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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 RefSeq, Oct 2008]
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.
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 |
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 | -- |
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 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | · | 4c | · | 4d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||
SP2: | - | ||||||||||||||||||
SP3: | - | ||||||||||||||||||
SP4: |
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 |
|
|
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 |
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 |
|