Details for: EGR2

Gene ID: 1959

Symbol: EGR2

Ensembl ID: ENSG00000122877

Description: early growth response 2

Associated with

Cells (max top 100)

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

  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 1.51
    Marker Score: 617
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.41
    Marker Score: 5209
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.25
    Marker Score: 2360
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.22
    Marker Score: 955
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.05
    Marker Score: 331
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251772
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.04
    Marker Score: 2105
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.02
    Marker Score: 380
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71789
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48014
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.96
    Marker Score: 15086
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 489
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2409
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 443
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.94
    Marker Score: 24001
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5261
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2728
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.89
    Marker Score: 5415
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 313
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5274
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.84
    Marker Score: 270
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.83
    Marker Score: 4947
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.83
    Marker Score: 498
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1257
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 380
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.73
    Marker Score: 24767
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.71
    Marker Score: 545
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.71
    Marker Score: 651
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 0.71
    Marker Score: 813
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.71
    Marker Score: 284
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.7
    Marker Score: 1729
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2940
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.7
    Marker Score: 219
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.68
    Marker Score: 1611
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.68
    Marker Score: 375
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.68
    Marker Score: 680
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.65
    Marker Score: 6541.5
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.65
    Marker Score: 1479
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.64
    Marker Score: 427
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.63
    Marker Score: 147
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.63
    Marker Score: 661.5
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.61
    Marker Score: 936
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.6
    Marker Score: 962
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.57
    Marker Score: 1187
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.57
    Marker Score: 604
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 430
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 0.53
    Marker Score: 222
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.52
    Marker Score: 248
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 0.52
    Marker Score: 1510
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.52
    Marker Score: 623
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.51
    Marker Score: 319
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.49
    Marker Score: 96
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.49
    Marker Score: 311
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.48
    Marker Score: 668
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.48
    Marker Score: 249
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.48
    Marker Score: 780
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.46
    Marker Score: 331
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.46
    Marker Score: 779
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.45
    Marker Score: 1176
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.45
    Marker Score: 247
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.45
    Marker Score: 142
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.44
    Marker Score: 423
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.44
    Marker Score: 459
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.44
    Marker Score: 119
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.43
    Marker Score: 192
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.43
    Marker Score: 481
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.43
    Marker Score: 424
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.43
    Marker Score: 113
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.41
    Marker Score: 106
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.4
    Marker Score: 127
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.4
    Marker Score: 1082
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.4
    Marker Score: 265
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.38
    Marker Score: 637
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.38
    Marker Score: 216
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.37
    Marker Score: 234
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.37
    Marker Score: 172
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.36
    Marker Score: 93
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.35
    Marker Score: 145
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.34
    Marker Score: 209
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.34
    Marker Score: 462
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.34
    Marker Score: 162
  • Cell Name: B-1b B cell (CL0000821)
    Fold Change: 0.33
    Marker Score: 77
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.33
    Marker Score: 221
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.33
    Marker Score: 429
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.33
    Marker Score: 113
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.33
    Marker Score: 856
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.33
    Marker Score: 2121
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.32
    Marker Score: 474
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.31
    Marker Score: 214
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 0.31
    Marker Score: 3044
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.3
    Marker Score: 1829
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.3
    Marker Score: 206
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.3
    Marker Score: 215
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.3
    Marker Score: 161
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.3
    Marker Score: 425
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.3
    Marker Score: 369
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3
    Marker Score: 74
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3
    Marker Score: 295

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Other Information

## Summary EGR2 is a transcription factor that plays a crucial role in early brain development. It is expressed in a wide range of cell types, including embryonic and adult brain cells. Through various signaling pathways, including those involving the Notch signaling pathway, EGR2 regulates the expression of numerous genes involved in brain development, including those involved in neural tube specification, gliogenesis, and neuron differentiation. ## Key characteristics * EGR2 is a transcription factor that belongs to the Egr family of transcription factors. * It is a key regulator of early brain development. * It is expressed in a wide range of cell types, including embryonic and adult brain cells. * It plays a role in neural tube specification, gliogenesis, and neuron differentiation. * It is a key regulator of the expression of numerous genes involved in brain development. ## Pathways and functions * EGR2 is a key regulator of early brain development. * It is expressed in a wide range of cell types, including embryonic and adult brain cells. * It plays a role in neural tube specification, gliogenesis, and neuron differentiation. * It is a key regulator of the expression of numerous genes involved in brain development. ## Clinical significance * Mutations in the EGR2 gene have been linked to a number of human brain disorders, including autism spectrum disorder, schizophrenia, and epilepsy. * Understanding the role of EGR2 in brain development could provide new insights into the development of these disorders. * Drugs that target EGR2 have been investigated as potential treatments for these disorders. ## Additional information * EGR2 is a highly conserved protein, with a similar protein found in other vertebrates. * It is a key regulator of neural tube specification, which is the process by which the neural tube closes and forms the brain and spinal cord. * It is also a key regulator of gliogenesis, the process by which new neurons and glial cells are generated. * It is a key regulator of neuron differentiation, the process by which uncommitted stem cells become neurons.

Genular Protein ID: 1212850806

Symbol: EGR2_HUMAN

Name: E3 SUMO-protein ligase EGR2

UniProtKB Accession Codes:

P11161 B2R724 B3KRD7 Q68CZ5 Q8IV26 Q9UNA6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 3 ExpressionAtlas 1 GO 46 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 4 RefSeq 5 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.