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TLX2_MOUSE
ID   TLX2_MOUSE              Reviewed;         284 AA.
AC   Q61663; B2RR62;
DT   15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1996, sequence version 1.
DT   03-AUG-2022, entry version 168.
DE   RecName: Full=T-cell leukemia homeobox protein 2;
DE   AltName: Full=Enteric neuron homeobox protein;
DE   AltName: Full=Homeobox TLX-2;
DE   AltName: Full=Homeobox protein Hox-11L1;
DE   AltName: Full=Hox11L.1;
DE   AltName: Full=PMUR10F;
GN   Name=Tlx2; Synonyms=Enx, Hox11l1, Ncx, Tlx1l1;
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].
RX   PubMed=1681546; DOI=10.1073/pnas.88.20.8900;
RA   Kennedy M.A., Gonzalez-Sarmiento R., Kees U.R., Lampert F., Dear T.N.,
RA   Boehm T., Rabbitts T.H.;
RT   "HOX11, a homeobox-containing T-cell oncogene on human chromosome 10q24.";
RL   Proc. Natl. Acad. Sci. U.S.A. 88:8900-8904(1991).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
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   DISRUPTION PHENOTYPE, AND DEVELOPMENTAL STAGE.
RX   PubMed=9176491; DOI=10.1038/nm0697-646;
RA   Shirasawa S., Yunker A.M., Roth K.A., Brown G.A., Horning S.,
RA   Korsmeyer S.J.;
RT   "Enx (Hox11L1)-deficient mice develop myenteric neuronal hyperplasia and
RT   megacolon.";
RL   Nat. Med. 3:646-650(1997).
RN   [5]
RP   FUNCTION.
RX   PubMed=10869550; DOI=10.1016/s0014-5793(00)01651-3;
RA   Shimizu H., Kang M., Iitsuka Y., Ichinose M., Tokuhisa T., Hatano M.;
RT   "Identification of an optimal Ncx binding sequence required for
RT   transcriptional activation.";
RL   FEBS Lett. 475:170-174(2000).
RN   [6]
RP   DISRUPTION PHENOTYPE.
RX   PubMed=11176528; DOI=10.1016/s0022-5347(05)66590-1;
RA   Jusuf A.A., Kojima S., Matsuo M., Tokuhisa T., Hatano M.;
RT   "Vesicourethral sphincter dysfunction in ncx deficient mice with an
RT   increased neuronal cell number in vesical ganglia.";
RL   J. Urol. 165:993-998(2001).
RN   [7]
RP   DISRUPTION PHENOTYPE.
RX   PubMed=15185227; DOI=10.1016/j.jpedsurg.2004.02.004;
RA   Yanai T., Kobayashi H., Yamataka A., Lane G.J., Miyano T., Hayakawa T.,
RA   Satoh K., Kase Y., Hatano M.;
RT   "Acetylcholine-related bowel dysmotility in homozygous mutant NCX/HOX11L.1-
RT   deficient (NCX-/-) mice-evidence that acetylcholine is implicated in
RT   causing intestinal neuronal dysplasia.";
RL   J. Pediatr. Surg. 39:927-930(2004).
RN   [8]
RP   DISRUPTION PHENOTYPE.
RX   PubMed=15803212; DOI=10.1007/s10024-005-1126-0;
RA   Kapur R.P., Clarke C.M., Doggett B., Taylor B.E., Baldessari A.,
RA   Parisi M.A., Howe D.G.;
RT   "Hox11L1 expression by precursors of enteric smooth muscle: an alternative
RT   explanation for megacecum in HOX11L1-/- mice.";
RL   Pediatr. Dev. Pathol. 8:148-161(2005).
RN   [9]
RP   DISRUPTION PHENOTYPE, AND FUNCTION.
RX   PubMed=17560225; DOI=10.1016/j.jpedsurg.2007.01.064;
RA   Aoki T., Jusuf A.A., Iitsuka Y., Isono K., Tokuhisa T., Hatano M.;
RT   "Ncx (Enx, Hox11L.1) is required for neuronal cell death in enteric ganglia
RT   of mice.";
RL   J. Pediatr. Surg. 42:1081-1088(2007).
