Details for: EGR2

Gene ID: 1959

Symbol: EGR2

Ensembl ID: ENSG00000122877

Description: early growth response 2

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 81.9697
    Cell Significance Index: -12.7500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 50.4646
    Cell Significance Index: -12.8000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 27.8457
    Cell Significance Index: -11.3100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 26.7303
    Cell Significance Index: -12.6200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 11.9194
    Cell Significance Index: -11.3800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.3410
    Cell Significance Index: -12.7500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.3675
    Cell Significance Index: -11.7000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.0632
    Cell Significance Index: -12.4800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.2285
    Cell Significance Index: -12.7400
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.3421
    Cell Significance Index: 11.1000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.0352
    Cell Significance Index: 8.2700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.9981
    Cell Significance Index: 441.2800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.7036
    Cell Significance Index: 20.1700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5973
    Cell Significance Index: 113.6700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.5840
    Cell Significance Index: 41.3000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5382
    Cell Significance Index: 11.6600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4026
    Cell Significance Index: 11.6000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.3645
    Cell Significance Index: 5.6400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.3468
    Cell Significance Index: 3.7700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3409
    Cell Significance Index: 33.7300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3086
    Cell Significance Index: 14.3900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3005
    Cell Significance Index: 271.3200
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.2996
    Cell Significance Index: 1.7600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2771
    Cell Significance Index: 12.5600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2658
    Cell Significance Index: 13.8100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.2481
    Cell Significance Index: 28.3200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2216
    Cell Significance Index: 7.7000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2083
    Cell Significance Index: 25.6100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1948
    Cell Significance Index: 24.9700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1769
    Cell Significance Index: 4.8200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1735
    Cell Significance Index: 28.2100
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.1718
    Cell Significance Index: 3.9700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1392
    Cell Significance Index: 15.1500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1114
    Cell Significance Index: 20.0900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0951
    Cell Significance Index: 51.9100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0891
    Cell Significance Index: 3.1300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0882
    Cell Significance Index: 2.3200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0498
    Cell Significance Index: 2.9900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0411
    Cell Significance Index: 2.8500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0128
    Cell Significance Index: 1.5100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0083
    Cell Significance Index: 1.6600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0043
    Cell Significance Index: 3.1700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0028
    Cell Significance Index: 0.3800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0014
    Cell Significance Index: -0.1900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0032
    Cell Significance Index: -2.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0060
    Cell Significance Index: -11.2300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0067
    Cell Significance Index: -4.9600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0087
    Cell Significance Index: -16.0000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0100
    Cell Significance Index: -15.4200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0103
    Cell Significance Index: -5.8100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0118
    Cell Significance Index: -16.0700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0133
    Cell Significance Index: -10.1000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0174
    Cell Significance Index: -11.0700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0198
    Cell Significance Index: -0.2700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0208
    Cell Significance Index: -0.1700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0216
    Cell Significance Index: -2.2100
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0249
    Cell Significance Index: -0.4100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0260
    Cell Significance Index: -1.2200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0286
    Cell Significance Index: -12.9900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0332
    Cell Significance Index: -11.9100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0348
    Cell Significance Index: -7.3200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0419
    Cell Significance Index: -7.1500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0428
    Cell Significance Index: -12.3100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0450
    Cell Significance Index: -5.2400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0513
    Cell Significance Index: -10.1800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0537
    Cell Significance Index: -0.6100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0569
    Cell Significance Index: -2.3300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0578
    Cell Significance Index: -6.6200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0656
    Cell Significance Index: -9.5300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0704
    Cell Significance Index: -3.5600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0708
    Cell Significance Index: -1.9800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0943
    Cell Significance Index: -5.7800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0982
    Cell Significance Index: -7.3200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0996
    Cell Significance Index: -2.4900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1065
    Cell Significance Index: -7.1600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1233
    Cell Significance Index: -12.8400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1271
    Cell Significance Index: -1.9200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1311
    Cell Significance Index: -6.8300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1431
    Cell Significance Index: -11.3300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1483
    Cell Significance Index: -4.7500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1515
    Cell Significance Index: -2.8000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1521
    Cell Significance Index: -3.2400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1558
    Cell Significance Index: -10.0500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1681
    Cell Significance Index: -12.9000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1742
    Cell Significance Index: -5.1300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1851
    Cell Significance Index: -9.7200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1934
    Cell Significance Index: -12.1900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2017
    Cell Significance Index: -11.3200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.2194
    Cell Significance Index: -2.8100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2200
    Cell Significance Index: -13.5300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2207
    Cell Significance Index: -3.1600
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.2231
    Cell Significance Index: -1.9300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2277
    Cell Significance Index: -6.0900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2585
    Cell Significance Index: -9.4900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2604
    Cell Significance Index: -11.5200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2803
    Cell Significance Index: -8.0000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2814
    Cell Significance Index: -4.7100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2960
    Cell Significance Index: -10.3700
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.3056
    Cell Significance Index: -3.1900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3109
    Cell Significance Index: -6.4500

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. **Transcriptional regulation**: EGR2 acts as a transcription factor, binding to specific DNA sequences and regulating the expression of target genes. 2. **Cellular specificity**: EGR2 is expressed in a variety of cell types, including neural, epithelial, and immune cells, suggesting its role in multiple cellular processes. 3. **Diverse ligands**: EGR2 can be activated by a range of ligands, including growth factors, hormones, and other signals, highlighting its adaptability to different cellular contexts. 4. **Regulatory complexity**: EGR2 is involved in the regulation of numerous biological processes, including embryonic development, neuronal differentiation, and immune function, underscoring its importance in complex biological systems. **Pathways and Functions** 1. **Embryonic development**: EGR2 plays a crucial role in the development of the nervous system, including the formation of neural crest cells and the regulation of axon guidance. 2. **Neuronal differentiation**: EGR2 is involved in the regulation of neuronal differentiation, including the expression of genes involved in neuronal development and function. 3. **Immune function**: EGR2 is expressed in immune cells and plays a role in the regulation of immune responses, including the activation of immune cells and the production of cytokines. 4. **Cellular differentiation**: EGR2 regulates the expression of genes involved in cellular differentiation, including the differentiation of epithelial and neural cells. 5. **Gene expression regulation**: EGR2 acts as a transcriptional regulator, binding to specific DNA sequences and regulating the expression of target genes. **Clinical Significance** 1. **Neurodevelopmental disorders**: Mutations in the EGR2 gene have been associated with neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. 2. **Cancer**: EGR2 is overexpressed in various types of cancer, including breast cancer, lung cancer, and glioblastoma, suggesting its potential role in tumorigenesis. 3. **Immune disorders**: EGR2 is involved in the regulation of immune responses, and dysregulation of EGR2 has been implicated in autoimmune disorders, including multiple sclerosis and rheumatoid arthritis. 4. **Neurodegenerative diseases**: EGR2 has been implicated in the regulation of neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease, suggesting its potential role in disease pathogenesis. In conclusion, EGR2 is a transcription factor gene that plays a crucial role in various developmental and cellular processes, including embryonic development, neuronal differentiation, and immune function. Its regulatory complexity and cellular specificity underscore its importance in complex biological systems. Further research is needed to fully elucidate the role of EGR2 in human disease and to explore its potential as a therapeutic target.

Genular Protein ID: 1212850806

Symbol: EGR2_HUMAN

Name: E3 SUMO-protein ligase EGR2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3140236

Title: Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with 'zinc-binding finger' structure.

PubMed ID: 3140236

DOI: 10.1073/pnas.85.19.7164

PubMed ID: 9537424

Title: Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.

PubMed ID: 9537424

DOI: 10.1038/ng0498-382

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

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: 2111009

Title: The serum and TPA responsive promoter and intron-exon structure of EGR2, a human early growth response gene encoding a zinc finger protein.

