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Aliases for EGR2 Gene

Aliases for EGR2 Gene

  • Early Growth Response 2 2 3
  • KROX20 3 4 6
  • Early Growth Response Protein 2 3 4
  • Zinc Finger Protein Krox-20 3 4
  • AT591 3 4
  • KROX-20, Drosophila, Homolog (Early Growth Response-2) 3
  • Early Growth Response 2 (Krox-20 Homolog, Drosophila) 2
  • E3 SUMO-Protein Ligase EGR2 3
  • Krox-20 Homolog 2
  • Drosophila 2
  • EC 6.3.2.- 4
  • CMT1D 3
  • CMT4E 3
  • EGR-2 4

External Ids for EGR2 Gene

Previous Symbols for EGR2 Gene

  • KROX20

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 L1CAM interactions and IL4-mediated signaling events. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is WT1.

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

Genomic Location for EGR2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EGR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EGR2 Gene

Regulatory Elements 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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for EGR2 Gene

Domains for EGR2 Gene

Gene Families for EGR2 Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type

Protein Domains for EGR2 Gene

UniProtKB/Swiss-Prot:

EGR2_HUMAN
Family:
  • Belongs to the EGR C2H2-type zinc-finger protein family.:
    • P11161
Similarity:
  • Contains 3 C2H2-type zinc fingers.:
    • P11161
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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 12687019
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 12687019
GO:0001102 RNA polymerase II activating transcription factor binding ISS --
GO:0003677 DNA binding --
GO:0003682 chromatin binding ISS --
genes like me logo Genes that share ontologies with EGR2: view
genes like me logo Genes that share phenotypes with EGR2: view

Animal Models for EGR2 Gene

MGI Knock Outs for EGR2:

Transcription Factor Targeting for EGR2 Gene

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

Gene Ontology (GO) - Cellular Components for EGR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with EGR2: view

Pathways 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

Gene Ontology (GO) - Biological Process for EGR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated --
GO:0006366 transcription from RNA polymerase II promoter ISS --
GO:0006611 protein export from nucleus ISS --
GO:0007420 brain development TAS 9537424
GO:0007422 peripheral nervous system development TAS 9537424
genes like me logo Genes that share ontologies with EGR2: view

Compounds for EGR2 Gene

(5) Novoseek inferred chemical compound relationships for EGR2 Gene

Compound -log(P) Hits PubMed IDs
zinc 44.1 11
dbc-amp 25.8 1
dexamethasone 8.45 3
calcium 0 3
tyrosine 0 1
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 (8.0).

SOURCE GeneReport for Unigene cluster for EGR2 Gene Hs.1395

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

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
  • 99.51 (n)
  • 100 (a)
EGR2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EGR2 36
  • 90.03 (n)
  • 94.32 (a)
EGR2 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EGR2 36
  • 91.12 (n)
  • 95.63 (a)
EGR2 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Egr2 36
  • 86.24 (n)
  • 89.57 (a)
Egr2 16
Egr2 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EGR2 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Egr2 36
  • 86.67 (n)
  • 89.79 (a)
lizard
(Anolis carolinensis)
Reptilia EGR2 37
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia egr2-A 36
tropical clawed frog
(Silurana tropicalis)
Amphibia egr2 36
  • 66.82 (n)
  • 68.85 (a)
zebrafish
(Danio rerio)
Actinopterygii egr2a 37
  • 55 (a)
OneToMany
egr2b 36
  • 67.77 (n)
  • 71.1 (a)
egr2b 37
  • 71 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sr 37
  • 14 (a)
OneToMany
sr 38
  • 78 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK337.2 37
  • 19 (a)
ManyToMany
Y55F3AM.7 38
  • 71 (a)
C27C12.2 38
  • 83 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 39
MIG2 37
  • 11 (a)
ManyToMany
MIG3 37
  • 10 (a)
ManyToMany
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

Selected 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 MAF
rs150902 -- 62,816,557(-) CCCAG(C/G)GATCC upstream-variant-2KB, intron-variant
rs178619 -- 62,854,853(+) GTTTA(A/G)ACCCT intron-variant
rs192007 -- 62,826,635(+) TAGTA(A/G)GCATT intron-variant
rs224083 -- 62,814,011(-) TATCC(A/G)TCCCC reference, synonymous-codon
rs224084 -- 62,815,143(-) CTCGA(A/G)GCCGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv895570 CNV Loss 21882294

Relevant External Links for EGR2 Gene

HapMap Linkage Disequilibrium report
EGR2
Human Gene Mutation Database (HGMD)
EGR2
Locus Specific Mutation Databases (LSDB)
EGR2

Disorders for EGR2 Gene

(3) OMIM Diseases for EGR2 Gene (129010)

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.

(3) University of Copenhagen DISEASES for EGR2 Gene

(13) Novoseek inferred disease relationships for EGR2 Gene

Disease -log(P) Hits PubMed IDs
neuropathy, congenital hypomyelinating 95.3 6
dejerine-sottas disease 92 6
charcot-marie-tooth disease 91.6 16
myelinopathy 88.3 5
hereditary peripheral neuropathy 83 1

Relevant External Links for EGR2

GeneTests
EGR2
GeneReviews
EGR2
Genetic Association Database (GAD)
EGR2
Human Genome Epidemiology (HuGE) Navigator
EGR2
genes like me logo Genes that share disorders with EGR2: view

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 49
  2. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. (PMID: 10371530) Timmerman V. … Van Broeckhoven C. (Neurology 1999) 3 4 23
  3. Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. (PMID: 10762521) Pareyson D. … Sghirlanzoni A. (Neurology 2000) 3 4 23
  4. A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1. (PMID: 11239949) Yoshihara T. … Sobue G. (J. Neurol. Sci. 2001) 3 4 23
  5. The serum and TPA responsive promoter and intron-exon structure of EGR2, a human early growth response gene encoding a zinc finger protein. (PMID: 2111009) Rangnekar V.M. … Sukhatme V.P. (Nucleic Acids Res. 1990) 3 4 23

Products for EGR2 Gene

Sources for EGR2 Gene

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