EMX2 - empty spiracles homeobox 2 Gene

Homo sapiens

Gene ID: 2018 | Gene type: protein coding

About EMX2

Cytogenetic location: 10q26.11 Genomic coordinates (GRCh38): 10:117,542,746-117,549,546 (from NCBI)

This gene has 4 transcripts (splice variants), 198 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in endometrium (RPKM 36.5), kidney (RPKM 19.4) and 4 other tissues.

Summary

This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]

EMX2 Products(2)

mRNA	Protein	Name
NM_001165924.2	NP_001159396.1	homeobox protein EMX2 isoform 2
NM_004098.4	NP_004089.1	homeobox protein EMX2 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15247416	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EMX2 Protein Structure

Homeobox

0
100
200
252 a.a.

Protein Preferred Names

Protein Names

homeobox protein EMX2

empty spiracles homolog 2

EMX2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	EMX2	Q04743	OTUD6A	Homo sapiens	Q7L8S5	Validated Y2H	32296183
Intra	EMX2	Q04743	EIF4E	Homo sapiens	P06730	CoIP	15247416

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Schizencephaly

Familial Schizencephaly	Acquired Schizencephaly
SCHZC	Schizencephalia

Fallopian Tube Clear Cell Adenocarcinoma

Clear Cell Carcinoma Of The Fallopian Tube

Mucocele Of Appendix

Appendicele Mucocele	Appendicular Mucocele
Appendiceal Mucocele

Fallopian Tube Endometriosis

Endometriosis Of Fallopian Tube

Adenomyosis Of Fallopian Tube

Disorder Of Sexual Development

Disorder Of Sex Development	Disorders Of Sex Development
Sex Development Disorder	Sex Differentiation Disease
Dsd	Sex Differentiation Disorders

Lateral Displacement Of Eye

Lateral Displacement Of Globe

Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria	Polymicrogyria, Bilateral Perisylvian
Pmgx	Perisylvian Syndrome, Congenital Bilateral
Cbps	Congenital Bilateral Perisylvian Syndrome
Perisylvian Syndrome	BPPX
Bpp

Endometriosis

Endometriosis, Site Unspecified

Endometrial Ectopia

Bilateral Frontal Polymicrogyria

Holoprosencephaly

Holoprosencephaly Sequence	Hpe
Hpe - [Holoprosencephaly]

Mayer-Rokitansky-Kuster-Hauser Syndrome

Mrkh Syndrome	Rokitansky Syndrome
Mullerian Aplasia	Mrkh Anomaly
Congenital Absence Of Uterus And Vagina	Congenital Absence Of The Uterus And Vagina
Genital Renal Ear Syndrome	Mayer-Rokitansky-Küster-Hauser Syndrome
Mullerian Dysgenesis	Müllerian Agenesis
Rokitansky Kuster Hauser Syndrome	MRKH
Mullerian Aplasia/Dysgenesis	Von Mayer-Rokitansky-Kuster Anomaly
Mrk Anomaly	Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida
Cauv	Mullerian Agenesis
Aplasia Of The Mullerian Ducts	Mullerian Duct Failure
Müllerian Aplasia	Rokitansky-Kuster-Hauser Syndrome
RKH SYNDROME

Bilateral Renal Aplasia

Porencephaly

Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Guttmacher Syndrome	Preaxial Deficiency, Postaxial Polydactyly And Hypospadias
Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome
GUTTS

Hand-Foot-Genital Syndrome

Hand-Foot-Uterus Syndrome	Hfgs
Hfg Syndrome	Hfu Syndrome
HFG	Hfu
Hand Foot Uterus Syndrome	Hand Foot Genital Syndrome

Band Heterotopia

Subcortical Band Heterotopia	Double Cortex Syndrome
Subcortical Laminar Heterotopia	Double Cortex
Band Heterotopia Of Brain	BH
Heco	Heterotopic Cortex
Familial Band Heterotopia	Dc
Dc Syndrome	Heterotopia, Subcortical Band
Sbh	Sclh
Bhy

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Renal Hypodysplasia/Aplasia 1

Renal Agenesis	Renal Adysplasia
Renal Aplasia	RHDA1
Hereditary Renal Aplasia	Hra
Hereditary Urogenital Adysplasia	Hypodysplasia/Aplasia, Renal, Type 1
Congenital Absence Of Kidneys Syndrome	Congenital Absence Of Kidney
Aplastic Kidney

Polymicrogyria

Pmg

Cakut

Renal Or Urinary Tract Malformation	Congenital Anomalies Of Kidney And Urinary Tract
Congenital Anomaly Of Kidney And Urinary Tract	Congenital Anomalies Of The Kidney And Urinary Tract
Kidney And Urinary Tract, Anomalies, Congenital	Renal Hypodysplasia, Nonsyndromic, 1

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

46,Xy Sex Reversal

Swyer Syndrome	Pure Gonadal Dysgenesis 46,Xy
Gonadal Dysgenesis, Xy Female Type	Gonadal Dysgenesis, 46,Xy
46,Xy Cgd	46,Xy Complete Gonadal Dysgenesis
46,Xy Pure Gonadal Dysgenesis	46 Xy Gonadal Dysgenesis
46, Xy Cgd	46, Xy Complete Gonadal Dysgenesis
46, Xy Pure Gonadal Dysgenesis	Xy Pure Gonadal Dysgenesis
Female With 46,Xy Karyotype	Xy Females

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04364	EMX2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	EMX2	VGNC	VGNC:40356
Rattus norvegicus	EMX2	RGD	RGD:1564797
Mus musculus	EMX2	MGD	MGI:95388
Bos taurus	EMX2	VGNC	VGNC:28486
Macaca mulatta	EMX2	VGNC	VGNC:106044

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