Gene EMX1 - ENSG00000135638 | NCBI Gene ID: 2016

Details for: EMX1

Gene ID: 2016

Symbol: EMX1

Ensembl ID: ENSG00000135638

Description: empty spiracles homeobox 1

Associated with

Brain development
(GO:0007420)
Brain morphogenesis
(GO:0048854)
Central nervous system development
(GO:0007417)
Cerebral cortex neuron differentiation
(GO:0021895)
Cerebral cortex regionalization
(GO:0021796)
Chromatin
(GO:0000785)
Chromosome
(GO:0005694)
Cytoplasm
(GO:0005737)
Dna-binding transcription factor activity, rna polymerase ii-specific
(GO:0000981)
Homeostasis of number of cells
(GO:0048872)
In utero embryonic development
(GO:0001701)
Neuroepithelial cell differentiation
(GO:0060563)
Neuron differentiation
(GO:0030182)
Neuron projection extension
(GO:1990138)
Nucleolus
(GO:0005730)
Nucleus
(GO:0005634)
Post-embryonic development
(GO:0009791)
Protein binding
(GO:0005515)
Radial glial cell differentiation
(GO:0060019)
Regulation of oligodendrocyte progenitor proliferation
(GO:0070445)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Response to xenobiotic stimulus
(GO:0009410)
Rna polymerase ii cis-regulatory region sequence-specific dna binding
(GO:0000978)
Sequence-specific double-stranded dna binding
(GO:1990837)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 3.02
Marker Score: 3204
Cell Name: kidney collecting duct principal cell (CL1001431)
Fold Change: 2.78
Marker Score: 7022
Cell Name: blood vessel endothelial cell (CL0000071)
Fold Change: 2.2
Marker Score: 2219
Cell Name: renal principal cell (CL0005009)
Fold Change: 2.09
Marker Score: 1609
Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 2.07
Marker Score: 2936
Cell Name: plasma cell (CL0000786)
Fold Change: 1.86
Marker Score: 2080
Cell Name: T cell (CL0000084)
Fold Change: 1.72
Marker Score: 2959.5
Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.62
Marker Score: 1176
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 1.38
Marker Score: 876
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 1.27
Marker Score: 861
Cell Name: germ cell (CL0000586)
Fold Change: 1.22
Marker Score: 2135
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 1.2
Marker Score: 2838
Cell Name: B cell (CL0000236)
Fold Change: 1.2
Marker Score: 1138
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 1.19
Marker Score: 492
Cell Name: goblet cell (CL0000160)
Fold Change: 1.16
Marker Score: 7680
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 1.05
Marker Score: 802
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71828
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48053
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 1
Marker Score: 514
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.99
Marker Score: 467
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30408
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 0.96
Marker Score: 1477
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2412
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.94
Marker Score: 378
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.94
Marker Score: 5349.5
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.92
Marker Score: 331
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2740
Cell Name: kidney collecting duct intercalated cell (CL1001432)
Fold Change: 0.9
Marker Score: 1492
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 0.9
Marker Score: 7721
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.88
Marker Score: 53857
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5292
Cell Name: pericyte (CL0000669)
Fold Change: 0.86
Marker Score: 502
Cell Name: mast cell (CL0000097)
Fold Change: 0.84
Marker Score: 488
Cell Name: male germ cell (CL0000015)
Fold Change: 0.82
Marker Score: 235
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.81
Marker Score: 1539
Cell Name: brush cell (CL0002204)
Fold Change: 0.78
Marker Score: 712
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1266
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.77
Marker Score: 401
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.73
Marker Score: 3068
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.73
Marker Score: 468
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.71
Marker Score: 182
Cell Name: myeloid cell (CL0000763)
Fold Change: 0.71
Marker Score: 1138
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.71
Marker Score: 11075.5
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.7
Marker Score: 462
Cell Name: primordial germ cell (CL0000670)
Fold Change: 0.69
Marker Score: 861
Cell Name: oogonial cell (CL0000024)
Fold Change: 0.64
Marker Score: 926
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 0.64
Marker Score: 6082.5
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.62
Marker Score: 495.5
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 0.61
Marker Score: 2181
Cell Name: stromal cell (CL0000499)
Fold Change: 0.61
Marker Score: 715
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.57
Marker Score: 151
Cell Name: conventional dendritic cell (CL0000990)
Fold Change: 0.56
Marker Score: 387
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 0.56
Marker Score: 177
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.54
Marker Score: 225
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.53
Marker Score: 245
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.5
Marker Score: 1022
Cell Name: pro-B cell (CL0000826)
Fold Change: 0.46
Marker Score: 443
Cell Name: nephron tubule epithelial cell (CL1000494)
Fold Change: 0.42
Marker Score: 99
Cell Name: megakaryocyte (CL0000556)
Fold Change: 0.42
Marker Score: 237.5
Cell Name: kidney loop of Henle epithelial cell (CL1000909)
Fold Change: 0.39
Marker Score: 247
Cell Name: kidney collecting duct cell (CL1001225)
Fold Change: 0.39
Marker Score: 77
Cell Name: neutrophil (CL0000775)
Fold Change: 0.39
Marker Score: 237.5
Cell Name: fraction A pre-pro B cell (CL0002045)
Fold Change: 0.37
Marker Score: 376
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 0.36
Marker Score: 3379
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.35
Marker Score: 92
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.35
Marker Score: 111
Cell Name: ovarian surface epithelial cell (CL2000064)
Fold Change: 0.35
Marker Score: 952
Cell Name: smooth muscle cell (CL0000192)
Fold Change: 0.34
Marker Score: 226
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.34
Marker Score: 162
Cell Name: papillary tips cell (CL1000597)
Fold Change: 0.33
Marker Score: 67
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.32
Marker Score: 190
Cell Name: kidney epithelial cell (CL0002518)
Fold Change: 0.32
Marker Score: 334
Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 0.31
Marker Score: 330
Cell Name: columnar/cuboidal epithelial cell (CL0000075)
Fold Change: 0.3
Marker Score: 79
Cell Name: oocyte (CL0000023)
Fold Change: 0.29
Marker Score: 72
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.29
Marker Score: 173
Cell Name: taste receptor cell (CL0000209)
Fold Change: 0.28
Marker Score: 243
Cell Name: neural progenitor cell (CL0011020)
Fold Change: 0.26
Marker Score: 1012
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 0.25
Marker Score: 671
Cell Name: podocyte (CL0000653)
Fold Change: 0.24
Marker Score: 89
Cell Name: renal interstitial pericyte (CL1001318)
Fold Change: 0.24
Marker Score: 228
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.23
Marker Score: 66
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.22
Marker Score: 76
Cell Name: plasmacytoid dendritic cell (CL0000784)
Fold Change: 0.22
Marker Score: 120
Cell Name: parietal epithelial cell (CL1000452)
Fold Change: 0.22
Marker Score: 80
Cell Name: neuroendocrine cell (CL0000165)
Fold Change: 0.22
Marker Score: 84
Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
Fold Change: 0.21
Marker Score: 443
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.21
Marker Score: 94
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 0.21
Marker Score: 211
Cell Name: ciliated epithelial cell (CL0000067)
Fold Change: 0.19
Marker Score: 87
Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 0.18
Marker Score: 354
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.18
Marker Score: 59
Cell Name: leukocyte (CL0000738)
Fold Change: 0.18
Marker Score: 105
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.18
Marker Score: 44
Cell Name: endothelial cell of lymphatic vessel (CL0002138)
Fold Change: 0.17
Marker Score: 105
Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 0.16
Marker Score: 83
Cell Name: kidney interstitial cell (CL1000500)
Fold Change: 0.16
Marker Score: 112
Cell Name: glutamatergic neuron (CL0000679)
Fold Change: 0.16
Marker Score: 1577.5
Cell Name: microglial cell (CL0000129)
Fold Change: 0.15
Marker Score: 269.5
Cell Name: mesothelial cell (CL0000077)
Fold Change: 0.14
Marker Score: 57.5

