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Q04743 (EMX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein EMX2
Alternative name(s):
Empty spiracles homolog 2
Empty spiracles-like protein 2
Gene names
Name:EMX2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length252 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Nucleus Probable.

Tissue specificity

Cerebral cortex.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the EMX homeobox family.

Contains 1 homeobox DNA-binding domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

EIF4EP067304EBI-399831,EBI-73440

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q04743-1)

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.
Isoform 2 (identifier: Q04743-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 252252Homeobox protein EMX2
PRO_0000048868

Regions

DNA binding154 – 21360Homeobox
Compositional bias54 – 596Poly-Ala

Natural variations

Alternative sequence137 – 252116NDTSP…VTSDD → KSMVSEPKNKVQKAEAGGRR LRFATKEKRDAPY in isoform 2.
VSP_045823

Experimental info

Sequence conflict1041S → P in BAB70842. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 18, 2001. Version 2.
Checksum: 90DAEFFC893A971C

FASTA25228,303
        10         20         30         40         50         60 
MFQPAPKRCF TIESLVAKDS PLPASRSEDP IRPAALSYAN SSPINPFLNG FHSAAAAAAG 

        70         80         90        100        110        120 
RGVYSNPDLV FAEAVSHPPN PAVPVHPVPP PHALAAHPLP SSHSPHPLFA SQQRDPSTFY 

       130        140        150        160        170        180 
PWLIHRYRYL GHRFQGNDTS PESFLLHNAL ARKPKRIRTA FSPSQLLRLE HAFEKNHYVV 

       190        200        210        220        230        240 
GAERKQLAHS LSLTETQVKV WFQNRRTKFK RQKLEEEGSD SQQKKKGTHH INRWRIATKQ 

       250 
ASPEEIDVTS DD 

« Hide

Isoform 2 [UniParc].

Checksum: 5B4AF89152A35D6F
Show »

FASTA16918,518

References

« Hide 'large scale' references
[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]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRS22722.
RefSeqNP_001159396.1. NM_001165924.1.
NP_004089.1. NM_004098.3.
UniGeneHs.202095.

3D structure databases

ProteinModelPortalQ04743.
SMRQ04743. Positions 128-216.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108333. 3 interactions.
IntActQ04743. 1 interaction.
STRING9606.ENSP00000358202.

PTM databases

PhosphoSiteQ04743.

Polymorphism databases

DMDM19862512.

Proteomic databases

PaxDbQ04743.
PRIDEQ04743.

Protocols and materials databases

DNASU2018.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000442245; ENSP00000474874; ENSG00000170370. [Q04743-2]
ENST00000553456; ENSP00000450962; ENSG00000170370. [Q04743-1]
GeneID2018.
KEGGhsa:2018.
UCSCuc001ldh.4. human. [Q04743-1]
uc001ldi.4. human.

Organism-specific databases

CTD2018.
GeneCardsGC10P119291.
HGNCHGNC:3341. EMX2.
MIM269160. phenotype.
600035. gene.
neXtProtNX_Q04743.
Orphanet799. Schizencephaly.
PharmGKBPA27778.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG264928.
HOGENOMHOG000247032.
HOVERGENHBG005024.
InParanoidQ04743.
KOK09317.
OMAGQMNPFL.
OrthoDBEOG7XDBJW.
PhylomeDBQ04743.
TreeFamTF317015.

Gene expression databases

BgeeQ04743.
CleanExHS_EMX2.
GenevestigatorQ04743.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiEMX2.
GenomeRNAi2018.
NextBio8177.
PROQ04743.
SOURCESearch...

Entry information

Entry nameEMX2_HUMAN
AccessionPrimary (citable) accession number: Q04743
Secondary accession number(s): G3V305, Q96NN8, Q9BQF4
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: October 18, 2001
Last modified: March 19, 2014
This is version 133 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM