Aliases for EGR2 Gene
Aliases for EGR2 Gene
External Ids for EGR2 Gene
- HGNC: 3239
- Entrez Gene: 1959
- Ensembl: ENSG00000122877
- OMIM: 129010
- UniProtKB: P11161
Previous HGNC Symbols for EGR2 Gene
- KROX20
Previous GeneCards Identifiers for EGR2 Gene
- GC10M063383
- GC10M063658
- GC10M064464
- GC10M063916
- GC10M064241
- GC10M064571
- GC10M058563
Summaries 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.
Additional gene information for EGR2 Gene
- Monarch Initiative
- Search for EGR2 at DataMed
- Search for EGR2 at HumanCyc
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
- 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:
Regulatory Element Products
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:
-
- 10q21.3 by Ensembl
- 10q21.3 by Entrez Gene
- 10q21.3 by HGNC
EGR2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Post-translational modifications for EGR2 Gene
- Ubiquitinated by WWP2 leading to proteasomal degradation.
Other Protein References for EGR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for EGR2
- Novus Biologicals Antibodies for EGR2
-
Abcam antibodies for EGR2
-
Cloud-Clone Corp. Antibodies for EGR2
- Invitrogen Antibodies for EGR2
- GeneTex EGR2 antibody for EGR2
-
Santa Cruz Biotechnology (SCBT) Antibodies for EGR2
Protein Products
-
OriGene Purified Proteins for EGR2
- Search Origene for MassSpec and Protein Over-expression Lysates for EGR2
- Origene Custom Protein Services for EGR2
-
Cloud-Clone Corp. Proteins for EGR2
- Search GeneTex for Proteins for EGR2
-
Abcam proteins for EGR2
Assay Products
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for EGR2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P11161- Family:
-
- Belongs to the EGR C2H2-type zinc-finger protein family.
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
| 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 | -- |
Phenotypes for EGR2 Gene
- MGI mutant phenotypes for EGR2:
-
inferred from 10 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- embryo phenotype
- skeleton phenotype
- craniofacial phenotype
- no phenotypic analysis
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for EGR2:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased shRNA abundance (Z-score < -2)
- Decreased NF-kappaB reporter expression
- Increased transferrin (TF) endocytosis
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Strongly decreased CFP-tsO45G cell surface transport
- Increased shRNA abundance (Z-score > 2)
- Decreased IL-8 secretion
- Synthetic lethal with vaccinia virus (VACV) infection
- Synthetic lethal with cisplatin
Animal Models for EGR2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for EGR2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for EGR2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EGR2 gene
- Search ViGene Biosciences for EGR2
CRISPR Products
-
OriGene CRISPR knockouts for EGR2
- genomics-online: gRNA clones - Search results for 127 available EGR2 gene related products
- Overview of 127 available EGR2 gene related products
-
Recommended
- Applied Biological Materials CRISPR for EGR2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EGR2
- GenScript: Design CRISPR guide RNA sequences for EGR2
miRNA for EGR2 Gene
- miRTarBase miRNAs that target EGR2
Transcription Factor Targets for EGR2 Gene
Targeted motifs for EGR2 Gene
HOMER Transcription Factor Regulatory Elements motif EGR2
- Consensus sequence: NGCGTGGGCGGR Submotif: canonical Cell Type: Thymocytes GEO ID: GSE34254
miRNA Products
- Search ViGene Biosciences for EGR2
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for EGR2
- Browse OriGene Inhibitory RNA Products For EGR2
- genomics-online: shRNA clones - Search results for 127 available EGR2 gene related products
- Overview of 127 available EGR2 gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for EGR2 gene
Clone Products
- Sino Biological Human cDNA Clone for EGR2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for EGR2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EGR2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 127 available EGR2 gene related products
- Overview of 127 available EGR2 gene related products
-
Recommended
- orf clones - Search results for 127 available EGR2 gene related products
- Overview of 127 available EGR2 gene related products
-
Recommended
- Applied Biological Materials Clones for EGR2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for EGR2
-
ViGene Biosciences adenoviral particle packaged cDNA for EGR2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for EGR2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EGR2 gene
Localization for EGR2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EGR2 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| cytosol | 1 |
- Nucleoplasm (3)
| 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 | -- |
Pathways & Interactions for EGR2 Gene
Pathways by source for EGR2 Gene
4 BioSystems pathways for EGR2 Gene
3 KEGG pathways for EGR2 Gene
UniProtKB/Swiss-Prot P11161-EGR2_HUMAN
- Pathway: Protein modification; protein sumoylation.
