Q04743 (EMX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein EMX2

Alternative name(s):
Empty spiracles homolog 2
Empty spiracles-like protein 2

Gene names

Name:

EMX2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	252 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterior/posterior pattern specification Inferred from electronic annotation. Source: Compara cell proliferation in forebrain Inferred from electronic annotation. Source: Compara cerebral cortex regionalization Inferred from electronic annotation. Source: Compara dentate gyrus development Inferred from electronic annotation. Source: Compara forebrain cell migration Inferred from electronic annotation. Source: Compara multicellular organismal development Non-traceable author statement. Source: UniProtKB neuron differentiation Inferred from electronic annotation. Source: Compara renal system development Inferred from electronic annotation. Source: Compara response to drug Inferred from electronic annotation. Source: Compara
Cellular_component	nucleus Non-traceable author statement. Source: UniProtKB
Molecular_function	DNA binding Non-traceable author statement. Source: UniProtKB sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro transcription regulatory region sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
EIF4E	P06730	4	EBI-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 252	252	Homeobox protein EMX2		PRO_0000048868
Regions
	DNA binding	154 – 213	60	Homeobox
	Compositional bias	54 – 59	6	Poly-Ala
Natural variations
	Alternative sequence	137 – 252	116	NDTSP…VTSDD → KSMVSEPKNKVQKAEAGGRR LRFATKEKRDAPY in isoform 2.		VSP_045823
Experimental info
	Sequence conflict	104	1	S → P in BAB70842. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 18, 2001. Version 2. Checksum: 90DAEFFC893A971C	FASTA	252	28,303
	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
	Isoform 2 [UniParc]. Checksum: 5B4AF89152A35D6F	FASTA	169	18,518
	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 PWLIHRYRYL GHRFQGKSMV SEPKNKVQKA EAGGRRLRFA TKEKRDAPY

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
+	Additional computationally mapped references.

Web resources

GeneReviews

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.
IPI	IPI00029166.
PIR	S22722.
RefSeq	NP_001159396.1. NM_001165924.1. NP_004089.1. NM_004098.3.
UniGene	Hs.202095.
3D structure databases
ProteinModelPortal	Q04743.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q04743. 1 interaction.
STRING	9606.ENSP00000358202.
PTM databases
PhosphoSite	Q04743.
Polymorphism databases
DMDM	19862512.
Proteomic databases
PaxDb	Q04743.
PRIDE	Q04743.
Protocols and materials databases
DNASU	2018.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000369201; ENSP00000358202; ENSG00000170370. ENST00000553456; ENSP00000450962; ENSG00000170370.
GeneID	2018.
KEGG	hsa:2018.
UCSC	uc001ldh.4. human.
Organism-specific databases
CTD	2018.
GeneCards	GC10P119291.
HGNC	HGNC:3341. EMX2.
MIM	269160. phenotype. 600035. gene.
neXtProt	NX_Q04743.
Orphanet	799. Schizencephaly.
PharmGKB	PA27778.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG264928.
HOGENOM	HOG000247032.
HOVERGEN	HBG005024.
InParanoid	Q04743.
KO	K09317.
OMA	QMNPFLN.
OrthoDB	EOG4BP1CQ.
PhylomeDB	Q04743.
Gene expression databases
ArrayExpress	Q04743.
Bgee	Q04743.
CleanEx	HS_EMX2.
Genevestigator	Q04743.
GermOnline	ENSG00000170370. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR000047. HTH_motif. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX. PR00031. HTHREPRESSR.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	2018.
NextBio	8177.
SOURCE	Search...

Entry information

Entry name

EMX2_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 126 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.