EMX1 - empty spiracles homeobox 1 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2016

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20887964	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in nucleus	IDA IDA: Inferred from direct assay	20887964	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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS04363	EMX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21335	Emx1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27854	Emx1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	EMX1	NCBI