ELF4 - E74 like ETS transcription factor 4 Gene

Also Known as MEF; ELFR; AIFBL2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2000

About ELF4

Cytogenetic location: Xq26.1 Genomic coordinates (GRCh38): X:130,063,955-130,111,927 (from NCBI)

This gene has 3 transcripts (splice variants), 94 orthologues, 28 paralogues and is associated with 63 phenotypes. Broad expression in bone marrow (RPKM 18.8), placenta (RPKM 12.9) and 21 other tissues.

Summary

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 Products (2)

mRNA	Protein	Name
NM_001127197.2	NP_001120669.1	ETS-related transcription factor Elf-4
NM_001421.4	NP_001412.1	ETS-related transcription factor Elf-4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	14625302	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	14625302	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10207087	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of inflammatory response	IMP IMP: Inferred from mutant phenotype	34326534	GOA
involved in negative regulation of interleukin-1 beta production	IMP IMP: Inferred from mutant phenotype	34326534	GOA
involved in negative regulation of interleukin-6 production	IMP IMP: Inferred from mutant phenotype	34326534	GOA
involved in negative regulation of tumor necrosis factor production	IMP IMP: Inferred from mutant phenotype	35266071	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	8895518	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	8895518	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in PML body	IDA IDA: Inferred from direct assay	14970218	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ELF4 Protein Structure

Elf-1_N

Ets

0
200
400
600
663 a.a.

Protein Preferred Names	Protein Names
ETS-related transcription factor Elf-4	E74-like factor 4 (ets domain transcription factor)

Related Diseases

Diseases	Alias
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Dex AIFBL2 Deficiency In Elf4, X-Linked
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	IGHD3 Ighd Iii Fleisher Syndrome Growth Hormone Deficiency With Hypogammaglobulinemia, X-Linked Hypogammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked Agammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked Short Stature Due To Isolated Growth Hormone Deficiency With X-Linked Hypogammaglobulinemia Growth Hormone Deficiency, Isolated, 3, With Agammaglobulinemia Agammaglobulinemia And Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 3 X-Linked Hypogammaglobulinemia And Isolated Growth Hormone Deficiency
Myeloid Leukemia	Myeloid Leukaemia Leukaemia Myelogenous Leukemia Myelogenous Myeloid Granulocytic Leukaemia Myeloid Granulocytic Leukemia Non-Lymphocytic Leukemia Leukemia, Myeloid Granulocytic Leukaemia Myelogenous Leukaemia Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-150612	(R)-STU104	Inhibitor	99.91%	Unkown
HY-150612S	(R)-STU104-d6		99.90%	Unkown
HY-RS04301	ELF4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21334	Elf4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27853	Elf4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ELF4	VGNC	VGNC:61808
Mus musculus	ELF4	MGD	MGI:1928377
Rattus norvegicus	ELF4	RGD	RGD:1560743
Canis familiaris	ELF4	VGNC	VGNC:40301
Bos taurus	ELF4	VGNC	VGNC:28429
Macaca mulatta	ELF4	VGNC	VGNC:72208
Others	ELF4	NCBI