HMX2_MOUSE
ID HMX2_MOUSE Reviewed; 273 AA.
AC P43687; Q3UUN6; Q8R1Q2;
DT 01-NOV-1995, integrated into UniProtKB/Swiss-Prot.
DT 10-JAN-2003, sequence version 3.
DT 03-AUG-2022, entry version 160.
DE RecName: Full=Homeobox protein HMX2;
DE AltName: Full=Homeobox protein Nkx-5.2;
GN Name=Hmx2; Synonyms=Nkx-5.2, Nkx5-2;
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=8541222; DOI=10.1016/0925-4773(95)00414-v;
RA Rinkwitz-Brandt S., Justus M., Oldenettel I., Arnold H.-H., Bober E.;
RT "Distinct temporal expression of mouse Nkx-5.1 and Nkx-5.2 homeobox genes
RT during brain and ear development.";
RL Mech. Dev. 52:371-381(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Hypothalamus;
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].
RC TISSUE=Kidney;
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 NUCLEOTIDE SEQUENCE [MRNA] OF 113-268.
RC STRAIN=ICR X Swiss Webster; TISSUE=Embryo;
RX PubMed=7510254; DOI=10.1006/dbio.1994.1086;
RA Bober E., Baum C., Braun T., Arnold H.-H.;
RT "A novel NK-related mouse homeobox gene: expression in central and
RT peripheral nervous structures during embryonic development.";
RL Dev. Biol. 162:288-303(1994).
RN [5]
RP FUNCTION, TISSUE SPECIFICITY, AND DISRUPTION PHENOTYPE.
RX PubMed=11748138; DOI=10.1242/dev.128.24.5017;
RA Wang W., Chan E.K., Baron S., Van de Water T., Lufkin T.;
RT "Hmx2 homeobox gene control of murine vestibular morphogenesis.";
RL Development 128:5017-5029(2001).
RN [6]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=15363417; DOI=10.1016/j.devcel.2004.06.016;
RA Wang W., Grimmer J.F., Van De Water T.R., Lufkin T.;
RT "Hmx2 and Hmx3 homeobox genes direct development of the murine inner ear
RT and hypothalamus and can be functionally replaced by Drosophila Hmx.";
RL Dev. Cell 7:439-453(2004).
CC -!- FUNCTION: Transcription factor involved in specification of neuronal
CC cell types and which is required for inner ear and hypothalamus
CC development. {ECO:0000269|PubMed:11748138,
CC ECO:0000269|PubMed:15363417}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed in the developing CNS, including a
CC specific expression in vestibular structures throughout inner ear
CC development. {ECO:0000269|PubMed:11748138}.
CC -!- DEVELOPMENTAL STAGE: It is expressed in neuronal and neuroepithelial
CC cells during development of the CNS and PNS.
CC -!- DISRUPTION PHENOTYPE: Mice display a perturbation in cell fate
CC determination in the lateral aspect of the otic epithelium results in
CC reduced cell proliferation in epithelial cells, which includes the
CC vestibular sensory patches and semicircular duct fusion plates, as well
CC as in the adjacent mesenchyme. Consequently, enlargement and
CC morphogenesis of the pars superior of the otocyst to form a complex
CC labyrinth of cavities and ducts is blocked, as indicated by the lack of
CC any distinguishable semicircular ducts, persistence of the primordial
CC vestibular diverticula, significant loss in the 3 cristae and the
CC macula utriculus, and a fused utriculosaccular chamber. Mice lacking
CC both Hmx2 and Hmx3 show a complete loss of balance, postnatal dwarfism,
CC defects in neuroendocrine system, disturbed hypothalamic-pituitary axis
CC and subsequent die. Defects caused in mice lacking both Hmx2 and Hmx3
CC can be rescued by expressing the Drosophila Hmx protein.
CC {ECO:0000269|PubMed:11748138, ECO:0000269|PubMed:15363417}.
CC -!- SIMILARITY: Belongs to the HMX homeobox family. {ECO:0000305}.
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; S80989; AAB35877.2; -; mRNA.
