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Protein

Homeobox protein EMX2

Gene

EMX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi154 – 213HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding

Enzyme and pathway databases

SIGNORiQ04743

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
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000170370.11
HGNCiHGNC:3341 EMX2
MIMi600035 gene
neXtProtiNX_Q04743

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Schizencephaly (SCHZC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionExtremely 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.
See also OMIM:269160

Organism-specific databases

DisGeNETi2018
MalaCardsiEMX2
MIMi269160 phenotype
OpenTargetsiENSG00000170370
Orphaneti485275 Acquired schizencephaly
PharmGKBiPA27778

Polymorphism and mutation databases

BioMutaiEMX2
DMDMi19862512

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000488681 – 252Homeobox protein EMX2Add BLAST252

Proteomic databases

PaxDbiQ04743
PeptideAtlasiQ04743
PRIDEiQ04743
ProteomicsDBi58277

PTM databases

iPTMnetiQ04743
PhosphoSitePlusiQ04743

Expressioni

Tissue specificityi

Cerebral cortex.

Gene expression databases

BgeeiENSG00000170370 Expressed in 148 organ(s), highest expression level in caput epididymis
CleanExiHS_EMX2
ExpressionAtlasiQ04743 baseline and differential
GenevisibleiQ04743 HS

Organism-specific databases

HPAiHPA003497
HPA065294

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi108333, 3 interactors
IntActiQ04743, 2 interactors
STRINGi9606.ENSP00000358202

Structurei

3D structure databases

ProteinModelPortaliQ04743
SMRiQ04743
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi54 – 59Poly-Ala6

Sequence similaritiesi

Belongs to the EMX homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0843 Eukaryota
ENOG4111SRW LUCA
GeneTreeiENSGT00930000150864
HOGENOMiHOG000247032
HOVERGENiHBG005024
InParanoidiQ04743
KOiK09317
OMAiFQPTPKR
OrthoDBiEOG091G0P41
PhylomeDBiQ04743
TreeFamiTF317015

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
IPR000047 HTH_motif
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
PR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WWJ6A0A087WWJ6_HUMAN
Homeobox protein EMX2
EMX2
69Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti104S → P in BAB70842 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045823137 – 252NDTSP…VTSDD → KSMVSEPKNKVQKAEAGGRR LRFATKEKRDAPY in isoform 2. CuratedAdd BLAST116

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.5 human [Q04743-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliQ04743
SMRiQ04743
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108333, 3 interactors
IntActiQ04743, 2 interactors
STRINGi9606.ENSP00000358202

PTM databases

iPTMnetiQ04743
PhosphoSitePlusiQ04743

Polymorphism and mutation databases

BioMutaiEMX2
DMDMi19862512

Proteomic databases

PaxDbiQ04743
PeptideAtlasiQ04743
PRIDEiQ04743
ProteomicsDBi58277

Protocols and materials databases

DNASUi2018
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000442245; ENSP00000474874; ENSG00000170370 [Q04743-2]
ENST00000553456; ENSP00000450962; ENSG00000170370 [Q04743-1]
GeneIDi2018
KEGGihsa:2018
UCSCiuc001ldh.5 human [Q04743-1]

Organism-specific databases

CTDi2018
DisGeNETi2018
EuPathDBiHostDB:ENSG00000170370.11
GeneCardsiEMX2
HGNCiHGNC:3341 EMX2
HPAiHPA003497
HPA065294
MalaCardsiEMX2
MIMi269160 phenotype
600035 gene
neXtProtiNX_Q04743
OpenTargetsiENSG00000170370
Orphaneti485275 Acquired schizencephaly
PharmGKBiPA27778
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0843 Eukaryota
ENOG4111SRW LUCA
GeneTreeiENSGT00930000150864
HOGENOMiHOG000247032
HOVERGENiHBG005024
InParanoidiQ04743
KOiK09317
OMAiFQPTPKR
OrthoDBiEOG091G0P41
PhylomeDBiQ04743
TreeFamiTF317015

Enzyme and pathway databases

SIGNORiQ04743

Miscellaneous databases

GeneWikiiEMX2
GenomeRNAii2018
PROiPR:Q04743
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170370 Expressed in 148 organ(s), highest expression level in caput epididymis
CleanExiHS_EMX2
ExpressionAtlasiQ04743 baseline and differential
GenevisibleiQ04743 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
IPR000047 HTH_motif
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
PR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiEMX2_HUMAN
AccessioniPrimary (citable) accession number: Q04743
Secondary accession number(s): G3V305, Q96NN8, Q9BQF4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: October 18, 2001
Last modified: November 7, 2018
This is version 172 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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