg agtttgtcca acagggtcag tgtcacagcc
     3181 acaacttcag aaagcagcca tcccgcgtgt cgtccaaaca gcagtgcctg cgtcccgctc
     3241 cacggagtct tccagaacac ctccctctga actaatcccg gagcacccca cccccagcga
     3301 gtcccacctg gacctcttca aagtcaaaac tcttctctcg ggacaaacaa atattcggga
     3361 ctttcgaagc cctgaacttg agacaccaag tttgtctcca tggaaacacg tagccgctgc
     3421 agttggacag ctgcgtgctg gagttctgtc cccaaaccaa ctgcagagaa gaaagacgag
     3481 cctcggccca ggacgcgatt tctaacgaaa tgcaatagtt ttctcttttt ggaaaaatgt
     3541 ttataccaat agttttgtgc gctaattgtt attagaacgt ttcttatgaa tgtgtacatt
     3601 gcagtatatt cagtcccaaa tgttttgttc tcattcacac agaaggtact aatgtcagct
     3661 cacgtggcct ttaaaaacct acttccccgc ccgcaggagc tcagagcatc gctgggcctg
     3721 cgccagagtg aggggtgcag gaagacaaag acgcgtgctc actttagaaa cgaaaagctg
     3781 ggaataatca cactgtttgt ctggtcgtat agcccaaacc ttagttgaaa tcagacagaa
     3841 agaatgtctt taaaatatac atctcctctc cttggagaca ctgaagctca cagttaacgg
     3901 attgtaatgc ccggcttttc ctcactcctg gtaaccaata caagctggtt tctgcctta
//
