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 Re... See more...

Aliases for EGR2 Gene

Aliases for EGR2 Gene

  • Early Growth Response 2 2 3 5
  • E3 SUMO-Protein Transferase ERG2 3 4
  • Early Growth Response Protein 2 3 4
  • E3 SUMO-Protein Ligase EGR2 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
  • EC 2.3.2.- 4
  • CMT1D 3
  • CMT4E 3
  • EGR-2 4
  • CHN1 3
  • EGR2 5

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, 1, 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 Summary for EGR2 Gene

  • Sequence-specific DNA-binding transcription factor (PubMed:17717711). Plays a role in hindbrain segmentation by regulating the expression of a subset of homeobox containing genes and in Schwann cell myelination by regulating the expression of genes involved in the formation and maintenance of myelin (By similarity). Binds to two EGR2-consensus sites EGR2A (5'-CTGTAGGAG-3') and EGR2B (5'-ATGTAGGTG-3') in the HOXB3 enhancer and promotes HOXB3 transcriptional activation (By similarity). Binds to specific DNA sites located in the promoter region of HOXA4, HOXB2 and ERBB2 (By similarity). Regulates hindbrain segmentation by controlling the expression of Hox genes, such as HOXA4, HOXB3 and HOXB2, and thereby specifying odd and even rhombomeres (By similarity). Promotes the expression of HOXB3 in the rhombomere r5 in the hindbrain (By similarity). Regulates myelination in the peripheral nervous system after birth, possibly by regulating the expression of myelin proteins, such as MPZ, and by promoting the differentiation of Schwann cells (By similarity). Involved in the development of the jaw openener musculature, probably by playing a role in its innervation through trigeminal motor neurons (By similarity). May play a role in adipogenesis, possibly by regulating the expression of CEBPB (By similarity).
  • E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 transcriptional activity.

Gene Wiki entry for EGR2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EGR2 Gene

Genomics for EGR2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH10J062814 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.1 +102.9 102900 6 CREB1 CTCF ZBTB33 TEAD4 PRDM10 ZNF629 IKZF1 ZNF692 POLR2A BACH1 lnc-ADO-3 EGR2 JMJD1C ADO lnc-JMJD1C-10 lnc-EGR2-3
GH10J062631 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 34.1 +287.6 287566 1.9 SP1 CREB1 ATF7 BACH1 ZNF143 TCF12 IKZF2 RELA TRIM22 IRF3 EGR2 ADO MN296981 LOC105378327 piR-45012-054 ENSG00000285551 ENSG00000285837 ZNF365
GH10J062616 Promoter/Enhancer 1.4 EPDnew FANTOM5 ENCODE dbSUPER 37.4 +300.8 300820 2.8 TCF12 IKZF2 EED MNT CEBPB RUNX3 FOS ARNT ELF1 IKZF1 ZNF365 EGR2 ADO ENSG00000238280 piR-45012-054 MN296981 ENSG00000285551 ENSG00000285837
GH10J062732 Enhancer 1.3 FANTOM5 Ensembl ENCODE 38.8 +185.0 184999 5.8 SP1 ZNF512 POLR2A BACH1 JUND RELA SMAD5 IKZF2 RCOR1 TRIM22 EGR2 ADO ENSG00000238280 ZNF365 REEP3 NRBF2 ALDH7A1P4 lnc-ZNF365-3
GH10J062680 Enhancer 1.3 FANTOM5 Ensembl ENCODE 34.5 +236.8 236757 5.5 SP1 TEAD4 ZNF7 LARP7 STAT3 ZNF143 RELA RAD21 TCF12 IKZF2 EGR2 ADO ENSG00000238280 NRBF2 piR-32461-022 lnc-ZNF365-3 ZNF365
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EGR2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EGR2

Top Transcription factor binding sites by QIAGEN in the EGR2 gene promoter:
  • SRF
  • SRF (504 AA)

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)
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 (PubMed:14532282). Interacts with WWP2 (PubMed:19651900). Interacts with UBC9 (PubMed:21836637). Interacts with CITED1 (By similarity). Interacts (via phosphorylated form) with SFN (By similarity).
    SequenceCaution:
    • Sequence=AAA52372.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAA52372.1; Type=Frameshift; 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.
  • Acetylated at Lys-247. May be deacetylated by HDAC6, HDAC10 or SIRT1.
  • 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

InterPro:
Blocks:
  • C2H2-type zinc finger signature
ProtoNet:

