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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
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, 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.
Additional gene information for EGR2 Gene
- HGNC(3239)
- Entrez Gene(1959)
- Ensembl(ENSG00000122877)
- OMIM(129010)
- UniProtKB(P11161)
- Open Targets Platform(ENSG00000122877)
- Monarch Initiative
- Search for EGR2 at DataMed
- Search for EGR2 at HumanCyc
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
- 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:
-
- 10q21.3 by HGNC
- 10q21.3 by Entrez Gene
- 10q21.3 by Ensembl
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 (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};
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
Other Protein References for EGR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ EGR2 Antibody
- GeneTex Anti-EGR2 antibody and Anti-EGR2 antibody, Internal
-
Custom Antibody ServicesOriGene Antibodies for EGR2
- Novus Biologicals Antibodies for EGR2
-
Abcam antibodies for EGR2
- Invitrogen Antibodies for EGR2 (AFLGC-Egr2)
-
Boster Bio Antibodies for EGR2
-
Santa Cruz Biotechnology (SCBT) Antibodies for EGR2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for EGR2
- Origene Custom Protein Services 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:
-
- 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- Family:
-
- Belongs to the EGR C2H2-type zinc-finger protein family.
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
| 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 |
Phenotypes for EGR2 Gene
- MGI mutant phenotypes for EGR2:
-
inferred from 10 alleles
- nervous system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- reproductive system phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for EGR2:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Increased shRNA abundance (Z-score > 2)
- Increased gamma-H2AX phosphorylation
- Strongly decreased CFP-tsO45G cell surface transport
- Increased transferrin (TF) endocytosis
- Inconclusive
- Decreased IL-8 secretion
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased replication of vaccinia virus (VACV)
- Synthetic lethal with cisplatin
Animal Models for EGR2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EGR2 - Select products 50% OFF >
- * EGR2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EGR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EGR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for EGR2
miRNA for EGR2 Gene
- miRTarBase miRNAs that target EGR2
-
- hsa-miR-150-5p (MIRT003222)
- hsa-miR-100-5p (MIRT003417)
- hsa-miR-130b-3p (MIRT020183)
- hsa-miR-124-3p (MIRT022653)
- hsa-miR-93-5p (MIRT028079)
- mmu-miR-224-5p (MIRT053158)
- hsa-miR-142-3p (MIRT053247)
- mmu-miR-150-5p (MIRT053317)
- hsa-miR-20a-5p (MIRT053563)
- mmu-miR-138-5p (MIRT054466)
- mmu-miR-709 (MIRT054467)
- mmu-miR-3971 (MIRT604067)
- mmu-miR-125b-2-3p (MIRT604068)
- mmu-miR-344f-5p (MIRT604069)
- mmu-miR-455-3p (MIRT604070)
- mmu-miR-106b-5p (MIRT732134)
- mmu-miR-504-5p (MIRT732978)
- hsa-miR-20a-3p (MIRT733459)
- hsa-miR-17-5p (MIRT733546)
- hsa-miR-330-3p (MIRT735288)
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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EGR2
- Browse OriGene Inhibitory RNA Products For EGR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EGR2
Clone Products
- Applied Biological Materials (abm): Clones for EGR2 - Select products 50% OFF >
- * EGR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG227610
- MR227610
- MR227610L1
- MR227610L2
- MR227610L3
- MR227610L4
- RC212183
- RC212183L1
- RC212183L2
- RC212183L3
- RC212183L4
- RC227273
- RC227273L3
- RC227273L4
- RC227351
- RC227351L3
- RC227351L4
- RC227414
- RC227414L3
- RC227414L4
- RG212183
- RG227273
- RG227351
- RG227414
- RR206025
- RR206025L3
- RR206025L4
- MR227610L1V
- MR227610L2V
- MR227610L3V
- MR227610L4V
- RC212183L1V
- RC212183L2V
- RC212183L3V
- RC212183L4V
- RC227273L3V
- RC227273L4V
- RC227351L3V
- RC227351L4V
- RC227414L3V
- RC227414L4V
- RR206025L3V
- RR206025L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for EGR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EGR2
Cell Line Products
-
Horizon Cell Lines for EGR2
Localization for EGR2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EGR2 Gene
- Nucleus.
| 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 |
- Nucleoplasm (3)
| 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 | -- |
Pathways & Interactions for EGR2 Gene
Pathways by source for EGR2 Gene
4 BioSystems pathways for EGR2 Gene
4 KEGG pathways for EGR2 Gene
UniProtKB/Swiss-Prot P11161-EGR2_HUMAN
- Pathway: Protein modification; protein sumoylation.
Interacting Proteins for EGR2 Gene
GPS-Prot Interaction Network for EGR2
SIGNOR curated interactions 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 |
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 :
-
- ENST00000639815 1075 nts (view in UCSC)
- ENST00000242480 2979 nts (view in UCSC)
- ENST00000411732 2824 nts (view in UCSC)
- ENST00000637191 572 nts (view in UCSC)
- ENST00000493899 686 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EGR2 - Select products 50% OFF >
- * EGR2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EGR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EGR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for EGR2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EGR2
- Browse OriGene Inhibitory RNA Products For EGR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EGR2
Clone Products
- Applied Biological Materials (abm): Clones for EGR2 - Select products 50% OFF >
- * EGR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG227610
- MR227610
- MR227610L1
- MR227610L2
- MR227610L3
- MR227610L4
- RC212183
- RC212183L1
- RC212183L2
- RC212183L3
- RC212183L4
- RC227273
- RC227273L3
- RC227273L4
- RC227351
- RC227351L3
- RC227351L4
- RC227414
- RC227414L3
- RC227414L4
- RG212183
- RG227273
- RG227351
- RG227414
- RR206025
- RR206025L3
- RR206025L4
- MR227610L1V
- MR227610L2V
- MR227610L3V
- MR227610L4V
- RC212183L1V
- RC212183L2V
- RC212183L3V
- RC212183L4V
- RC227273L3V
- RC227273L4V
- RC227351L3V
- RC227351L4V
- RC227414L3V
- RC227414L4V
- RR206025L3V
- RR206025L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for EGR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EGR2
| 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 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).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EGR2
SOURCE GeneReport for Unigene cluster for EGR2 Gene:
Hs.1395Evidence 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
Primer Products
-
OriGene qPCR primer pairs for EGR2
-
OriGene qPCR primer pairs and template standards for EGR2
Gene Expression Assay Products
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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EGR2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | EGR2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Egr2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Egr2 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | EGR2 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | EGR2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | egr2 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | egr2-A 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | egr2b 30 31 |
|
OneToMany | |
| egr2a 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | sr 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | C27C12.2 32 |
|
|
|
| Y55F3AM.7 32 |
|
|
|||
| ZK337.2 31 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MIG2 31 |
|
ManyToMany | |
| MIG3 31 |
|
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
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 |
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
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
(33) MalaCards diseases for EGR2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neuropathy, congenital hypomyelinating, 1, autosomal recessive |
|
|
| charcot-marie-tooth disease, demyelinating, type 1d |
|
|
| hypertrophic neuropathy of dejerine-sottas |
|
|
| charcot-marie-tooth disease and deafness |
|
|
| charcot-marie-tooth disease |
|
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
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 23 41
- Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. (PMID: 17717711) Szigeti K … Lupski JR (Neurogenetics 2007) 3 4 23
- 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
- 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
- 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
ExternalLinks
Products for EGR2 Gene
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Sources for EGR2 Gene
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