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Aliases for EGR2 Gene

Aliases for EGR2 Gene

  • Early Growth Response 2 2 3 5
  • Early Growth Response Protein 2 3 4
  • Zinc Finger Protein Krox-20 3 4
  • KROX20 3 4
  • AT591 3 4
  • KROX-20, Drosophila, Homolog (Early Growth Response-2) 3
  • Early Growth Response 2 (Krox-20 Homolog, Drosophila) 2
  • Krox-20 Homolog, Drosophila 2
  • E3 SUMO-Protein Ligase EGR2 3
  • EC 6.3.2.- 4
  • CMT1D 3
  • CMT4E 3
  • EGR-2 4

External Ids for EGR2 Gene

Previous HGNC Symbols for EGR2 Gene

  • KROX20

Previous GeneCards Identifiers for EGR2 Gene

  • GC10M063383
  • GC10M063658
  • GC10M064464
  • GC10M063916
  • GC10M064241
  • GC10M064571
  • GC10M058563

Summaries for EGR2 Gene

Entrez Gene Summary for EGR2 Gene

  • The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for EGR2 Gene

EGR2 (Early Growth Response 2) is a Protein Coding gene. Diseases associated with EGR2 include Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive and Charcot-Marie-Tooth Disease, Demyelinating, Type 1D. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and IL4-mediated signaling events. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and ligase activity. An important paralog of this gene is EGR3.

UniProtKB/Swiss-Prot for EGR2 Gene

  • Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter region of HOXA4.

  • E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 own transcriptional activity.

Gene Wiki entry for EGR2 Gene

Additional gene information for EGR2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EGR2 Gene

Genomics for EGR2 Gene

GeneHancer (GH) Regulatory Elements for EGR2 Gene

Promoters and enhancers for EGR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I062815 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.1 +102.7 102724 3.4 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 EGR2 JMJD1C ENSG00000238280 GC10P062845
GH10I062819 Promoter/Enhancer 0.9 EPDnew dbSUPER 550.1 +100.7 100652 0.1 CBFA2T3 EZH2 EGR2 ADO ENSG00000238280 GC10P062845
GH10I062631 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 34.1 +287.6 287566 1.9 SMAD1 RB1 BMI1 KLF5 IRF4 ZNF207 ZNF143 ATF7 ETV6 BCLAF1 EGR2 ADO LOC105378327 GC10M062430 ZNF365
GH10I062616 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 37.4 +300.8 300842 4.9 ZNF687 MAX EBF1 MNT ELF1 EP300 POLR2A GLIS1 TARDBP IKZF1 EGR2 ENSG00000238280 ADO LOC105378327 GC10M062430 ZNF365
GH10I062635 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 32.4 +282.7 282716 4 HDGF PKNOX1 SMAD1 RB1 BATF KLF5 IRF4 ZNF143 ATF7 ETV6 EGR2 ADO ENSG00000238280 NRBF2 LOC105378327 GC10M062430 ZNF365
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EGR2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EGR2 gene promoter:

Genomic Locations for EGR2 Gene

Genomic Locations for EGR2 Gene
chr10:62,811,996-62,919,900
(GRCh38/hg38)
Size:
107,905 bases
Orientation:
Minus strand
chr10:64,571,756-64,679,660
(GRCh37/hg19)

Genomic View for EGR2 Gene

Genes around EGR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EGR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EGR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EGR2 Gene

Proteins for EGR2 Gene

  • Protein details for EGR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11161-EGR2_HUMAN
    Recommended name:
    E3 SUMO-protein ligase EGR2
    Protein Accession:
    P11161
    Secondary Accessions:
    • B2R724
    • B3KRD7
    • Q68CZ5
    • Q8IV26
    • Q9UNA6

    Protein attributes for EGR2 Gene

    Size:
    476 amino acids
    Molecular mass:
    50302 Da
    Quaternary structure:
    • Interacts with HCFC1. Interacts with WWP2. Interacts with UBC9.
    SequenceCaution:
    • Sequence=AAA52372.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAA52372.1; Type=Frameshift; Positions=449; Evidence={ECO:0000305};

