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 and Charcot-Marie-Tooth Disease, Type 1D. Among its related pathways are Toll-like Receptor Signaling Pathway and HTLV-I infection. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EGR2 Gene
Genomics for EGR2 Gene
Regulatory Elements for EGR2 Gene
Enhancers for EGR2 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around EGR2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the EGR2 gene promoter:
Regulatory Element Products
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:
-
- 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.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for EGR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for EGR2
-
Cloud-Clone Corp. Antibodies for EGR2
- Invitrogen Antibodies for EGR2
- antibodies-online Antibodies for EGR2: See all 108
- 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
- antibodies-online Proteins for EGR2: See all 12
- Search antibodies-online for peptides
- Search GeneTex for Proteins for EGR2
Assay Products
- antibodies-online Kits for EGR2: See all 28
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
- 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
| 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 | transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific 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
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- normal phenotype
- growth/size/body region phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- embryo phenotype
- craniofacial phenotype
- no phenotypic analysis
- 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
-
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
-
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
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 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | ISS,IC | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
Pathways & Interactions for EGR2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
| 2 | Toll-like Receptor Signaling Pathway |
.30
|
|
| 3 | HTLV-I infection | ||
| 4 | Viral carcinogenesis | ||
| 5 | Developmental Biology | ||
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 from RNA polymerase II promoter | 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
-
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
-
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
| 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(4.6)
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
Organs:
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
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 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | EGR2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | EGR2 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Egr2 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Egr2 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | EGR2 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | EGR2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | egr2 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | egr2-A 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | egr2b 34 35 |
|
||
| egr2a 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | sr 36 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C27C12.2 36 |
|
|
|
| Y55F3AM.7 36 |
|
|
|||
| ZK337.2 35 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MIG2 35 |
|
ManyToMany | |
| MIG3 35 |
|
ManyToMany | |||
| COM2 37 |
|
|
- 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 | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs104894158 | Pathogenic, Neuropathy, congenital hypomyelinating or amyelinating (CHN) [MIM:605253] | 62,813,835(-) | TACAA(A/T)CCGTA | reference, missense | |
| rs104894159 | Pathogenic, Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678] | 62,813,413(-) | TTGCC(C/T)GGAGT | reference, missense | |
| rs104894160 | Pathogenic, Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678] | 62,813,491(-) | GCAGT(G/T)ACCAC | reference, missense | |
| rs104894161 | Pathogenic, Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678], Dejerine-Sottas syndrome (DSS) [MIM:145900] | 62,813,563(-) | TGACA(C/T)GGCAC | reference, missense | |
| rs281865137 | Pathogenic, Charcot-Marie-Tooth disease 1D (CMT1D) [MIM:607678] | 62,813,496(-) | CAGCC(A/G)CAGTG | reference, missense |
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
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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neuropathy, congenital hypomyelinating |
|
|
| charcot-marie-tooth disease, type 1d |
|
|
| dejerine-sottas disease |
|
|
| tooth disease |
|
|
| charcot-marie-tooth neuropathy type 1 |
|
|
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}.
Relevant External Links for EGR2
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. (Hum. Mutat. 1999) 3 4 22 46 64
- 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. (Genet. Med. 2006) 3 22 46 64
- Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. (PMID: 16198564) MikesovA! E. … Seeman P. (Neuromuscul. Disord. 2005) 3 22 46 64
- Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot- Marie-Tooth disease family. (PMID: 15947997) Chung K.W. … Choi B.O. (Neurogenetics 2005) 3 4 22 64
- Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. (PMID: 15241803) Choi B.-O. … Chung K.W. (Hum. Mutat. 2004) 3 4 22 64
Products for EGR2 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for EGR2
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for EGR2
- Search Origene for MassSpec and Protein Over-expression Lysates for EGR2
- Origene Custom Protein Services for EGR2
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for EGR2
- Browse OriGene Inhibitory RNA Products For EGR2
- OriGene qPCR primer pairs and template standards for EGR2
- OriGene qPCR primer pairs for EGR2
- OriGene CRISPR knockouts for EGR2
- OriGene ORF clones in human for EGR2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For EGR2
- GenScript: Next-day shipping cDNA ORF clone for EGR2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for EGR2
- GenScript Custom Assay Services for EGR2
- GenScript Custom overexpressing Cell Line Services for EGR2
- GenScript: Design CRISPR guide RNA sequences for EGR2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for EGR2
- Sino Biological Human cDNA Clone for EGR2
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for EGR2
- Novus Biologicals proteins and lysates for EGR2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Cloud-Clone Corp. Antibodies for EGR2
- Cloud-Clone Corp. Proteins for EGR2
- Browse Assay Kits at Cloud-Clone Corp.
- Invitrogen Antibodies for EGR2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- antibodies-online Antibodies for EGR2: See all 108
- antibodies-online Kits for EGR2: See all 28
- antibodies-online Proteins for EGR2: See all 12
- Search antibodies-online for peptides
- GeneTex EGR2 antibody for EGR2
- Search GeneTex for Proteins 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
- Search ViGene Biosciences for EGR2
- Santa Cruz Biotechnology (SCBT) Antibodies for EGR2
- Search Santa Cruz Biotechnology (SCBT) for EGR2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for EGR2
- Horizon Cell Lines for EGR2
- Cyagen custom Knockout/knockin (KOKI) mouse models for EGR2
- 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
Sources for EGR2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer