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Q04743

- EMX2_HUMAN

UniProt

Q04743 - EMX2_HUMAN

Protein

Homeobox protein EMX2

Gene

EMX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 2 (18 Oct 2001)
      Previous versions | rss
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    Functioni

    Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi154 – 21360HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. sequence-specific DNA binding transcription factor activity Source: InterPro
    3. transcription regulatory region sequence-specific DNA binding Source: InterPro

    GO - Biological processi

    1. anterior/posterior pattern specification Source: Ensembl
    2. cell proliferation in forebrain Source: Ensembl
    3. cerebral cortex regionalization Source: Ensembl
    4. dentate gyrus development Source: Ensembl
    5. forebrain cell migration Source: Ensembl
    6. neuron differentiation Source: Ensembl
    7. renal system development Source: Ensembl
    8. response to drug Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein EMX2
    Alternative name(s):
    Empty spiracles homolog 2
    Empty spiracles-like protein 2
    Gene namesi
    Name:EMX2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:3341. EMX2.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Schizencephaly (SCHZC) [MIM:269160]: Extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi269160. phenotype.
    Orphaneti799. Schizencephaly.
    PharmGKBiPA27778.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 252252Homeobox protein EMX2PRO_0000048868Add
    BLAST

    Proteomic databases

    PaxDbiQ04743.
    PRIDEiQ04743.

    PTM databases

    PhosphoSiteiQ04743.

    Expressioni

    Tissue specificityi

    Cerebral cortex.

    Gene expression databases

    BgeeiQ04743.
    CleanExiHS_EMX2.
    GenevestigatoriQ04743.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    EIF4EP067304EBI-399831,EBI-73440

    Protein-protein interaction databases

    BioGridi108333. 3 interactions.
    IntActiQ04743. 1 interaction.
    STRINGi9606.ENSP00000358202.

    Structurei

    3D structure databases

    ProteinModelPortaliQ04743.
    SMRiQ04743. Positions 128-216.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi54 – 596Poly-Ala

    Sequence similaritiesi

    Belongs to the EMX homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG264928.
    HOGENOMiHOG000247032.
    HOVERGENiHBG005024.
    InParanoidiQ04743.
    KOiK09317.
    OMAiGQMNPFL.
    OrthoDBiEOG7XDBJW.
    PhylomeDBiQ04743.
    TreeFamiTF317015.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00024. HOMEOBOX.
    PR00031. HTHREPRESSR.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q04743-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MFQPAPKRCF TIESLVAKDS PLPASRSEDP IRPAALSYAN SSPINPFLNG    50
    FHSAAAAAAG RGVYSNPDLV FAEAVSHPPN PAVPVHPVPP PHALAAHPLP 100
    SSHSPHPLFA SQQRDPSTFY PWLIHRYRYL GHRFQGNDTS PESFLLHNAL 150
    ARKPKRIRTA FSPSQLLRLE HAFEKNHYVV GAERKQLAHS LSLTETQVKV 200
    WFQNRRTKFK RQKLEEEGSD SQQKKKGTHH INRWRIATKQ ASPEEIDVTS 250
    DD 252
    Length:252
    Mass (Da):28,303
    Last modified:October 18, 2001 - v2
    Checksum:i90DAEFFC893A971C
    GO
    Isoform 2 (identifier: Q04743-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         137-252: NDTSPESFLL...PEEIDVTSDD → KSMVSEPKNKVQKAEAGGRRLRFATKEKRDAPY

    Show »
    Length:169
    Mass (Da):18,518
    Checksum:i5B4AF89152A35D6F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti104 – 1041S → P in BAB70842. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei137 – 252116NDTSP…VTSDD → KSMVSEPKNKVQKAEAGGRR LRFATKEKRDAPY in isoform 2. CuratedVSP_045823Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF301598 mRNA. Translation: AAK95496.1.
    AL161811 mRNA. Translation: CAB82104.1.
    AK055041 mRNA. Translation: BAB70842.1.
    AC005871 Genomic DNA. No translation available.
    X68880 mRNA. Translation: CAA48751.1.
    CCDSiCCDS53583.1. [Q04743-2]
    CCDS7601.1. [Q04743-1]
    PIRiS22722.
    RefSeqiNP_001159396.1. NM_001165924.1. [Q04743-2]
    NP_004089.1. NM_004098.3. [Q04743-1]
    UniGeneiHs.202095.

