ID PITX2_MOUSE Reviewed; 317 AA. AC P97474; O08646; O70336; P97933; Q9JLA0; Q9QXB8; Q9R1V9; Q9Z141; DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot. DT 15-JUL-1999, sequence version 2. DT 20-APR-2010, entry version 97. DE RecName: Full=Pituitary homeobox 2; DE AltName: Full=Paired-like homeodomain transcription factor 2; DE AltName: Full=Homeobox protein PITX2; DE AltName: Full=Orthodenticle-like homeobox 2; DE AltName: Full=Solurshin; DE AltName: Full=ALL1-responsive protein ARP1; DE AltName: Full=BRX1 homeoprotein; DE AltName: Full=Paired-like homeodomain transcription factor Munc 30; GN Name=Pitx2; Synonyms=Arp1, Brx1, Otlx2, Ptx2, Rgs; OS Mus musculus (Mouse). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; OC Muroidea; Muridae; Murinae; Mus. OX NCBI_TaxID=10090; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM PTX2A). RA Mucchielli M.L., Martinez S., Pattyn A., Goridis C., Brunet J.-F.; RL Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases. RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PTX2A AND PTX2B). RC TISSUE=Pituitary; RX MEDLINE=97227292; PubMed=9147650; DOI=10.1093/hmg/6.3.457; RA Gage P.J., Camper S.A.; RT "Pituitary homeobox 2, a novel member of the bicoid-related family of RT homeobox genes, is a potential regulator of anterior structure RT formation."; RL Hum. Mol. Genet. 6:457-464(1997). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PTX2B AND PTX2C). RX MEDLINE=98006140; PubMed=9347917; DOI=10.1016/S0925-4773(97)00110-X; RA Kitamura K., Miura H., Yanazawa M., Miyashita T., Kato K.; RT "Expression patterns of Brx1 (Rieg gene), Sonic hedgehog, Nkx2.2, Dlx1 RT and Arx during zona limitans intrathalamica and embryonic ventral RT lateral geniculate nuclear formation."; RL Mech. Dev. 67:83-96(1997). RN [4] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PTX2A AND PTX2C). RX MEDLINE=98208582; PubMed=9539779; DOI=10.1073/pnas.95.8.4573; RA Arakawa H., Nakamura T., Zhadanov A.B., Fidanza Y., Yano T., RA Bullrich F., Shimizu M., Blechman J., Mazo A., Canaani E., Croce C.M.; RT "Identification and characterization of the ARP1 gene, a target for RT the human acute leukemia ALL1 gene."; RL Proc. Natl. Acad. Sci. U.S.A. 95:4573-4578(1998). RN [5] RP PARTIAL NUCLEOTIDE SEQUENCE (ISOFORM PTX2C). RX MEDLINE=20054091; PubMed=10585561; DOI=10.1016/S0925-4773(99)00227-0; RA Schweickert A., Campione M., Steinbeisser H., Blum M.; RT "Pitx2 isoforms: involvement of Pitx2c but not Pitx2a or Pitx2b in RT vertebrate left-right asymmetry."; RL Mech. Dev. 90:41-51(2000). RN [6] RP PARTIAL NUCLEOTIDE SEQUENCE (ISOFORM PTX2C). RX MEDLINE=21220725; PubMed=11319841; DOI=10.1006/cbir.2000.0638; RA Nicholson L.F.B., Ma L., Goulding M.; RT "Cloning and expression of Munc 30: a member of the paired-like RT homeodomain gene family."; RL Cell Biol. Int. 25:351-365(2001). RN [7] RP NUCLEOTIDE SEQUENCE [MRNA] OF 63-317. RC TISSUE=Embryonic carcinoma; RX MEDLINE=97099449; PubMed=8944018; DOI=10.1038/ng1296-392; RA Semina E.V., Reiter R., Leysens N.J., Alward W.L.M., Small K.W., RA Datson N.A., Siegle-Bartelt J., Bierke-Nelson D., Bitoun P., RA Zabel B.U., Carey J.C., Murray J.C.; RT "Cloning and characterization of a novel bicoid-related homeobox RT transcription factor gene, RIEG, involved in Rieger syndrome."; RL Nat. Genet. 