DR EMBL; AK138228; BAE23589.1; -; mRNA.
DR EMBL; BC023402; AAH23402.1; -; mRNA.
DR CCDS; CCDS21918.1; -.
DR RefSeq; NP_666110.1; NM_145998.3.
DR RefSeq; XP_006507440.1; XM_006507377.2.
DR AlphaFoldDB; P43687; -.
DR SMR; P43687; -.
DR STRING; 10090.ENSMUSP00000058205; -.
DR iPTMnet; P43687; -.
DR PhosphoSitePlus; P43687; -.
DR PaxDb; P43687; -.
DR PRIDE; P43687; -.
DR Antibodypedia; 32344; 179 antibodies from 27 providers.
DR DNASU; 15372; -.
DR Ensembl; ENSMUST00000051997; ENSMUSP00000058205; ENSMUSG00000050100.
DR Ensembl; ENSMUST00000183219; ENSMUSP00000138799; ENSMUSG00000050100.
DR GeneID; 15372; -.
DR KEGG; mmu:15372; -.
DR UCSC; uc009kbp.1; mouse.
DR CTD; 3167; -.
DR MGI; MGI:107159; Hmx2.
DR VEuPathDB; HostDB:ENSMUSG00000050100; -.
DR eggNOG; KOG0485; Eukaryota.
DR GeneTree; ENSGT00940000160392; -.
DR HOGENOM; CLU_064096_1_0_1; -.
DR InParanoid; P43687; -.
DR OMA; CTQHQAH; -.
DR OrthoDB; 1313583at2759; -.
DR PhylomeDB; P43687; -.
DR TreeFam; TF320562; -.
DR BioGRID-ORCS; 15372; 3 hits in 73 CRISPR screens.
DR PRO; PR:P43687; -.
DR Proteomes; UP000000589; Chromosome 7.
DR RNAct; P43687; protein.
DR Bgee; ENSMUSG00000050100; Expressed in female urethra and 47 other tissues.
DR Genevisible; P43687; MM.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0007420; P:brain development; IGI:MGI.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0008283; P:cell population proliferation; IMP:MGI.
DR GO; GO:0050673; P:epithelial cell proliferation; IMP:MGI.
DR GO; GO:0042472; P:inner ear morphogenesis; IMP:MGI.
DR GO; GO:0050679; P:positive regulation of epithelial cell proliferation; IMP:MGI.
DR GO; GO:0048026; P:positive regulation of mRNA splicing, via spliceosome; IMP:MGI.
DR GO; GO:2000648; P:positive regulation of stem cell proliferation; IMP:MGI.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0072089; P:stem cell proliferation; IMP: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 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 Developmental protein; Differentiation; DNA-binding; Homeobox;
KW Neurogenesis; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..273
FT /note="Homeobox protein HMX2"
FT /id="PRO_0000048950"
FT DNA_BIND 149..208
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..154
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 1..57
FT /note="MGSKEDVGKGCPAAGGVSSFTIQSILGGGPSEAPREPAGWPARKRSLSVSSE
FT EEEPE -> LGRSWFPPISYEPRMAARKMWGRDVRRPVASPASPSSPSWAGALRGTAGA
FT RRVASQETQPVCVLGGGGAG (in Ref. 1; AAB35877)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 273 AA; 29634 MW; 19F9F0E1A92A5644 CRC64;
MGSKEDVGKG CPAAGGVSSF TIQSILGGGP SEAPREPAGW PARKRSLSVS SEEEEPEEGW
KAPACFCPDP HGPKEPSPKH HTPIPFPCLG TPKGSGGAGP AASERTPFLS PSHPDFKEEK
ERLLPAGSPS PGPERPRDGG AERQTGAAKK KTRTVFSRSQ VYQLESTFDM KRYLSSSERA
CLASSLQLTE TQVKTWFQNR RNKWKRQLSA ELEAANMAHA SAQTLVGMPL VFRDSSLLRV
PVPRSLAFPA PLYYPSSNLS ALPLYNLYNK LDY
