RFX2_MOUSE
ID RFX2_MOUSE Reviewed; 717 AA.
AC P48379; Q8BXR3;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
DT 28-JUL-2009, sequence version 2.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=DNA-binding protein RFX2;
DE AltName: Full=Regulatory factor X 2;
GN Name=Rfx2;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC STRAIN=BALB/cJ; TISSUE=Spleen;
RX PubMed=8289803; DOI=10.1128/mcb.14.2.1230-1244.1994;
RA Reith W., Ucla C., Barras E., Gaud A., Durand B., Herrero-Sanchez C.,
RA Kobr M., Mach B.;
RT "RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel
RT family of homodimeric and heterodimeric DNA-binding proteins.";
RL Mol. Cell. Biol. 14:1230-1244(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=C57BL/6J; TISSUE=Retina;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=FVB/N; TISSUE=Mammary gland;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP FUNCTION, SUBUNIT, AND DNA-BINDING.
RX PubMed=15229132; DOI=10.1095/biolreprod.104.032268;
RA Horvath G.C., Kistler W.S., Kistler M.K.;
RT "RFX2 is a potential transcriptional regulatory factor for histone H1t and
RT other genes expressed during the meiotic phase of spermatogenesis.";
RL Biol. Reprod. 71:1551-1559(2004).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [6]
RP DEVELOPMENTAL STAGE.
RX PubMed=22233545; DOI=10.1016/j.ydbio.2011.12.030;
RA Bisgrove B.W., Makova S., Yost H.J., Brueckner M.;
RT "RFX2 is essential in the ciliated organ of asymmetry and an RFX2 transgene
RT identifies a population of ciliated cells sufficient for fluid flow.";
RL Dev. Biol. 363:166-178(2012).
RN [7]
RP FUNCTION, DISRUPTION PHENOTYPE, AND DEVELOPMENTAL STAGE.
RX PubMed=26248850; DOI=10.1002/dvg.22880;
RA Shawlot W., Vazquez-Chantada M., Wallingford J.B., Finnell R.H.;
RT "Rfx2 is required for spermatogenesis in the mouse.";
RL Genesis 53:604-611(2015).
RN [8]
RP FUNCTION, DISRUPTION PHENOTYPE, AND DNA-BINDING.
RX PubMed=26162102; DOI=10.1371/journal.pgen.1005368;
RA Kistler W.S., Baas D., Lemeille S., Paschaki M., Seguin-Estevez Q.,
RA Barras E., Ma W., Duteyrat J.L., Morle L., Durand B., Reith W.;
RT "RFX2 is a major transcriptional regulator of spermiogenesis.";
RL PLoS Genet. 11:E1005368-E1005368(2015).
RN [9]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=26853561; DOI=10.1038/srep20435;
RA Wu Y., Hu X., Li Z., Wang M., Li S., Wang X., Lin X., Liao S., Zhang Z.,
RA Feng X., Wang S., Cui X., Wang Y., Gao F., Hess R.A., Han C.;
RT "Transcription factor RFX2 is a key regulator of mouse spermiogenesis.";
RL Sci. Rep. 6:20435-20435(2016).
CC -!- FUNCTION: Transcription factor that acts as a key regulator of
CC spermatogenesis (PubMed:26248850, PubMed:26162102, PubMed:26853561).
CC Acts by regulating expression of genes required for the haploid phase
CC during spermiogenesis, such as genes required for cilium assembly and
CC function (PubMed:26162102, PubMed:26853561). Recognizes and binds the
CC X-box, a regulatory motif with DNA sequence 5'-GTNRCC(0-3N)RGYAAC-3'
CC present on promoters (PubMed:15229132, PubMed:26162102). Probably
CC activates transcription of the testis-specific histone gene H1-6
CC (PubMed:15229132). {ECO:0000269|PubMed:15229132,
CC ECO:0000269|PubMed:26162102, ECO:0000269|PubMed:26248850,
CC ECO:0000269|PubMed:26853561}.