14:392-399(1996). RN [8] RP ALTERNATIVE SPLICING (ISOFORM PITX2CALPHA) AND ALTERNATIVE INITIATION RP (ISOFORM PITX2CBETA). RA Lamba P., Hjalt T.A., Bernard D.J.; RT "Novel forms of paired-like homeodomain transcription factor 2 RT (PITX2): generation by alternative translation initiation and mRNA RT splicing."; RL Unpublished observations (JAN-2008). CC -!- FUNCTION: May play an important role in development and CC maintenance of anterior structures. Isoform Ptx2c is involved in CC left-right asymmetry in the developing embryo. CC -!- SUBCELLULAR LOCATION: Nucleus. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing, Alternative initiation; Named isoforms=5; CC Name=Ptx2B; Synonyms=ARP1B, BRX1B; CC IsoId=P97474-1; Sequence=Displayed; CC Name=Ptx2C; Synonyms=ARP1C, BRX1A; CC IsoId=P97474-2; Sequence=VSP_002262; CC Name=Ptx2A; Synonyms=ARP1A; CC IsoId=P97474-3; Sequence=VSP_002263; CC Name=Pitx2Calpha; CC IsoId=P97474-4; Sequence=VSP_031522; CC Name=Pitx2Cbeta; CC IsoId=P97474-5; Sequence=VSP_031521; CC Note=Produced by alternative initiation at Met-35 of isoform CC Ptx2C; CC -!- TISSUE SPECIFICITY: In day-11 embryos, expressed in the periocular CC mesenchyme, maxillary and mandibular epithelia, umbilicus, Rathke CC pouch, vitelline vessels and limb mesenchyme. In adult tissues, CC expressed in pituitary gland, brain, kidney, eye, lung, testis and CC tongue. CC -!- SIMILARITY: Belongs to the paired homeobox family. Bicoid CC subfamily. CC -!- SIMILARITY: Contains 1 homeobox DNA-binding domain. CC -!- SEQUENCE CAUTION: CC Sequence=AAF44618.1; Type=Erroneous initiation; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; U80036; AAB38505.1; -; mRNA. DR EMBL; U80010; AAC53119.1; -; mRNA. DR EMBL; U80011; AAC53120.1; -; mRNA. DR EMBL; AB006320; BAA75247.1; -; mRNA. DR EMBL; AB006321; BAA75248.1; -; mRNA. DR EMBL; AF048723; AAC40086.1; -; mRNA. DR EMBL; AF048724; AAC40087.1; -; mRNA. DR EMBL; AJ243597; CAB65259.1; -; mRNA. DR EMBL; AF201091; AAF44618.1; ALT_INIT; mRNA. DR EMBL; U70132; AAB38864.1; -; mRNA. DR IPI; IPI00125578; -. DR IPI; IPI00230555; -. DR IPI; IPI00230556; -. DR IPI; IPI00885427; -. DR IPI; IPI00885862; -. DR RefSeq; NP_001035967.1; -. DR RefSeq; NP_001035969.1; -. DR RefSeq; NP_035228.2; -. DR UniGene; Mm.246804; -. DR SMR; P97474; 85-144. DR IntAct; P97474; 1. DR STRING; P97474; -. DR PRIDE; P97474; -. DR Ensembl; ENSMUST00000029657; ENSMUSP00000029657; ENSMUSG00000028023; Mus musculus. DR Ensembl; ENSMUST00000042587; ENSMUSP00000047359; ENSMUSG00000028023; Mus musculus. DR Ensembl; ENSMUST00000106382; ENSMUSP00000101990; ENSMUSG00000028023; Mus musculus. DR GeneID; 18741; -. DR KEGG; mmu:18741; -. DR UCSC; uc008rhu.1; mouse. DR UCSC; uc008rhv.1; mouse. DR CTD; 18741; -. DR MGI; MGI:109340; Pitx2. DR eggNOG; roNOG14194; -. DR HOVERGEN; HBG068770; -. DR OMA; PLSSQTM; -. DR OrthoDB; EOG9N070G; -. DR NextBio; 294885; -. DR ArrayExpress; P97474; -. DR Bgee; P97474; -. DR CleanEx; MM_PITX2; -. DR Genevestigator; P97474; -. DR GermOnline; ENSMUSG00000028023; Mus musculus. DR GO; GO:0005667; C:transcription factor complex; IDA:MGI. DR GO; GO:0003682; F:chromatin binding; IDA:MGI. DR GO; GO:0005515; F:protein binding; IPI:MGI. DR GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro. DR GO; GO:0003700; F:transcription factor activity; IDA:MGI. DR GO; GO:0055009; P:atrial cardiac muscle tissue morphogenesis; IMP:MGI. DR GO; GO:0055007; P:cardiac muscle cell differentiation; IMP:MGI. DR GO; GO:0007368; P:determination of left/right symmetry; IMP:MGI. DR GO; GO:0055123; P:digestive system development; IMP:MGI. DR GO; GO:0031076; P:embryonic camera-type eye development; IMP:MGI. DR GO; GO:0035116; P:embryonic hindlimb morphogenesis; IGI:MGI. DR GO; GO:0002074; P:extraocular skeletal muscle development; IMP:MGI. DR GO; GO:0001701; P:in utero embryonic development; IMP:MGI. DR GO; GO:0060460; P:left lung morphogenesis; IMP:MGI. DR GO; GO:0042476; P:odontogenesis; IMP:MGI. DR GO; GO:0001569; P:patterning of blood vessels; IMP:MGI. DR GO; GO:0021983; P:pituitary gland development; IMP:MGI. DR GO; GO:0045944; P:positive regulation of transcription from R...; IDA:MGI. DR GO; GO:0003350; P:pulmonary myocardium development; IMP:MGI. DR GO; GO:0060577; P:pulmonary vein morphogenesis; IMP:MGI. DR GO; GO:0030334; P:regulation of cell migration; IMP:MGI. DR GO; GO:0042127; P:regulation of cell proliferation; IMP:MGI. DR GO; GO:0060578; P:superior vena cava morphogenesis; IMP:MGI. DR GO; GO:0001570; P:vasculogenesis; IMP:MGI. DR GO; GO:0016055; P:Wnt receptor signaling pathway; IDA:MGI. DR InterPro; IPR003654; Homeo_OAR. DR InterPro; IPR001356; Homeobox. DR InterPro; IPR017970; Homeobox_CS. DR InterPro; IPR016233; Homeobox_Pitx/unc30. DR InterPro; IPR009057; Homeodomain-like. DR InterPro; IPR012287; Homeodomain-rel. DR Gene3D; G3DSA:1.10.10.60; Homeodomain-rel; 1. DR Pfam; PF00046; Homeobox; 1. DR Pfam; PF03826; OAR; 1. DR PIRSF; PIRSF000563; Homeobox_protein_Pitx/Unc30; 1. DR SMART; SM00389; HOX; 1. DR SUPFAM; SSF46689; Homeodomain_like; 1. DR PROSITE; PS00027; HOMEOBOX_1; 1. DR PROSITE; PS50071; HOMEOBOX_2; 1. DR PROSITE; PS50803; OAR; 1. PE 2: Evidence at transcript level; KW Alternative initiation; Alternative splicing; Developmental protein; KW DNA-binding; Homeobox; Nucleus. FT CHAIN 1 317 Pituitary homeobox 2. FT /FTId=PRO_0000049224. FT DNA_BIND 85 144 Homeobox. FT MOTIF 279 292 OAR. FT MOTIF 285 289 Nuclear localization signal (Potential). FT VAR_SEQ 1 61 METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSP FT KSRKESASSKLFPRQHPGAN -> MASVLAPGQPRSLDSSK FT HRLEVHTISDTSSPEVA (in isoform FT Pitx2Cbeta). FT /FTId=VSP_031521. FT VAR_SEQ 1 61 METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSP FT KSRKESASSKLFPRQHPGAN -> MNCMKGPLPLEHRAAGT FT KLSAASSPFCHHPQALAMASVLAPGQPRSLDSSKHRLEVHT FT ISDTSSPEVA (in isoform Ptx2C). FT /FTId=VSP_002262. FT VAR_SEQ 16 61 Missing (in isoform Ptx2A). FT /FTId=VSP_002263. FT VAR_SEQ 16 28 Missing (in isoform Pitx2Calpha). FT /FTId=VSP_031522. FT CONFLICT 187 187 A -> T (in Ref. 3; BAA75247/BAA75248). SQ SEQUENCE 317 AA; 35321 MW; 188315708E6BD95D CRC64; METNCRKLVS ACVQLGVQPA AVECLFSKDS EIKKVEFTDS PKSRKESASS KLFPRQHPGA NEKDKGQQGK NEDVGAEDPS KKKRQRRQRT HFTSQQLQEL EATFQRNRYP DMSTREEIAV WTNLTEARVR VWFKNRRAKW RKRERNQQAE LCKNGFGPQF NGLMQPYDDM YPGYSYNNWA AKGLTSASLS TKSFPFFNSM NVNPLSSQSM FSPPNSISSM SMSSSMVPSA VTGVPGSSLN SLNNLNNLSS PSLNSAVPTP ACPYAPPTPP YVYRDTCNSS LASLRLKAKQ HSSFGYASVQ NPASNLSACQ YAVDRPV //