    Alternative splice isoforms for EGR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EGR2 Gene

Post-translational modifications for EGR2 Gene

  • Ubiquitinated by WWP2 leading to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EGR2 Gene

Domains & Families for EGR2 Gene

Gene Families for EGR2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for EGR2 Gene

Suggested Antigen Peptide Sequences for EGR2 Gene

Graphical View of Domain Structure for InterPro Entry

P11161

UniProtKB/Swiss-Prot:

EGR2_HUMAN :
  • Belongs to the EGR C2H2-type zinc-finger protein family.
Family:
  • Belongs to the EGR C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with EGR2: view

Function for EGR2 Gene

Molecular function for EGR2 Gene

GENATLAS Biochemistry:
immediate early growth response,gene 2 (pAT591),involved in early myelination of the peripheral nervous system
UniProtKB/Swiss-Prot Function:
Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter region of HOXA4.
UniProtKB/Swiss-Prot Function:
E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 own transcriptional activity.

Enzyme Numbers (IUBMB) for EGR2 Gene

Phenotypes From GWAS Catalog for EGR2 Gene

Gene Ontology (GO) - Molecular Function for EGR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 12687019
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 12687019
GO:0001102 RNA polymerase II activating transcription factor binding ISS --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with EGR2: view
genes like me logo Genes that share phenotypes with EGR2: view

Human Phenotype Ontology for EGR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EGR2 Gene

MGI Knock Outs for EGR2:

Animal Model Products

Transcription Factor Targets for EGR2 Gene

Selected GeneGlobe predicted Target genes for EGR2
Targeted motifs for EGR2 Gene
HOMER Transcription Factor Regulatory Elements motif EGR2
  • Consensus sequence: NGCGTGGGCGGR Submotif: canonical Cell Type: Thymocytes GEO ID: GSE34254

Clone Products

Localization for EGR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EGR2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EGR2 gene
Compartment Confidence
nucleus 5
extracellular 2
plasma membrane 1
cytoskeleton 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EGR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm ISS --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with EGR2: view

Pathways & Interactions for EGR2 Gene

genes like me logo Genes that share pathways with EGR2: view

UniProtKB/Swiss-Prot P11161-EGR2_HUMAN

  • Pathway: Protein modification; protein sumoylation.

SIGNOR curated interactions for EGR2 Gene

Activates:

Gene Ontology (GO) - Biological Process for EGR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II ISS --
GO:0006611 protein export from nucleus ISS --
GO:0007420 brain development TAS 9537424
genes like me logo Genes that share ontologies with EGR2: view

Drugs & Compounds for EGR2 Gene

(4) Drugs for EGR2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for EGR2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EGR2: view

Transcripts for EGR2 Gene

Unigene Clusters for EGR2 Gene

Early growth response 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EGR2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d
SP1: - -
SP2: -
SP3: -
SP4:

Relevant External Links for EGR2 Gene

GeneLoc Exon Structure for
EGR2
ECgene alternative splicing isoforms for
EGR2

Expression for EGR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EGR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EGR2 Gene

This gene is overexpressed in Nerve - Tibial (x8.0).

NURSA nuclear receptor signaling pathways regulating expression of EGR2 Gene:

EGR2

SOURCE GeneReport for Unigene cluster for EGR2 Gene:

Hs.1395

Evidence on tissue expression from TISSUES for EGR2 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EGR2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • head
  • meninges
  • neck
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with EGR2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for EGR2 Gene

Orthologs for EGR2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EGR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EGR2 33 34
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia EGR2 33 34
  • 91.12 (n)
cow
(Bos Taurus)
Mammalia EGR2 33 34
  • 90.03 (n)
rat
(Rattus norvegicus)
Mammalia Egr2 33
  • 86.67 (n)
mouse
(Mus musculus)
Mammalia Egr2 33 16 34
  • 86.24 (n)
oppossum
(Monodelphis domestica)
Mammalia EGR2 34
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EGR2 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia egr2 33
  • 66.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia egr2-A 33
zebrafish
(Danio rerio)
Actinopterygii egr2b 33 34
  • 67.77 (n)
egr2a 34
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sr 35 34
  • 78 (a)
worm
(Caenorhabditis elegans)
Secernentea C27C12.2 35
  • 83 (a)
Y55F3AM.7 35
  • 71 (a)
ZK337.2 34
  • 19 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIG2 34
  • 11 (a)
ManyToMany
MIG3 34
  • 10 (a)
ManyToMany
COM2 36
Species where no ortholog for EGR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EGR2 Gene

ENSEMBL:
Gene Tree for EGR2 (if available)
TreeFam:
Gene Tree for EGR2 (if available)

Paralogs for EGR2 Gene

Paralogs for EGR2 Gene

(3) SIMAP similar genes for EGR2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with EGR2: view

Variants for EGR2 Gene

Sequence variations from dbSNP and Humsavar for EGR2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs104894158 pathogenic, Neuropathy, congenital hypomyelinating, autosomal recessive, Congenital hypomyelinating neuropathy, Neuropathy, congenital hypomyelinating or amyelinating (CHN) [MIM:605253] 62,813,835(-) A/T coding_sequence_variant, missense_variant
rs104894159 pathogenic, Charcot-Marie-Tooth disease, demyelinating, type 1d, Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678] 62,813,413(-) G/A coding_sequence_variant, missense_variant
rs104894160 pathogenic, Neuropathy, congenital hypomyelinating, autosomal dominant, Congenital hypomyelinating neuropathy, Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678] 62,813,491(-) C/A coding_sequence_variant, missense_variant
rs104894161 pathogenic, Dejerine-sottas neuropathy, autosomal dominant, Charcot-Marie-Tooth disease, demyelinating, type 1d, Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type I, not provided, Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678], Dejerine-Sottas syndrome (DSS) [MIM:145900] 62,813,563(-) G/A coding_sequence_variant, missense_variant
rs1060502676 uncertain-significance, Charcot-Marie-Tooth disease, type I 62,813,901(-) C/T coding_sequence_variant, missense_variant

Variation tolerance for EGR2 Gene

Residual Variation Intolerance Score: 25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 22.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EGR2 Gene

Human Gene Mutation Database (HGMD)
EGR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EGR2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EGR2 Gene

Disorders for EGR2 Gene

MalaCards: The human disease database

(19) MalaCards diseases for EGR2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

EGR2_HUMAN
  • Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. {ECO:0000269 PubMed:10502832, ECO:0000269 PubMed:10762521, ECO:0000269 PubMed:11239949, ECO:0000269 PubMed:12736090, ECO:0000269 PubMed:15241803, ECO:0000269 PubMed:15947997, ECO:0000269 PubMed:9537424, ECO:0000269 Ref.15}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO:0000269 PubMed:10371530}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuropathy, congenital hypomyelinating or amyelinating (CHN) [MIM:605253]: A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. Inheritance can be autosomal dominant or recessive. {ECO:0000269 PubMed:22522483, ECO:0000269 PubMed:9537424}. Note=The disease is caused by mutations affecting the gene represented in this entry. Patients affected by the amyelinating form carry a causative, homozygous deletion encompassing a myelin-specific enhancer of EGR2 (PubMed:22522483). {ECO:0000269 PubMed:22522483}.

Additional Disease Information for EGR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EGR2: view

No data available for Genatlas for EGR2 Gene

Publications for EGR2 Gene

  1. A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. (PMID: 10502832) Bellone E … Mandich P (Human mutation 1999) 3 4 22 44 58
  2. Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients. (PMID: 16912585) Song S … Zhong N (Genetics in medicine : official journal of the American College of Medical Genetics 2006) 3 22 44 58
  3. Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. (PMID: 15947997) Chung KW … Choi BO (Neurogenetics 2005) 3 4 22 58
  4. Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. (PMID: 16198564) Mikesová E … Seeman P (Neuromuscular disorders : NMD 2005) 3 22 44 58
  5. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. (PMID: 15241803) Choi BO … Chung KW (Human mutation 2004) 3 4 22 58

Products for EGR2 Gene

Sources for EGR2 Gene

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