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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 2
  • Drosophila 2
  • 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 and charcot-marie-tooth disease, type 1d. Among its related pathways are Developmental Biology and BDNF signaling pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and ligase activity. An important paralog of this gene is EGR1.

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

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

Genomics for EGR2 Gene

Regulatory Elements for EGR2 Gene

Genomic Location for EGR2 Gene

Chromosome:
10
Start:
62,811,996 bp from pter
End:
62,919,900 bp from pter
Size:
107,905 bases
Orientation:
Minus strand

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

Proteomics data for EGR2 Gene at MOPED

Post-translational modifications for EGR2 Gene

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

Other Protein References for EGR2 Gene

Antibody Products

No data available for DME Specific Peptides for EGR2 Gene

Domains & Families for EGR2 Gene

Gene Families for EGR2 Gene

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.
  • Contains 3 C2H2-type zinc fingers.
Family:
  • Belongs to the EGR C2H2-type zinc-finger protein family.
Similarity:
  • Contains 3 C2H2-type zinc fingers.
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

Gene Ontology (GO) - Molecular Function for EGR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001102 RNA polymerase II activating transcription factor binding ISS --
GO:0003682 chromatin binding ISS --
GO:0003700 transcription factor activity, sequence-specific DNA binding IDA 14532282
GO:0005515 protein binding IPI 14532282
GO:0016874 ligase activity 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

  • Taconic Biosciences Mouse Models for EGR2

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

Localization for EGR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EGR2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EGR2 Gene COMPARTMENTS Subcellular localization image for EGR2 gene
Compartment Confidence
nucleus 5
cytoskeleton 1
cytosol 1
extracellular 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for EGR2 Gene

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:0006355 regulation of transcription, DNA-templated IEA --
GO:0006611 protein export from nucleus ISS --
GO:0007422 peripheral nervous system development TAS 9537424
GO:0008045 motor neuron axon guidance IEA --
GO:0014037 Schwann cell differentiation IEA --
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:

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 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).

SOURCE GeneReport for Unigene cluster for EGR2 Gene Hs.1395

genes like me logo Genes that share expression patterns with EGR2: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 36
  • 100 (a)
OneToOne
EGR2 35
  • 99.51 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia EGR2 35
  • 90.03 (n)
  • 94.32 (a)
EGR2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EGR2 36
  • 99 (a)
OneToOne
EGR2 35
  • 91.12 (n)
  • 95.63 (a)
mouse
(Mus musculus)
Mammalia Egr2 16
Egr2 35
  • 86.24 (n)
  • 89.57 (a)
Egr2 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EGR2 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Egr2 35
  • 86.67 (n)
  • 89.79 (a)
lizard
(Anolis carolinensis)
Reptilia EGR2 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia egr2-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia egr2 35
  • 66.82 (n)
  • 68.85 (a)
zebrafish
(Danio rerio)
Actinopterygii egr2a 36
  • 55 (a)
OneToMany
egr2b 36
  • 71 (a)
OneToMany
egr2b 35
  • 67.77 (n)
  • 71.1 (a)
fruit fly
(Drosophila melanogaster)
Insecta sr 36
  • 14 (a)
OneToMany
sr 37
  • 78 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK337.2 36
  • 19 (a)
ManyToMany
C27C12.2 37
  • 83 (a)
Y55F3AM.7 37
  • 71 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIG2 36
  • 11 (a)
ManyToMany
MIG3 36
  • 10 (a)
ManyToMany
COM2 38
Species with no ortholog for EGR2:
  • 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 Sequence Context AA Info Type
VAR_007735 Neuropathy, congenital hypomyelinating or amyelinating (CHN)
VAR_007736 Charcot-Marie-Tooth disease 1D (CMT1D)
VAR_007738 Charcot-Marie-Tooth disease 1D (CMT1D)
VAR_009874 Charcot-Marie-Tooth disease 1D (CMT1D)
VAR_009874 Dejerine-Sottas syndrome (DSS)

Structural Variations from Database of Genomic Variants (DGV) for EGR2 Gene

Variant ID Type Subtype PubMed ID
nsv895570 CNV Loss 21882294

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)

Relevant External Links for EGR2 Gene

HapMap Linkage Disequilibrium report
EGR2
Human Gene Mutation Database (HGMD)
EGR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EGR2 Gene

Disorders for EGR2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
neuropathy, congenital hypomyelinating
  • dejerine-sottas disease
charcot-marie-tooth disease, type 1d
  • charcot-marie-tooth disease type 1d
dejerine-sottas disease
  • dss
charcot-marie-tooth neuropathy type 4
  • dejerine-sottas disease
tooth disease
  • dental disorder
- elite association - COSMIC cancer census association via MalaCards
Search EGR2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EGR2_HUMAN
  • 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}.
  • 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.

Relevant External Links for EGR2

Genetic Association Database (GAD)
EGR2
Human Genome Epidemiology (HuGE) Navigator
EGR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EGR2
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. (Hum. Mutat. 1999) 3 4 23 48 67
  2. Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2. (PMID: 20513111) Briani C. … Fabrizi G.M. (Muscle Nerve 2010) 3 23
  3. Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism. (PMID: 19000991) Swanberg S.E. … LaSalle J.M. (Hum. Mol. Genet. 2009) 3 23
  4. Toxoplasma gondii rhoptry discharge correlates with activation of the early growth response 2 host cell transcription factor. (PMID: 18678671) Phelps E.D. … Blader I.J. (Infect. Immun. 2008) 3 23
  5. Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. (PMID: 17717711) Szigeti K. … Lupski J.R. (Neurogenetics 2007) 3 23

Products for EGR2 Gene

Sources for EGR2 Gene

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