Interacting Proteins 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 |
Transcripts for EGR2 Gene
mRNA/cDNA for EGR2 Gene
- (6) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (69) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for EGR2
- genomics-online: gRNA clones - Search results for 127 available EGR2 gene related products
- Overview of 127 available EGR2 gene related products
-
Recommended
- Applied Biological Materials CRISPR for EGR2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EGR2
- GenScript: Design CRISPR guide RNA sequences for EGR2
miRNA Products
- Search ViGene Biosciences for EGR2
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for EGR2
- Browse OriGene Inhibitory RNA Products For EGR2
- genomics-online: shRNA clones - Search results for 127 available EGR2 gene related products
- Overview of 127 available EGR2 gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for EGR2 gene
Clone Products
- Sino Biological Human cDNA Clone for EGR2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for EGR2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EGR2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 127 available EGR2 gene related products
- Overview of 127 available EGR2 gene related products
-
Recommended
- orf clones - Search results for 127 available EGR2 gene related products
- Overview of 127 available EGR2 gene related products
-
Recommended
- Applied Biological Materials Clones for EGR2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | · | 4c | · | 4d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||
| SP2: | - | ||||||||||||||||||
| SP3: | - | ||||||||||||||||||
| SP4: |
Expression for EGR2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Cumulus Cells Antral Follicle
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
- Mature Granulosa Cells Antral Follicle
- Secondary follicles
- Peripheral Nervous System (Nervous System)
- Glial Cells
-
Hair (Integumentary System)
- Fetal Matrix Cells Hair Follicle
- Zigzag Dermal Papilla Cells Dermal Papilla
- Fetal Precortex Cells Hair Shaft
-
Epithelial Cells
- Fetal Matrix Cells Hair Follicle
- Fetal Precortex Cells Hair Shaft
- Duct Cells Pancreatic Ducts
-
Tendon & Ligament (Muscoskeletal System)
- Tenocytes Limb Tendons and Ligaments
- Early Tenocyte Cells Limb Tendon Primordia
- Kidney (Urinary System)
- Bone (Muscoskeletal System)
-
Dermis (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
-
Somite (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
-
Pancreas (Endocrine System)
- Duct Cells Pancreatic Ducts
- Cartilage (Muscoskeletal System)
-
Thyroid (Endocrine System)
-
Testis (Reproductive System)
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:
EGR2SOURCE GeneReport for Unigene cluster for EGR2 Gene:
Hs.1395Evidence 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
Primer Products
-
OriGene qPCR primer pairs for EGR2
-
OriGene qPCR primer pairs and template standards for EGR2
- genomics-online: primer clones - Search results for 127 available EGR2 gene related products
- Overview of 127 available EGR2 gene related products
-
Recommended
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | EGR2 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | EGR2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | EGR2 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Egr2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Egr2 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | EGR2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | EGR2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | egr2 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | egr2-A 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | egr2b 33 34 |
|
||
| egr2a 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | sr 35 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C27C12.2 35 |
|
|
|
| Y55F3AM.7 35 |
|
|
|||
| ZK337.2 34 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MIG2 34 |
|
ManyToMany | |
| MIG3 34 |
|
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)
Paralogs for EGR2 Gene
Variants 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 |
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
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
(19) MalaCards diseases for EGR2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive |
|
|
| charcot-marie-tooth disease, demyelinating, type 1d |
|
|
| hypertrophic neuropathy of dejerine-sottas |
|
|
| charcot-marie-tooth disease and deafness |
|
|
| congenital hypomyelination neuropathy |
|
|
Search EGR2 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for EGR2 Gene
Publications for EGR2 Gene
- 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
- 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
- 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
- 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
- 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
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- Custom Antibody ServicesOriGene Antibodies for EGR2
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- Cloud-Clone Corp. Antibodies for EGR2
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- Invitrogen Antibodies for EGR2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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- Mammalian expression: PiggyBac
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- antibodies-online: Search results for 124 available EGR2 Antibodies ranked by validation data
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- antibodies-online: Search results for 25 available EGR2 Elisa Kits ranked by validation data
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- GeneTex EGR2 antibody for EGR2
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- Search ViGene Biosciences for EGR2
- Santa Cruz Biotechnology (SCBT) Antibodies for EGR2
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- genomics-online: cdna clones - Search results for 127 available EGR2 gene related products
- Overview of 127 available EGR2 gene related products
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Sources for EGR2 Gene
- (1) GeneCards
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- (3) EntrezGene
- (4) Swiss-Prot
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- (33) HomoloGene
- (34) PanEnsembl
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- (39) Pseudogene
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- (68) Cloud-Clone Corp.
- (69) OCA
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- (73) Reactome
- (74) GeneGo (Thomson Reuters)
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- (79) LifeMap
- (80) miRTarBase
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