RN   [10]
RP   DISRUPTION PHENOTYPE, AND FUNCTION.
RX   PubMed=19697050; DOI=10.1007/s00383-009-2451-6;
RA   Kato Y., Miyahara K., Hatano M., Hasegawa Y., Seki T., Frykman P.K.,
RA   Kusafuka J., Lane G.J., Yamataka A.;
RT   "Immature enteric neurons in Ncx/Hox11L.1 deficient intestinal neuronal
RT   dysplasia model mice.";
RL   Pediatr. Surg. Int. 25:961-965(2009).
CC   -!- FUNCTION: Transcription activator that binds DNA elements with the
CC       consensus sequence 5'-CGGTAATTGG-3'. Binds DNA via its homeobox.
CC       Required for normal cell death of enteric neurons in the
CC       gastrointestinal tract. Required for normal development of the enteric
CC       nervous system, and for proper development of normal motility of the
CC       gastrointestinal tract. {ECO:0000269|PubMed:10869550,
CC       ECO:0000269|PubMed:17560225, ECO:0000269|PubMed:19697050}.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC   -!- DEVELOPMENTAL STAGE: Detected in cranial ganglia at 9 dpc, and in
CC       dorsal root ganglia by 10.5 dpc. First detected in gut at 11.5 dpc,
CC       with a marked increase by 12.5 dpc. After birth, detected in myenteric
CC       and submucosal neurons innervating the distal ileum, colon and rectum.
CC       {ECO:0000269|PubMed:9176491}.
CC   -!- DISRUPTION PHENOTYPE: Mice are born at the expected Mendelian ratio and
CC       show no visible phenotype at birth. After weaning, about 43% of the
CC       mice exhibit distended abdomens and growth retardation, the others
CC       remain symptomless. About 36% of the mice die between 3 and 6 weeks
CC       after birth. Affected mice display distended proximal colons and
CC       cecums. Both affected and asymptotic mice have increased numbers of
CC       myenteric neurons in ganglia in the proximal and distal colon with a
CC       concomitant increase in myenteric ganglion size. In the urinary system,
CC       mice exhibit increased numbers of NADPH diaphorase positive neuronal
CC       cells in the vesical ganglia, and concomitant vesicourethral sphincter
CC       muscle dysfunction. {ECO:0000269|PubMed:11176528,
CC       ECO:0000269|PubMed:15185227, ECO:0000269|PubMed:15803212,
CC       ECO:0000269|PubMed:17560225, ECO:0000269|PubMed:19697050,
CC       ECO:0000269|PubMed:9176491}.
CC   -!- CAUTION: Was originally thought to be the ortholog of human HOX11.
CC       {ECO:0000305|PubMed:1681546}.
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DR   EMBL; M75953; AAA37805.1; -; mRNA.
DR   EMBL; CH466523; EDK99055.1; -; Genomic_DNA.
DR   EMBL; BC138240; AAI38241.1; -; mRNA.
DR   EMBL; BC138241; AAI38242.1; -; mRNA.
DR   CCDS; CCDS20269.1; -.
DR   PIR; B41224; B41224.
DR   RefSeq; NP_033418.1; NM_009392.2.
DR   AlphaFoldDB; Q61663; -.
DR   SMR; Q61663; -.
DR   STRING; 10090.ENSMUSP00000087069; -.
DR   iPTMnet; Q61663; -.
DR   PhosphoSitePlus; Q61663; -.
DR   PaxDb; Q61663; -.
DR   PRIDE; Q61663; -.
DR   Antibodypedia; 16736; 74 antibodies from 21 providers.
DR   DNASU; 21909; -.
DR   Ensembl; ENSMUST00000089641; ENSMUSP00000087069; ENSMUSG00000068327.
DR   GeneID; 21909; -.
DR   KEGG; mmu:21909; -.
DR   UCSC; uc009cme.1; mouse.
DR   CTD; 3196; -.
