EMX2_HUMAN
ID EMX2_HUMAN Reviewed; 252 AA.
AC Q04743; G3V305; Q96NN8; Q9BQF4;
DT 01-FEB-1995, integrated into UniProtKB/Swiss-Prot.
DT 18-OCT-2001, sequence version 2.
DT 03-AUG-2022, entry version 194.
DE RecName: Full=Homeobox protein EMX2;
DE AltName: Full=Empty spiracles homolog 2;
DE AltName: Full=Empty spiracles-like protein 2;
GN Name=EMX2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=11549315; DOI=10.1006/geno.2001.6590;
RA Noonan F.C., Mutch D.G., Mallon M., Goodfellow P.J.;
RT "Characterization of the homeodomain gene EMX2: sequence conservation,
RT expression analysis and a search for mutations in endometrial cancers.";
RL Genomics 76:37-44(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Amygdala;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 95-252 (ISOFORM 1).
RX PubMed=1352754; DOI=10.1002/j.1460-2075.1992.tb05319.x;
RA Simeone A., Gulisano M., Acampora D., Stornaiuolo A., Rambaldi M.,
RA Boncinelli E.;
RT "Two vertebrate homeobox genes related to the Drosophila empty spiracles
RT gene are expressed in the embryonic cerebral cortex.";
RL EMBO J. 11:2541-2550(1992).
RN [6]
RP INVOLVEMENT IN SCHZC.
RX PubMed=8528262; DOI=10.1038/ng0196-94;
RA Brunelli S., Faiella A., Capra V., Nigro V., Simeone A., Cama A.,
RA Boncinelli E.;
RT "Germline mutations in the homeobox gene EMX2 in patients with severe
RT schizencephaly.";
RL Nat. Genet. 12:94-96(1996).
CC -!- FUNCTION: Transcription factor, which in cooperation with EMX2, acts to
CC generate the boundary between the roof and archipallium in the
CC developing brain. May function in combinations with OTX1/2 to specify
CC cell fates in the developing central nervous system.
CC -!- INTERACTION:
CC Q04743; P06730: EIF4E; NbExp=4; IntAct=EBI-399831, EBI-73440;
CC Q04743; Q7L8S5: OTUD6A; NbExp=3; IntAct=EBI-399831, EBI-11960139;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q04743-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q04743-2; Sequence=VSP_045823;
CC -!- TISSUE SPECIFICITY: Cerebral cortex.
CC -!- DISEASE: Schizencephaly (SCHZC) [MIM:269160]: Extremely rare human
CC congenital disorder characterized by a full-thickness cleft within the
CC cerebral hemispheres. These clefts are lined with gray matter and most
CC commonly involve the parasylvian regions. Large portions of the
CC cerebral hemispheres may be absent and replaced by cerebro-spinal
CC fluid. {ECO:0000269|PubMed:8528262}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the EMX homeobox family. {ECO:0000305}.
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DR EMBL; AF301598; AAK95496.1; -; mRNA.
DR EMBL; AL161811; CAB82104.1; -; mRNA.
DR EMBL; AK055041; BAB70842.1; -; mRNA.
DR EMBL; AC005871; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; X68880; CAA48751.1; -; mRNA.
DR CCDS; CCDS53583.1; -. [Q04743-2]
DR CCDS; CCDS7601.1; -. [Q04743-1]
DR PIR; S22722; S22722.
DR RefSeq; NP_001159396.1; NM_001165924.1. [Q04743-2]
DR RefSeq; NP_004089.1; NM_004098.3. [Q04743-1]
DR AlphaFoldDB; Q04743; -.
DR SMR; Q04743; -.
DR BioGRID; 108333; 33.
DR IntAct; Q04743; 11.
DR STRING; 9606.ENSP00000450962; -.
DR GlyGen; Q04743; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q04743; -.
DR PhosphoSitePlus; Q04743; -.
DR BioMuta; EMX2; -.
DR DMDM; 19862512; -.
DR MassIVE; Q04743; -.
DR PaxDb; Q04743; -.
DR PeptideAtlas; Q04743; -.
DR PRIDE; Q04743; -.
DR ProteomicsDB; 32794; -.
DR ProteomicsDB; 58277; -. [Q04743-1]
DR Antibodypedia; 18764; 342 antibodies from 32 providers.
DR DNASU; 2018; -.
