EGR4 early growth response 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EGR4provided by HGNC
Official Full Name: early growth response 4provided by HGNC
Primary source: HGNC:HGNC:3241
See related: Ensembl:ENSG00000135625 MIM:128992; AllianceGenome:HGNC:3241
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AT133; NGFIC; NGFI-C; PAT133
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in brain (RPKM 3.5) and testis (RPKM 1.6) See more
Orthologs: mouse all
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Genomic context

Location:: 2p13.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (73290929..73293548, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (73300923..73306546, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (73518057..73520676, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

our study demonstrated that the positive feedback loop between ZNF205-AS1 and EGR4 promotes non-small cell lung cancer (NSCLC) growth, and implied that targeting this feedback loop may be promising therapeutic strategy for NSCLC
Title: A positive feedback loop between ZNF205-AS1 and EGR4 promotes non-small cell lung cancer growth.
this study is the first to screen the EGR4 gene in relation to male infertility. However, our findings did not clearly explain how nonsynonymous EGR4 variations affect spermatogenesis
Title: Sequence variations of the EGR4 gene in Korean men with spermatogenesis impairment.
EGR4 directly transactivates specific variants (V3 and V4) of the PTHrP gene resulting in subsequent transactivation of the RANKL, IL-6 and IL-8 genes via paracrine action of the PTHrP protein.
Title: Early growth response 4 is involved in cell proliferation of small cell lung cancer through transcriptional activation of its downstream genes.
data suggest a tendency of gender-specific association of EGR2 and EGR4 in schizophrenia.
Title: Genetic and functional analyses of early growth response (EGR) family genes in schizophrenia.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: No association between EGR gene family polymorphisms and schizophrenia in the Chinese population.
Data found multiple differences in gene expression between the high and low infertility risk groups, confirming the importance of an intact hypothalamo-pituitary testicular axis and EGR4 in fertility development
Title: EGR4 is a master gene responsible for fertility in cryptorchidism.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The gene expression of early growth response 4 is significantly upregulated in both clade B and clade C Tat treated SK-N-MC neuroblastoma cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70849 (e-PCR)
- UniSTS:69729

NoName (e-PCR)
- UniSTS:484329

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: early growth response protein 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001965.4 → NP_001956.4 early growth response protein 4

Status: VALIDATED

Source sequence(s)

AC010913

Consensus CDS

CCDS1925.3

UniProtKB/Swiss-Prot

B2RAE3, G3V1T5, Q05215, Q2Z1P5

UniProtKB/TrEMBL

A0A0C4DG96

Related

ENSP00000419687.1, ENST00000436467.4

Conserved Domains (3) summary

COG5048
Location:408 → 466

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:382 → 404

ZF_C2H2; C2H2 Zn finger [structural motif]

cl26464
Location:74 → 339

Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

73290929..73293548 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047443603.1 → XP_047299559.1 early growth response protein 4 isoform X1

UniProtKB/Swiss-Prot

B2RAE3, G3V1T5, Q05215, Q2Z1P5

UniProtKB/TrEMBL

B7ZKU3

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

73300923..73306546 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054340923.1 → XP_054196898.1 early growth response protein 4 isoform X1

UniProtKB/Swiss-Prot

B2RAE3, G3V1T5, Q05215, Q2Z1P5

UniProtKB/TrEMBL

B7ZKU3