Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
2000
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
E74 like ETS transcription factor 4 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
ELF4 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
AIFBL2, ELFR, MEF |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
AIFBL2 |
Chromosome
Chromosome number
|
X |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
Xq26.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 o |
UniProt ID |
Q99607
|
Protein name |
ETS-related transcription factor Elf-4 (E74-like factor 4) (Myeloid Elf-1-like factor) |
Protein function |
Transcriptional activator that binds to DNA sequences containing the consensus 5'-WGGA-3'. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to tran |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF12310
|
Elf-1_N |
2 → 104 |
Transcription factor protein N terminal |
Family |
PF00178
|
Ets |
210 → 291 |
Ets-domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Abundantly expressed in the placenta and in a variety of myeloid leukemia cell lines. Moderate levels of expression in heart, lung, spleen, thymus, peripheral blood lymphocytes, ovary and colon. Lower levels of expression in Jurkat T-c |
Sequence |
|
Sequence length |
663 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Agammaglobulinemia with growth hormone deficiency, x-linked |
X-linked agammaglobulinemia with growth hormone deficiency |
rs128620183, rs128620187, rs128620188, rs864321659, rs128620185, rs128620186, rs864321660, rs864321662, rs864321664, rs864321665, rs128621192, rs128621193, rs128621194, rs128621197, rs128621201, rs128621202, rs128621204, rs128621207, rs104894770, rs193922128, rs193922129, rs193922131, rs193922132, rs886039555, rs886041149, rs886041148, rs1064793859, rs1555977339, rs1555980875, rs1555977592, rs1555978277, rs1555980049, rs1569295678, rs1555977474, rs1569291644, rs1569292021, rs1569292810, rs1569296295, rs1603019594, rs1569293252, rs1603001805, rs1603002367, rs1057521814, rs1603002421, rs1603004481, rs1603004514, rs1603005073, rs1603005139, rs1603008349, rs1603008449, rs1603009890, rs1603017538, rs1603019535, rs1603020228, rs1603001846, rs1603007942, rs1603008381, rs1603005659, rs1926352588, rs1926378381, rs1926503277, rs1926711302, rs1926977049, rs1927172387, rs1926404279, rs1926404536 View all (51 more) |
18180883 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Hypogammaglobulinemia |
short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia |
|
|
GenCC |
Dental caries |
Dental caries |
|
|
GWAS |
|
|