EMX1 (empty spiracles homeobox 1)

Gene Basic Information

Gene Basic Information

symbol
EMX1
locus group
protein-coding gene
location
2p13.2
gene_family
NKL subclass homeoboxes and pseudogenes
alias symbol
-
alias name
None
entrez id
2016
ensembl gene id
ENSG00000135638
ucsc gene id
uc002sin.1
refseq accession
NM_004097
hgnc_id
HGNC:3340
approved reserved
1994-02-08

Chromosome Location

Chromosome Location

2p13.2

Gene Summary

Gene Summary

ChineseEnglish

EMX1 (Empty Spiracles Homeobox 1) is a member of the EMX homeobox gene family, which also includes EMX2, and functions as a critical transcription factor governing embryonic development, particularly within the central nervous system. By binding to specific DNA sequences to regulate downstream target genes, EMX1 plays a pivotal role in the morphogenesis of the cerebral cortex, olfactory system, and urogenital tract. Its expression is predominantly localized to the dorsal regions of the developing telencephalon, where it is essential for the proliferation, migration, and differentiation of neural progenitor cells, thereby ensuring proper neuronal layering and connectivity. Disruptions in EMX1 function, such as mutations or aberrant expression levels, can lead to severe neurodevelopmental disorders, including cortical malformations and intellectual disabilities, while its dysregulation in the adult brain may compromise neuroplasticity, learning, and memory. Furthermore, EMX1 interacts with other key developmental regulators, such as PAX6 and components of the WNT signaling pathway, to fine-tune cellular fate decisions. Abnormal upregulation of EMX1 is associated with an increased risk of brain tumors, such as certain gliomas, due to excessive progenitor cell proliferation, whereas reduced expression can result in cortical thinning and cognitive deficits. Additionally, altered EMX1 expression has been implicated in the pathogenesis of psychiatric conditions, including schizophrenia and autism spectrum disorder, underscoring its role as a master regulator whose precise expression is vital for maintaining normal neural architecture and function.

OMIM entry for EMX1     Wikipedia entry for EMX1

Gene Sequence

Gene Sequence

Nucleotide sequence of EMX1:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MCLAGCTPRK AAAPGRGALP RARLPRTAPA AATMFQPAAK
41RGFTIESLVA KDGGTGGGTG GGGAGSHLLA AAASEEPLRP
81 TALNYPHPS AAEAAFVSGF PAAAAAGAGR SLYGGPELVF
121PEAMNHPALT VHPAHQLGAS PLQPPHSFFG AQHRDPLHFY
161P WVLRNRFF GHRFQASDVP QDGLLLHGPF ARKPKRIRTA
201FSPSQLLRLE RAFEKNHYVV GAERKQLAGS LSLSETQVKV
241WF QNRRTKY KRQKLEEEGP ESEQKKKGSH HINRWRIATK
281QANGEDIDVT SND
Structure predicted by AlphaFold DB(UniProt: Q04741). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of EMX1:           Showing partial SNPs
rs753554       rs999494       rs1465805       rs1561247       rs1898442       rs2077586       rs6718089       rs6728203       rs6740129       rs6745468       rs6748324       rs6757051       rs7584025       rs7597591       rs10174156       rs10176867       rs10179517      

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
TCATTTCGGTAGCTCTGAC
57
CAAGGCATGGATCACACTG
58
AGAAGAACCACTACGTGGTG
59
TCTGGAACCACACCTTCAC
59
AAGAACCACTACGTGGTGG
59
ACTGAAATCCACCTCCAGG
59
TCCTCATTATGTCCTTTGCCT
59
GAGCCAAAGAGAAGTCCTG
57
GAAGAACCACTACGTGGTG
58
CTGAAATCCACCTCCAGGG
59
GAAGAACCACTACGTGGTG
58
TCTGGAACCACACCTTCAC
59
TCCTCATTATGTCCTTTGCC
57
GAGCCAAAGAGAAGTCCTG
57
AAGAACCACTACGTGGTGG
59
TCTGGAACCACACCTTCAC
59
AAGAACCACTACGTGGTGG
59
CTGAAATCCACCTCCAGGG
59

Gene Ontology

Subcellular localization of EMX1 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for EMX1:

GO ID
Protein
Source DB
GO:0003677
F8W1B5 (UniProtKB)
IEA
GO:0003677
F8W1B5 (UniProtKB)
IEA
GO:0005634
F8W1B5 (UniProtKB)
IEA
GO:0001701
Q04741 (UniProtKB)
IEA
GO:0005515
Q04741 (UniProtKB)
IPI
GO:0005634
Q04741 (UniProtKB)
IDA
GO:0005737
Q04741 (UniProtKB)
IEA
GO:0006355
Q04741 (UniProtKB)
IEA
GO:0009791
Q04741 (UniProtKB)
IEA
GO:0021796
Q04741 (UniProtKB)
IEA
GO:0021895
Q04741 (UniProtKB)
IEA
GO:0042493
Q04741 (UniProtKB)
IEA
GO:0043565
Q04741 (UniProtKB)
IEA
GO:0048854
Q04741 (UniProtKB)
IEA
GO:0048872
Q04741 (UniProtKB)
IEA
GO:0060019
Q04741 (UniProtKB)
IEA
GO:0060563
Q04741 (UniProtKB)
IEA
GO:0070445
Q04741 (UniProtKB)
IEA
GO:1990138
Q04741 (UniProtKB)
IEA

Gene Interactions

Gene Interactions

String
BioGrid
mentha
Loading…
Interacting Gene Interaction Source/Score

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Kallmann Syndrome 0.000271442 1 0 BeFree

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