CC -!- SUBUNIT: Homodimer; probably only forms homodimers in testis
CC (PubMed:15229132). Heterodimer; heterodimerizes with RFX1 and RFX3
CC (PubMed:15229132). {ECO:0000269|PubMed:15229132}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:B2GV50,
CC ECO:0000255|PROSITE-ProRule:PRU00858}. Cytoplasm
CC {ECO:0000250|UniProtKB:B2GV50}. Note=Mainly expressed in the nucleus
CC and at lower level in cytoplasm. {ECO:0000250|UniProtKB:B2GV50}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P48379-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P48379-2; Sequence=VSP_037812;
CC -!- DEVELOPMENTAL STAGE: Detected in the anterior primitive streak
CC preceding the morphological appearance of the node at 7.0 dpc.
CC Expressed in the node and in the midline notochordal plate cells
CC extending anteriorly from the node at 7.5 dpc. At 8.5 dpc, expressed in
CC the node now located in the tail region. At 9.5 dpc, detected in the
CC floor plate and in the dorsal portion of the neural tube, with highest
CC expression in the anterior portion of the spinal cord. Also expressed
CC in the developing gut. At 10.5 dpc, also observed in the telencephalon
CC region of the brain and in the anterior portion of the limb bud at 12.5
CC dpc (PubMed:26248850). Localizes to cells at the posterior margin of
CC the ciliated organ of asymmetry (PubMed:22233545).
CC {ECO:0000269|PubMed:22233545, ECO:0000269|PubMed:26248850}.
CC -!- DISRUPTION PHENOTYPE: Mice are perfectly viable but show complete male
CC sterility (PubMed:26248850, PubMed:26162102, PubMed:26853561).
CC Spermatogenesis proceeds normally through meiosis. However, haploid
CC cells undergo a complete arrest in spermatid development before
CC spermatid elongation (PubMed:26248850, PubMed:26162102). Arrested cells
CC show altered Golgi apparatus organization, leading to a deficit in the
CC generation of a spreading acrosomal cap from proacrosomal vesicles and
CC merge to form giant multinucleated cells released to the epididymis.
CC Spermatids also completely fail to form the flagellar axoneme
CC (PubMed:26162102). {ECO:0000269|PubMed:26162102,
CC ECO:0000269|PubMed:26248850, ECO:0000269|PubMed:26853561}.
CC -!- SIMILARITY: Belongs to the RFX family. {ECO:0000255|PROSITE-
CC ProRule:PRU00858}.
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DR EMBL; X76089; CAA53703.1; -; mRNA.
DR EMBL; AK044439; BAC31919.1; -; mRNA.
DR EMBL; BC004654; AAH04654.1; -; mRNA.
DR CCDS; CCDS28915.1; -. [P48379-2]
DR CCDS; CCDS50156.1; -. [P48379-1]
DR PIR; C55926; C55926.
DR RefSeq; NP_033082.1; NM_009056.2. [P48379-2]
DR RefSeq; NP_082063.1; NM_027787.1. [P48379-1]
DR AlphaFoldDB; P48379; -.
DR SMR; P48379; -.
DR BioGRID; 202873; 4.
DR IntAct; P48379; 4.
DR STRING; 10090.ENSMUSP00000002444; -.
DR iPTMnet; P48379; -.
DR PhosphoSitePlus; P48379; -.
DR SwissPalm; P48379; -.
DR MaxQB; P48379; -.
DR PaxDb; P48379; -.
DR PeptideAtlas; P48379; -.
DR PRIDE; P48379; -.
DR ProteomicsDB; 254924; -. [P48379-1]
DR ProteomicsDB; 254925; -. [P48379-2]
DR Antibodypedia; 24073; 157 antibodies from 25 providers.
DR DNASU; 19725; -.
DR Ensembl; ENSMUST00000002444; ENSMUSP00000002444; ENSMUSG00000024206. [P48379-1]
DR Ensembl; ENSMUST00000086801; ENSMUSP00000084010; ENSMUSG00000024206. [P48379-2]
DR GeneID; 19725; -.
DR KEGG; mmu:19725; -.
DR UCSC; uc008ddf.2; mouse. [P48379-2]
DR UCSC; uc008ddg.2; mouse. [P48379-1]
DR CTD; 5990; -.
DR MGI; MGI:106583; Rfx2.
DR VEuPathDB; HostDB:ENSMUSG00000024206; -.
DR eggNOG; KOG3712; Eukaryota.
DR GeneTree; ENSGT01050000244879; -.
DR HOGENOM; CLU_010393_1_1_1; -.
