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EMX2 empty spiracles homeobox 2 [ Homo sapiens (human) ]

Gene ID: 2018, updated on 8-Dec-2022

Summary

Official Symbol
EMX2provided by HGNC
Official Full Name
empty spiracles homeobox 2provided by HGNC
Primary source
HGNC:HGNC:3341
See related
Ensembl:ENSG00000170370 MIM:600035; AllianceGenome:HGNC:3341
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Biased expression in endometrium (RPKM 36.5), kidney (RPKM 19.4) and 4 other tissues See more
Orthologs
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Genomic context

See EMX2 in Genome Data Viewer
Location:
10q26.11
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (117542746..117549546)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (118437136..118443925)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (119302257..119309057)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378502 Neighboring gene Sharpr-MPRA regulatory region 14976 Neighboring gene EMX2 opposite strand/antisense RNA Neighboring gene Sharpr-MPRA regulatory region 1864 Neighboring gene VISTA enhancers hs935 and hs1032 Neighboring gene uncharacterized LOC124902555

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Schizencephaly
MedGen: C0266484 OMIM: 269160 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2021-11-09)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2021-11-09)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern.
EBI GWAS Catalog
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
EBI GWAS Catalog
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
EBI GWAS Catalog
Genome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patients.
EBI GWAS Catalog
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
involved_in brain development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell proliferation in forebrain IEA
Inferred from Electronic Annotation
more info
 
involved_in central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cerebral cortex regionalization IEA
Inferred from Electronic Annotation
more info
 
involved_in dentate gyrus development IEA
Inferred from Electronic Annotation
more info
 
involved_in forebrain cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neuron migration IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in ureter morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

Preferred Names
homeobox protein EMX2
Names
empty spiracles homolog 2
empty spiracles-like protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013009.1 RefSeqGene

    Range
    5302..12102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001165924.2NP_001159396.1  homeobox protein EMX2 isoform 2

    See identical proteins and their annotated locations for NP_001159396.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1, which results in a frameshift and a protein (isoform 2) with a shorter and distinct C-terminus, compared to isoform 1. Isoform 2 lacks the C-terminal homeodomain of isoform 1
    Source sequence(s)
    AC005871, AF301598, AI701984
    Consensus CDS
    CCDS53583.1
    UniProtKB/Swiss-Prot
    Q04743
    Related
    ENSP00000474874.1, ENST00000442245.5
  2. NM_004098.4NP_004089.1  homeobox protein EMX2 isoform 1

    See identical proteins and their annotated locations for NP_004089.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF301598, AI701984
    Consensus CDS
    CCDS7601.1
    UniProtKB/Swiss-Prot
    Q04743, Q9BQF4
    Related
    ENSP00000450962.3, ENST00000553456.5
    Conserved Domains (1) summary
    pfam00046
    Location:158211
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    117542746..117549546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    118437136..118443925
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)