DR   MGI; MGI:1350935; Tlx2.
DR   VEuPathDB; HostDB:ENSMUSG00000068327; -.
DR   eggNOG; KOG0488; Eukaryota.
DR   GeneTree; ENSGT00940000162452; -.
DR   HOGENOM; CLU_053409_1_0_1; -.
DR   InParanoid; Q61663; -.
DR   OMA; QGHGEST; -.
DR   OrthoDB; 1391465at2759; -.
DR   PhylomeDB; Q61663; -.
DR   TreeFam; TF325347; -.
DR   BioGRID-ORCS; 21909; 4 hits in 74 CRISPR screens.
DR   PRO; PR:Q61663; -.
DR   Proteomes; UP000000589; Chromosome 6.
DR   RNAct; Q61663; protein.
DR   Bgee; ENSMUSG00000068327; Expressed in lumbar dorsal root ganglion and 47 other tissues.
DR   ExpressionAtlas; Q61663; baseline and differential.
DR   Genevisible; Q61663; MM.
DR   GO; GO:0005737; C:cytoplasm; IDA:MGI.
DR   GO; GO:0005634; C:nucleus; IDA:MGI.
DR   GO; GO:0003677; F:DNA binding; ISA:MGI.
DR   GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; ISO:MGI.
DR   GO; GO:0003700; F:DNA-binding transcription factor activity; ISA:MGI.
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; IBA:GO_Central.
DR   GO; GO:0043565; F:sequence-specific DNA binding; ISO:MGI.
DR   GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR   GO; GO:0048513; P:animal organ development; IBA:GO_Central.
DR   GO; GO:0048484; P:enteric nervous system development; IMP:MGI.
DR   GO; GO:0001707; P:mesoderm formation; IMP:MGI.
DR   GO; GO:0050774; P:negative regulation of dendrite morphogenesis; IDA:MGI.
DR   GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISO:MGI.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; ISA:MGI.
DR   CDD; cd00086; homeodomain; 1.
DR   InterPro; IPR009057; Homeobox-like_sf.
DR   InterPro; IPR017970; Homeobox_CS.
DR   InterPro; IPR001356; Homeobox_dom.
DR   InterPro; IPR020479; Homeobox_metazoa.
DR   InterPro; IPR042247; TLX1/2/3.
DR   PANTHER; PTHR45921; PTHR45921; 1.
DR   Pfam; PF00046; Homeodomain; 1.
DR   PRINTS; PR00024; HOMEOBOX.
DR   SMART; SM00389; HOX; 1.
DR   SUPFAM; SSF46689; SSF46689; 1.
DR   PROSITE; PS00027; HOMEOBOX_1; 1.
DR   PROSITE; PS50071; HOMEOBOX_2; 1.
PE   2: Evidence at transcript level;
KW   Activator; Developmental protein; DNA-binding; Homeobox; Nucleus;
KW   Reference proteome; Transcription; Transcription regulation.
FT   CHAIN           1..284
FT                   /note="T-cell leukemia homeobox protein 2"
FT                   /id="PRO_0000049337"
FT   DNA_BIND        157..216
FT                   /note="Homeobox"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT   REGION          20..52
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          78..104
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          140..166
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        86..100
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   284 AA;  30361 MW;  CD1D6D3EB0F8CBDA CRC64;
     MEPAVLAAHH LPHHEPISFG IDQILSGPEP PGGGLGPGQS GQSHGESAAF SSGFHGASGY
     APAGSLASLP RGSGVGPGGV IRVPAHRPLP VPPPSGAAPA VPGPSGLGGA GGLAGLTFPW
     MDSGRRFAKD RLTAALSPFS GTRRIGHPYQ NRTPPKRKKP RTSFSRSQVL ELERRFLRQK
     YLASAERAAL AKALRMTDAQ VKTWFQNRRT KWRRQTAEER EAERHRAGRL LLHLQQDALP
     RPLRPPLPPD PLCLHNSSLF ALQNLQPWAE DNKVASVSGL ASVV
 
 
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