DR InParanoid; P48379; -.
DR OMA; QYMAIRQ; -.
DR OrthoDB; 346630at2759; -.
DR PhylomeDB; P48379; -.
DR TreeFam; TF321340; -.
DR BioGRID-ORCS; 19725; 2 hits in 73 CRISPR screens.
DR ChiTaRS; Rfx2; mouse.
DR PRO; PR:P48379; -.
DR Proteomes; UP000000589; Chromosome 17.
DR RNAct; P48379; protein.
DR Bgee; ENSMUSG00000024206; Expressed in seminiferous tubule of testis and 127 other tissues.
DR ExpressionAtlas; P48379; baseline and differential.
DR Genevisible; P48379; MM.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IMP:NTNU_SB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IMP:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IMP:UniProtKB.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IMP:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0001675; P:acrosome assembly; IMP:UniProtKB.
DR GO; GO:1990830; P:cellular response to leukemia inhibitory factor; IEP:MGI.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IMP:NTNU_SB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IMP:UniProtKB.
DR GO; GO:0007286; P:spermatid development; IMP:UniProtKB.
DR Gene3D; 1.10.10.10; -; 1.
DR InterPro; IPR003150; DNA-bd_RFX.
DR InterPro; IPR039779; RFX-like.
DR InterPro; IPR007668; RFX1_trans_act.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR InterPro; IPR036390; WH_DNA-bd_sf.
DR PANTHER; PTHR12619; PTHR12619; 1.
DR Pfam; PF04589; RFX1_trans_act; 1.
DR Pfam; PF02257; RFX_DNA_binding; 1.
DR SUPFAM; SSF46785; SSF46785; 1.
DR PROSITE; PS51526; RFX_DBD; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cilium biogenesis/degradation; Cytoplasm;
KW Differentiation; DNA-binding; Nucleus; Phosphoprotein; Reference proteome;
KW Spermatogenesis; Transcription; Transcription regulation.
FT CHAIN 1..717
FT /note="DNA-binding protein RFX2"
FT /id="PRO_0000215289"
FT DNA_BIND 194..269
FT /note="RFX-type winged-helix"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00858"
FT REGION 1..28
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 286..318
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 685..717
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 685..711
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 26
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P48378"
FT MOD_RES 411
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:B2GV50"
FT VAR_SEQ 170..194
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:8289803"
FT /id="VSP_037812"
SQ SEQUENCE 717 AA; 79190 MW; 3A0EBF008ECD8B61 CRC64;
MQNSEGGADS PASVALRPAA QPMPASPQRV LVQAAGSTPK GTPMQTLTLP RVQPVPPQVQ
HVYPAQVQYV EGGDAVYANG AIRAAYAYNP DPQLYAPSSA ASYFETPGGT QVTVAASSPP
AVPSHGMVGI TMDVSGTPIV SGAGAYLIHG GMDGTRHSLA HTARSSPATL EMAIETLQKS
EGLAPHKGGL LNSHLQWLLD NYETAEGVSL PRSSLYNHYL RHCQEHKLEP VNAASFGKLI
RSVFMGLRTR RLGTRGNSKY HYYGIRLKPD SPLNRLQEDT QYMAMRQQPT HQKPRYRPAQ
KSDSLGDGSA HSNMHGMPDQ AMATQGQHHQ QYIDVSHVFP EFPAPDLGST LLQESVTLHD
VKALQLVYRR HCEATLDVVM NLQFQYIEKL WLSFWNCKAT SSDSCASLPA SDEDPEVTLL
PKEKLISLCK CEPILQWMRS CDHILYQTLV ETLIPDVLRP VPSSLTQAIR NFAKSLEGWL
INAMSGFPQQ VIQTKVGVVS AFAQTLRRYT SLNHLAQAAR AVLQNTSQIN QMLSDLNRVD
FANVQEQASW VCQCEESLVQ RLEHDFKVTL QQQSSLDQWA SWLDNVVTQV LKQHSGSPSF
PKAARQFLLK WSFYSSMVIR DLTLRSAASF GSFHLIRLLY DEYMFYLVEH RVAQATGETP
IAVMGEFNDL ASLSLTLLDK EDIGDGHSSE ADVDGRSLGE PLVKRERSDP SHPLQGI