Suggested Antigen Peptide Sequences for EGR2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54816, highly similar to Early growth response protein 2 (B4DL38_HUMAN)
  • Zinc finger protein Krox-20 (EGR2_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Sequence-specific DNA-binding transcription factor (PubMed:17717711). Plays a role in hindbrain segmentation by regulating the expression of a subset of homeobox containing genes and in Schwann cell myelination by regulating the expression of genes involved in the formation and maintenance of myelin (By similarity). Binds to two EGR2-consensus sites EGR2A (5'-CTGTAGGAG-3') and EGR2B (5'-ATGTAGGTG-3') in the HOXB3 enhancer and promotes HOXB3 transcriptional activation (By similarity). Binds to specific DNA sites located in the promoter region of HOXA4, HOXB2 and ERBB2 (By similarity). Regulates hindbrain segmentation by controlling the expression of Hox genes, such as HOXA4, HOXB3 and HOXB2, and thereby specifying odd and even rhombomeres (By similarity). Promotes the expression of HOXB3 in the rhombomere r5 in the hindbrain (By similarity). Regulates myelination in the peripheral nervous system after birth, possibly by regulating the expression of myelin proteins, such as MPZ, and by promoting the differentiation of Schwann cells (By similarity). Involved in the development of the jaw openener musculature, probably by playing a role in its innervation through trigeminal motor neurons (By similarity). May play a role in adipogenesis, possibly by regulating the expression of CEBPB (By similarity).
UniProtKB/Swiss-Prot Function:
E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 transcriptional activity.
GENATLAS Biochemistry:
immediate early growth response,gene 2 (pAT591),involved in early myelination of the peripheral nervous system

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:0000976 transcription regulatory region sequence-specific DNA binding ISS, IBA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 12687019
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IDA,ISA --
GO:0001102 RNA polymerase II activating transcription factor binding ISS --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 12687019
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

CRISPR 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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EGR2

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
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 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:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,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:
Inactivates:
Is activated by:
Is inactivated by:

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:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0006366 transcription by RNA polymerase II ISS,IEA --
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

mRNA/cDNA for EGR2 Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EGR2

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

Expression for EGR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EGR2

SOURCE GeneReport for Unigene cluster for EGR2 Gene:

Hs.1395

Evidence on tissue expression from TISSUES for EGR2 Gene

  • Nervous system(4.7)
  • Thyroid gland(2.7)
  • Skin(2.5)
  • Lymph node(2.5)
  • Blood(2.5)
  • Muscle(2.4)
  • Spleen(2.3)
  • Heart(2.3)
  • Bone marrow(2.2)
  • Kidney(2.2)
  • Liver(2.2)
  • Intestine(2.2)
  • Adrenal gland(2.1)

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 30 31
  • 99.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EGR2 30 31
  • 91.12 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EGR2 30 31
  • 90.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Egr2 30
  • 86.67 (n)
Mouse
(Mus musculus)
Mammalia Egr2 30 17 31
  • 86.24 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EGR2 31
  • 81 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EGR2 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia egr2 30
  • 66.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia egr2-A 30
Zebrafish
(Danio rerio)
Actinopterygii egr2b 30 31
  • 67.77 (n)
OneToMany
egr2a 31
  • 55 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta sr 31 32
  • 14 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C27C12.2 32
  • 83 (a)
Y55F3AM.7 32
  • 71 (a)
ZK337.2 31
  • 19 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIG2 31
  • 11 (a)
ManyToMany
MIG3 31
  • 10 (a)
ManyToMany
COM2 33
Species where no ortholog for EGR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for EGR2: view image

Paralogs for EGR2 Gene

Paralogs for EGR2 Gene

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

  • EGR2_HUMAN
genes like me logo Genes that share paralogs with EGR2: view

Variants for EGR2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EGR2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
637521 Uncertain Significance: Charcot-Marie-Tooth disease 62,813,574(-) T/A MISSENSE_VARIANT
637522 Uncertain Significance: Charcot-Marie-Tooth disease 62,813,491(-) C/G MISSENSE_VARIANT
637523 Uncertain Significance: Charcot-Marie-Tooth disease 62,813,581(-) G/C MISSENSE_VARIANT
637524 Pathogenic: Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, type I 62,813,497(-) G/A MISSENSE_VARIANT
638513 Uncertain Significance: Dejerine-Sottas disease; Charcot-Marie-Tooth disease, demyelinating, type 1d 62,814,258(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for EGR2 Gene

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

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

- 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, 1, autosomal recessive (CHN1) [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. {ECO:0000269 PubMed:17717711, 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:17717711, ECO:0000269 PubMed:22546699, ECO:0000269 PubMed:22734907, ECO:0000269 PubMed:30843326, ECO:0000269 PubMed:9537424, ECO:0000269 Ref.14}. 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, ECO:0000269 PubMed:17717711, ECO:0000269 PubMed:31852952}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EGR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23 41
  2. Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. (PMID: 17717711) Szigeti K … Lupski JR (Neurogenetics 2007) 3 4 23
  3. 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 23 41
  4. 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 23
  5. Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. (PMID: 16198564) Mikesová E … Seeman P (Neuromuscular disorders : NMD 2005) 3 23 41

Products for EGR2 Gene

Sources for EGR2 Gene