    Genome annotation databases

    EnsembliENST00000442245; ENSP00000474874; ENSG00000170370. [Q04743-2]
    ENST00000553456; ENSP00000450962; ENSG00000170370. [Q04743-1]
    GeneIDi2018.
    KEGGihsa:2018.
    UCSCiuc001ldh.4. human. [Q04743-1]
    uc001ldi.4. human.

    Polymorphism databases

    DMDMi19862512.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF301598 mRNA. Translation: AAK95496.1 .
    AL161811 mRNA. Translation: CAB82104.1 .
    AK055041 mRNA. Translation: BAB70842.1 .
    AC005871 Genomic DNA. No translation available.
    X68880 mRNA. Translation: CAA48751.1 .
    CCDSi CCDS53583.1. [Q04743-2 ]
    CCDS7601.1. [Q04743-1 ]
    PIRi S22722.
    RefSeqi NP_001159396.1. NM_001165924.1. [Q04743-2 ]
    NP_004089.1. NM_004098.3. [Q04743-1 ]
    UniGenei Hs.202095.

    3D structure databases

    ProteinModelPortali Q04743.
    SMRi Q04743. Positions 128-216.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108333. 3 interactions.
    IntActi Q04743. 1 interaction.
    STRINGi 9606.ENSP00000358202.

    PTM databases

    PhosphoSitei Q04743.

    Polymorphism databases

    DMDMi 19862512.

    Proteomic databases

    PaxDbi Q04743.
    PRIDEi Q04743.

    Protocols and materials databases

    DNASUi 2018.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000442245 ; ENSP00000474874 ; ENSG00000170370 . [Q04743-2 ]
    ENST00000553456 ; ENSP00000450962 ; ENSG00000170370 . [Q04743-1 ]
    GeneIDi 2018.
    KEGGi hsa:2018.
    UCSCi uc001ldh.4. human. [Q04743-1 ]
    uc001ldi.4. human.

    Organism-specific databases

    CTDi 2018.
    GeneCardsi GC10P119291.
    HGNCi HGNC:3341. EMX2.
    MIMi 269160. phenotype.
    600035. gene.
    neXtProti NX_Q04743.
    Orphaneti 799. Schizencephaly.
    PharmGKBi PA27778.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG264928.
    HOGENOMi HOG000247032.
    HOVERGENi HBG005024.
    InParanoidi Q04743.
    KOi K09317.
    OMAi GQMNPFL.
    OrthoDBi EOG7XDBJW.
    PhylomeDBi Q04743.
    TreeFami TF317015.

    Miscellaneous databases

    GeneWikii EMX2.
    GenomeRNAii 2018.
    NextBioi 8177.
    PROi Q04743.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q04743.
    CleanExi HS_EMX2.
    Genevestigatori Q04743.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    PR00031. HTHREPRESSR.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of the homeodomain gene EMX2: sequence conservation, expression analysis and a search for mutations in endometrial cancers."
      Noonan F.C., Mutch D.G., Mallon M., Goodfellow P.J.
      Genomics 76:37-44(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Amygdala.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    4. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex."
      Simeone A., Gulisano M., Acampora D., Stornaiuolo A., Rambaldi M., Boncinelli E.
      EMBO J. 11:2541-2550(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 95-252 (ISOFORM 1).
    6. "Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly."
      Brunelli S., Faiella A., Capra V., Nigro V., Simeone A., Cama A., Boncinelli E.
      Nat. Genet. 12:94-96(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SCHZC.

    Entry informationi

    Entry nameiEMX2_HUMAN
    AccessioniPrimary (citable) accession number: Q04743
    Secondary accession number(s): G3V305, Q96NN8, Q9BQF4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1995
    Last sequence update: October 18, 2001
    Last modified: October 1, 2014
    This is version 137 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3