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This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010]
EGR3 (Early Growth Response 3) is a Protein Coding gene. Diseases associated with EGR3 include Schizophrenia 19 and Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive. Among its related pathways are C-type lectin receptor signaling pathway and Viral carcinogenesis. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is EGR2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | TAS | 1906159 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0045202 | synapse | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Neuroscience | ||
2 | C-type lectin receptor signaling pathway | ||
3 | Toll-like Receptor Signaling Pathway |
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4 | Viral carcinogenesis | ||
5 | Calcineurin-regulated NFAT-dependent transcription in lymphocytes |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001938 | positive regulation of endothelial cell proliferation | IMP | 18059339 |
GO:0002042 | cell migration involved in sprouting angiogenesis | IDA | 18059339 |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0007274 | neuromuscular synaptic transmission | IEA | -- |
GO:0007422 | peripheral nervous system development | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EGR3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EGR3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EGR3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Egr3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Egr3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | EGR3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EGR3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | egr3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | egr3 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | sr 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | C27C12.2 32 |
|
|
|
Y55F3AM.7 32 |
|
|
|||
ZC328.2 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MIG2 31 |
|
ManyToMany | |
MIG3 31 |
|
ManyToMany | |||
RIM101 33 |
|
|
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
976207 | Uncertain Significance: Neurodevelopmental delay | 22,691,046(-) |
G/T NM_004430.3(EGR3):c.591C>A (p.Tyr197Ter) |
NONSENSE | |
rs1085307474 | Uncertain Significance: not provided | 22,691,435(-) |
G/C NM_004430.3(EGR3):c.202C>G (p.Leu68Val) |
MISSENSE | |
rs138509871 | Likely Benign: not provided | 22,690,509(-) |
G/A NM_004430.3(EGR3):c.1128C>T (p.Pro376=) |
SYNONYMOUS | |
rs142198577 | Benign: not provided | 22,690,557(-) |
C/T NM_004430.3(EGR3):c.1080G>A (p.Glu360=) |
SYNONYMOUS | |
rs34545192 | Benign: not provided | 22,690,623(-) |
G/A NM_004430.3(EGR3):c.1014C>T (p.Cys338=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759604 | CNV | loss | 17122850 |
nsv1112959 | CNV | deletion | 24896259 |
nsv6117 | CNV | insertion | 18451855 |
nsv8322 | CNV | gain | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
schizophrenia 19 |
|
|
neuropathy, congenital hypomyelinating, 1, autosomal recessive |
|
|
schizophrenia |
|
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disease of mental health |
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