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Q04743

- EMX2_HUMAN

UniProt

Q04743 - EMX2_HUMAN

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Protein

Homeobox protein EMX2

Gene

EMX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. 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. regulation of transcription, DNA-templated Source: InterPro
  8. renal system development Source: Ensembl
  9. response to drug Source: Ensembl
Complete GO annotation...

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-KW
Complete GO annotation...

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 152-211.
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.
GeneTreeiENSGT00760000119254.
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

        10         20         30         40         50
MFQPAPKRCF TIESLVAKDS PLPASRSEDP IRPAALSYAN SSPINPFLNG
60 70 80 90 100
FHSAAAAAAG RGVYSNPDLV FAEAVSHPPN PAVPVHPVPP PHALAAHPLP
110 120 130 140 150
SSHSPHPLFA SQQRDPSTFY PWLIHRYRYL GHRFQGNDTS PESFLLHNAL
160 170 180 190 200
ARKPKRIRTA FSPSQLLRLE HAFEKNHYVV GAERKQLAHS LSLTETQVKV
210 220 230 240 250
WFQNRRTKFK RQKLEEEGSD SQQKKKGTHH INRWRIATKQ ASPEEIDVTS

DD
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 152-211.
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.
GeneTreei ENSGT00760000119254.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 138 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