DR Ensembl; ENST00000442245.5; ENSP00000474874.1; ENSG00000170370.12. [Q04743-2]
DR Ensembl; ENST00000553456.5; ENSP00000450962.3; ENSG00000170370.12. [Q04743-1]
DR GeneID; 2018; -.
DR KEGG; hsa:2018; -.
DR MANE-Select; ENST00000553456.5; ENSP00000450962.3; NM_004098.4; NP_004089.1.
DR UCSC; uc001ldh.5; human. [Q04743-1]
DR CTD; 2018; -.
DR DisGeNET; 2018; -.
DR GeneCards; EMX2; -.
DR HGNC; HGNC:3341; EMX2.
DR HPA; ENSG00000170370; Tissue enhanced (endometrium, epididymis).
DR MalaCards; EMX2; -.
DR MIM; 269160; phenotype.
DR MIM; 600035; gene.
DR neXtProt; NX_Q04743; -.
DR OpenTargets; ENSG00000170370; -.
DR Orphanet; 485275; Acquired schizencephaly.
DR PharmGKB; PA27778; -.
DR VEuPathDB; HostDB:ENSG00000170370; -.
DR eggNOG; KOG0843; Eukaryota.
DR GeneTree; ENSGT00940000157425; -.
DR HOGENOM; CLU_049668_1_0_1; -.
DR InParanoid; Q04743; -.
DR OMA; RWRMETQ; -.
DR OrthoDB; 1189098at2759; -.
DR PhylomeDB; Q04743; -.
DR TreeFam; TF317015; -.
DR PathwayCommons; Q04743; -.
DR SignaLink; Q04743; -.
DR SIGNOR; Q04743; -.
DR BioGRID-ORCS; 2018; 13 hits in 1088 CRISPR screens.
DR ChiTaRS; EMX2; human.
DR GeneWiki; EMX2; -.
DR GenomeRNAi; 2018; -.
DR Pharos; Q04743; Tbio.
DR PRO; PR:Q04743; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q04743; protein.
DR Bgee; ENSG00000170370; Expressed in corpus epididymis and 142 other tissues.
DR ExpressionAtlas; Q04743; baseline and differential.
DR Genevisible; Q04743; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IEA:Ensembl.
DR GO; GO:0007420; P:brain development; IBA:GO_Central.
DR GO; GO:0021846; P:cell proliferation in forebrain; IEA:Ensembl.
DR GO; GO:0007417; P:central nervous system development; IBA:GO_Central.
DR GO; GO:0021796; P:cerebral cortex regionalization; IEA:Ensembl.
DR GO; GO:0021542; P:dentate gyrus development; IEA:Ensembl.
DR GO; GO:0021885; P:forebrain cell migration; IEA:Ensembl.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0001764; P:neuron migration; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0009410; P:response to xenobiotic stimulus; IEA:Ensembl.
DR GO; GO:0072197; P:ureter morphogenesis; IEA:Ensembl.
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; IPR000047; HTH_motif.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR PRINTS; PR00031; HTHREPRESSR.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; DNA-binding; Homeobox;
KW Nucleus; Reference proteome.
FT CHAIN 1..252
FT /note="Homeobox protein EMX2"
FT /id="PRO_0000048868"
FT DNA_BIND 154..213
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 212..252
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 212..227
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 137..252
FT /note="NDTSPESFLLHNALARKPKRIRTAFSPSQLLRLEHAFEKNHYVVGAERKQLA
FT HSLSLTETQVKVWFQNRRTKFKRQKLEEEGSDSQQKKKGTHHINRWRIATKQASPEEID
FT VTSDD -> KSMVSEPKNKVQKAEAGGRRLRFATKEKRDAPY (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_045823"
FT CONFLICT 104
FT /note="S -> P (in Ref. 3; BAB70842)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 252 AA; 28303 MW; 90DAEFFC893A971C CRC64;
MFQPAPKRCF TIESLVAKDS PLPASRSEDP IRPAALSYAN SSPINPFLNG FHSAAAAAAG
RGVYSNPDLV FAEAVSHPPN PAVPVHPVPP PHALAAHPLP SSHSPHPLFA SQQRDPSTFY
PWLIHRYRYL GHRFQGNDTS PESFLLHNAL ARKPKRIRTA FSPSQLLRLE HAFEKNHYVV
GAERKQLAHS LSLTETQVKV WFQNRRTKFK RQKLEEEGSD SQQKKKGTHH INRWRIATKQ
ASPEEIDVTS DD
