Details for: EMX1

Gene ID: 2016

Symbol: EMX1

Ensembl ID: ENSG00000135638

Description: empty spiracles homeobox 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 2.6182
    Cell Significance Index: 8.9900
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 2.3884
    Cell Significance Index: 9.1500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6465
    Cell Significance Index: 129.6900
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.2305
    Cell Significance Index: 2.4400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2172
    Cell Significance Index: 41.3300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1528
    Cell Significance Index: 6.9300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1194
    Cell Significance Index: 3.4400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0662
    Cell Significance Index: 59.7500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0653
    Cell Significance Index: 4.3900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0411
    Cell Significance Index: 0.8900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0268
    Cell Significance Index: 2.7400
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.0255
    Cell Significance Index: 0.1900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0227
    Cell Significance Index: 1.3600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0200
    Cell Significance Index: 3.2500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0139
    Cell Significance Index: 1.5200
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.0118
    Cell Significance Index: 0.0900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0100
    Cell Significance Index: 0.9900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0068
    Cell Significance Index: 0.2400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0027
    Cell Significance Index: -0.1900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0040
    Cell Significance Index: -7.4800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0045
    Cell Significance Index: -1.6200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0050
    Cell Significance Index: -3.4800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0056
    Cell Significance Index: -10.3800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0067
    Cell Significance Index: -10.3800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0072
    Cell Significance Index: -9.7400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0109
    Cell Significance Index: -0.6700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0112
    Cell Significance Index: -0.2800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0126
    Cell Significance Index: -9.3300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0127
    Cell Significance Index: -9.3400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0138
    Cell Significance Index: -7.5500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0139
    Cell Significance Index: -7.8600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0162
    Cell Significance Index: -10.3000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0238
    Cell Significance Index: -10.7900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0252
    Cell Significance Index: -0.7200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0279
    Cell Significance Index: -8.0300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0290
    Cell Significance Index: -0.9500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0355
    Cell Significance Index: -7.0500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0400
    Cell Significance Index: -8.4200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0427
    Cell Significance Index: -1.3600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0435
    Cell Significance Index: -7.4300
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0441
    Cell Significance Index: -0.4800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0526
    Cell Significance Index: -1.6900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0561
    Cell Significance Index: -10.1100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0569
    Cell Significance Index: -7.8100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0628
    Cell Significance Index: -7.3200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0719
    Cell Significance Index: -10.4500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0733
    Cell Significance Index: -9.4700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0763
    Cell Significance Index: -1.1500
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.0768
    Cell Significance Index: -0.7000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0834
    Cell Significance Index: -10.2500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0861
    Cell Significance Index: -9.8600
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.0922
    Cell Significance Index: -0.6700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1065
    Cell Significance Index: -3.7300
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: -0.1121
    Cell Significance Index: -1.0200
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: -0.1134
    Cell Significance Index: -1.1700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1162
    Cell Significance Index: -2.4800
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1174
    Cell Significance Index: -1.3700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1218
    Cell Significance Index: -9.0800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1282
    Cell Significance Index: -9.8400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1304
    Cell Significance Index: -10.3300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1419
    Cell Significance Index: -8.7200
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1424
    Cell Significance Index: -1.3500
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.1476
    Cell Significance Index: -1.6500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1587
    Cell Significance Index: -4.6800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1616
    Cell Significance Index: -4.0300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1661
    Cell Significance Index: -9.3200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1757
    Cell Significance Index: -7.7700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1797
    Cell Significance Index: -4.6200
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.1808
    Cell Significance Index: -1.7200
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: -0.1889
    Cell Significance Index: -1.9900
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.1930
    Cell Significance Index: -1.9100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2013
    Cell Significance Index: -9.4600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2047
    Cell Significance Index: -7.7500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2069
    Cell Significance Index: -5.4400
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: -0.2430
    Cell Significance Index: -2.6200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2454
    Cell Significance Index: -3.5200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2522
    Cell Significance Index: -11.7600
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.2545
    Cell Significance Index: -1.5100
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.2581
    Cell Significance Index: -3.4400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2639
    Cell Significance Index: -7.0600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3040
    Cell Significance Index: -11.1600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3057
    Cell Significance Index: -8.1900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3075
    Cell Significance Index: -10.6900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3090
    Cell Significance Index: -6.0300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3230
    Cell Significance Index: -9.2600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3263
    Cell Significance Index: -6.8100
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.3277
    Cell Significance Index: -5.4000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3339
    Cell Significance Index: -7.2200
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.3346
    Cell Significance Index: -4.0700
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.3396
    Cell Significance Index: -6.9100
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.3418
    Cell Significance Index: -4.5600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3442
    Cell Significance Index: -7.3100
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: -0.3458
    Cell Significance Index: -4.0200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3572
    Cell Significance Index: -7.4100
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.3579
    Cell Significance Index: -11.3200
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.3591
    Cell Significance Index: -9.1500
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    Fold Change: -0.3630
    Cell Significance Index: -3.3000
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.3647
    Cell Significance Index: -9.1100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3662
    Cell Significance Index: -10.7600
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.3683
    Cell Significance Index: -5.5100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Transcription factor**: EMX1 is a homeobox gene that acts as a transcription factor, regulating the expression of target genes involved in CNS development and function. 2. **CNS development**: EMX1 is highly expressed during embryonic development, particularly in the neural tube and cerebral cortex, where it regulates the differentiation of neurons and glial cells. 3. **Cellular localization**: EMX1 is primarily localized to the nucleus, where it interacts with chromatin and RNA polymerase II to regulate gene expression. 4. **Tissue specificity**: EMX1 is expressed in various tissues, including the kidney, blood vessels, and immune cells, suggesting its role in development and function beyond the CNS. **Pathways and Functions:** 1. **Neuronal differentiation**: EMX1 regulates the expression of genes involved in neuronal differentiation, including those involved in axon extension, dendritic arborization, and synaptogenesis. 2. **Cerebral cortex regionalization**: EMX1 is involved in the regionalization of the cerebral cortex, where it regulates the expression of genes involved in layer formation and neuronal differentiation. 3. **Chromatin regulation**: EMX1 interacts with chromatin to regulate gene expression, ensuring the proper timing and spatial organization of gene expression during development. 4. **Immune cell development**: EMX1 is expressed in immune cells, including T cells and granulocytes, where it regulates the expression of genes involved in immune cell development and function. **Clinical Significance:** 1. **Neurological disorders**: Dysregulation of EMX1 has been implicated in various neurological disorders, including autism spectrum disorder, schizophrenia, and cerebral cortical dysplasia. 2. **Cancer**: EMX1 is frequently downregulated in various types of cancer, including brain tumors and leukemia, suggesting its role as a tumor suppressor gene. 3. **Kidney disease**: EMX1 is involved in the development and function of the kidney, and its dysregulation has been implicated in kidney disease, including diabetic nephropathy and chronic kidney disease. 4. **Immune system dysfunction**: EMX1 is expressed in immune cells, and its dysregulation has been implicated in immune system dysfunction, including autoimmune diseases and immunodeficiency disorders. In conclusion, the EMX1 gene plays a crucial role in the development and organization of the CNS and other tissues, and its dysregulation has been implicated in various neurological and non-neurological disorders. Further research is needed to fully elucidate the mechanisms by which EMX1 regulates gene expression and to explore its therapeutic potential in treating these disorders.

Genular Protein ID: 795265970

Symbol: EMX1_HUMAN

Name: Empty spiracles homolog 1

UniProtKB Accession Codes:

Q04741 Q0D2P0 Q53T30 Q86XB0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 1 ExpressionAtlas 1 GO 23 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 neXtProt 1

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1352754

Title: Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex.

PubMed ID: 1352754

DOI: 10.1002/j.1460-2075.1992.tb05319.x

PubMed ID: 20887964

Title: WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

PubMed ID: 20887964

DOI: 10.1016/j.ajhg.2010.08.018

PubMed ID: 29263200

Title: WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.

PubMed ID: 29263200

DOI: 10.15252/embr.201744632

Sequence Information:

  • Length: 290
  • Mass: 31295
  • Checksum: 0DACBDA87DCC813D
  • Sequence:
    • MCLAGCTPRK AAAPGRGALP RARLPRTAPA AATMFQPAAK RGFTIESLVA KDGGTGGGTG 
GGGAGSHLLA AAASEEPLRP TALNYPHPSA AEAAFVSGFP AAAAAGAGRS LYGGPELVFP 
EAMNHPALTV HPAHQLGASP LQPPHSFFGA QHRDPLHFYP WVLRNRFFGH RFQASDVPQD 
GLLLHGPFAR KPKRIRTAFS PSQLLRLERA FEKNHYVVGA ERKQLAGSLS LSETQVKVWF 
QNRRTKYKRQ KLEEEGPESE QKKKGSHHIN RWRIATKQAN GEDIDVTSND

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.