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The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]
ELF4 (E74 Like ETS Transcription Factor 4) is a Protein Coding gene. Diseases associated with ELF4 include Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia and Myeloid Leukemia. Among its related pathways are AMP-activated Protein Kinase (AMPK) Signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ELF1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 14625302 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 14625302 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0016604 | nuclear body | IDA | -- |
GO:0016605 | PML body | IEA,IDA | 14970218 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | AMP-activated Protein Kinase (AMPK) Signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001787 | natural killer cell proliferation | IEA,ISS | -- |
GO:0001866 | NK T cell proliferation | IEA,ISS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0030154 | cell differentiation | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
ISIS 183750 | Pharma | inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | ELF4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ELF4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Elf4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Elf4 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ELF4 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | ef1 31 |
|
OneToOne | |
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Eip74EF 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | C24A1.2 32 |
|
|
|
ets-8 31 |
|
ManyToMany | |||
elf-1 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
736824 | Benign: not provided | 130,072,318(-) | G/A | MISSENSE_VARIANT | |
756677 | Likely Benign: not provided | 130,069,575(-) | A/G | SYNONYMOUS_VARIANT | |
784732 | Benign: not provided | 130,066,903(-) | G/A | MISSENSE_VARIANT | |
788344 | Benign: not provided | 130,069,380(-) | C/T | SYNONYMOUS_VARIANT | |
rs2181440 | Benign: not specified | 130,067,204(-) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1493190 | CNV | deletion | 17803354 |
esv25673 | CNV | loss | 19812545 |
nsv1076274 | CNV | deletion | 25765185 |
nsv1110098 | CNV | deletion | 24896259 |
nsv1144322 | CNV | deletion | 24896259 |
nsv528290 | CNV | gain | 19592680 |
nsv7090 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
isolated growth hormone deficiency, type iii, with agammaglobulinemia |
|
|
myeloid leukemia |
|
|