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**Key characteristics:** - EMX1 is a member of the empty spiracles homeobox gene family, which are involved in the development of the neural tube and the formation of the CNS. - It is a key regulator of neuronal differentiation and migration. - EMX1 is expressed in a variety of neural cell types, including neurons, astrocytes, oligodendrocytes, and ependymal cells. - It is a key factor in the specification of the cerebral cortex, which is responsible for higher-order cognitive functions such as learning, memory, and language. **Pathways and functions:** - EMX1 is a key regulator of neuronal differentiation and migration. - It is required for the specification of the cerebral cortex and the development of higher-order cognitive functions. - It is also involved in the development of the nervous system in other tissues, such as the kidney and the colon. **Clinical significance:** - Mutations in the EMX1 gene have been linked to a number of human diseases, including autism, schizophrenia, and epilepsy. - These mutations can lead to a variety of neurological symptoms, including intellectual disability, seizures, and behavioral problems. - Therefore, EMX1 is a promising target for the treatment of neurological disorders. **Additional notes:** - EMX1 is a highly conserved gene, with a similar gene called EMX2 found in other vertebrates. - It is regulated by a complex network of transcription factors, including the transcription factor Sox1 and the Notch signaling pathway. - EMX1 is a key regulator of brain development, and its dysfunction can lead to a variety of neurological disorders.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Empty spiracles homolog 1

Genular Protein ID: 795265970

Symbol: EMX1_HUMAN

Name: Empty spiracles homolog 1

UniProtKB Accession Codes:

Q04741 Q0D2P0 Q53T30 Q86XB0

Database IDs:

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. For the full schema, download it here.

Details for: EMX1

Associated with

Cells (max top 100)

Other Information

Generation and annotation of the DNA sequences of human chromosomes 2 and 4. PubMed ID: 15815621

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex. PubMed ID: 1352754