EMX1 - empty spiracles homeobox 1 Gene

Homo sapiens

Gene ID: 2016 | Gene type: protein coding

About EMX1

Cytogenetic location: 2p13.2 Genomic coordinates (GRCh38): 2:72,916,189-72,934,891 (from NCBI)

This gene has 6 transcripts (splice variants), 184 orthologues and 3 paralogues. Biased expression in kidney (RPKM 6.4), brain (RPKM 1.7) and 1 other tissue.

Summary

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in brain development; neuron differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; neuroepithelial cell differentiation; and regulation of oligodendrocyte progenitor proliferation. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]

EMX1 Products(1)

mRNA	Protein	Name
NM_004097.3	NP_004088.2	homeobox protein EMX1

EMX1 Protein Structure

Homeobox

0
100
200
290 a.a.

Protein Preferred Names

Protein Names

homeobox protein EMX1

empty spiracles homolog 1

Related Diseases

Diseases

Alias

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

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

Epithelial-Stromal Tgfbi Dystrophy

Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome	WTS
Mrxs6	X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome
Mrxswt	Wilson-Turner X-Linked Mental Retardation Syndrome
Mental Retardation, X-Linked, Syndromic 6	Mental Retardation, X-Linked, With Gynecomastia And Obesity
Intellectual Disability, X-Linked, Syndromic 6	Intellectual Disability, X-Linked, With Gynecomastia And Obesity
Wilson Turner Intellectual Disability Syndrome	X-Linked Intellectual Disability - Gynecomastia - Obesity

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Periventricular Nodular Heterotopia

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

Syndromic Intellectual Disability

Microcephaly

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04363	EMX1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	EMX1	RGD	RGD:1564002
Macaca mulatta	EMX1	VGNC	VGNC:106155
Bos taurus	EMX1	VGNC	VGNC:28485
Mus musculus	EMX1	MGD	MGI:95387