PubMed ID: 2111009

DOI: 10.1093/nar/18.9.2749

PubMed ID: 14532282

Title: HCF-1 functions as a coactivator for the zinc finger protein Krox20.

PubMed ID: 14532282

DOI: 10.1074/jbc.m303470200

PubMed ID: 19651900

Title: The HECT-type E3 ubiquitin ligase AIP2 inhibits activation-induced T-cell death by catalyzing EGR2 ubiquitination.

PubMed ID: 19651900

DOI: 10.1128/mcb.00407-09

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21836637

Title: The transcription factor Krox20 is an E3 ligase that sumoylates its Nab coregulators.

PubMed ID: 21836637

DOI: 10.1038/embor.2011.152

PubMed ID: 10502832

Title: A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.

PubMed ID: 10502832

DOI: 10.1002/(sici)1098-1004(199910)14:4<353::aid-humu17>3.0.co;2-4

PubMed ID: 10371530

Title: Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

PubMed ID: 10371530

DOI: 10.1212/wnl.52.9.1827

PubMed ID: 10762521

Title: Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.

PubMed ID: 10762521

DOI: 10.1212/wnl.54.8.1696

PubMed ID: 11239949

Title: A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1.

PubMed ID: 11239949

DOI: 10.1016/s0022-510x(00)00504-9

PubMed ID: 12736090

Title: Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.

PubMed ID: 12736090

DOI: 10.1016/s0022-510x(03)00028-5

PubMed ID: 15241803

Title: Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

PubMed ID: 15241803

DOI: 10.1002/humu.9261

PubMed ID: 15947997

Title: Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.

PubMed ID: 15947997

DOI: 10.1007/s10048-005-0217-4

PubMed ID: 17717711

Title: Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.

PubMed ID: 17717711

DOI: 10.1007/s10048-007-0094-0

PubMed ID: 22522483

Title: Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.

PubMed ID: 22522483

DOI: 10.1002/ana.23527

PubMed ID: 22734907

Title: A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease.

PubMed ID: 22734907

DOI: 10.1111/j.1529-8027.2012.00403.x

PubMed ID: 22546699

Title: Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family.

PubMed ID: 22546699

DOI: 10.1016/j.nmd.2012.04.002

PubMed ID: 30843326

Title: A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.

PubMed ID: 30843326

DOI: 10.1111/jns.12314

PubMed ID: 31852952

Title: A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).

PubMed ID: 31852952

DOI: 10.1038/s41598-019-55875-4

Sequence Information:

  • Length: 476
  • Mass: 50302
  • Checksum: 7810D1B1B418DF1F
  • Sequence:
  • MMTAKAVDKI PVTLSGFVHQ LSDNIYPVED LAATSVTIFP NAELGGPFDQ MNGVAGDGMI 
    NIDMTGEKRS LDLPYPSSFA PVSAPRNQTF TYMGKFSIDP QYPGASCYPE GIINIVSAGI 
    LQGVTSPAST TASSSVTSAS PNPLATGPLG VCTMSQTQPD LDHLYSPPPP PPPYSGCAGD 
    LYQDPSAFLS AATTSTSSSL AYPPPPSYPS PKPATDPGLF PMIPDYPGFF PSQCQRDLHG 
    TAGPDRKPFP CPLDTLRVPP PLTPLSTIRN FTLGGPSAGV TGPGASGGSE GPRLPGSSSA 
    AAAAAAAAAY NPHHLPLRPI LRPRKYPNRP SKTPVHERPY PCPAEGCDRR FSRSDELTRH 
    IRIHTGHKPF QCRICMRNFS RSDHLTTHIR THTGEKPFAC DYCGRKFARS DERKRHTKIH 
    LRQKERKSSA PSASVPAPST ASCSGGVQPG GTLCSSNSSS LGGGPLAPCS SRTRTP

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.