EGR4

early growth response 4, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 2:73290929-73293701

Links

ENSG00000135625NCBI:1961OMIM:128992HGNC:3241Uniprot:Q05215AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EGR4 gene.

  • not_specified (80 variants)
  • not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EGR4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001965.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
3
clinvar
5
missense
77
clinvar
4
clinvar
81
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 77 6 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EGR4protein_codingprotein_codingENST00000545030 22776
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.006350.918124753031247560.0000120
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1362912851.020.00001313638
Missense in Polyphen111125.740.882761591
Synonymous-3.901811251.440.000006121298
Loss of Function1.53510.30.4864.45e-7148

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002900.0000290
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00005470.0000486
European (Non-Finnish)0.000009890.00000885
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Transcriptional regulator. Recognizes and binds to the DNA sequence 5'-GCGGGGGCG-3' (GSG). Activates the transcription of target genes whose products are required for mitogenesis and differentiation (By similarity). {ECO:0000250}.;
Pathway
Downstream signaling in naïve CD8+ T cells;Calcineurin-regulated NFAT-dependent transcription in lymphocytes (Consensus)

Recessive Scores

pRec
0.151

Haploinsufficiency Scores

pHI
0.498
hipred
N
hipred_score
0.275
ghis
0.568

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.484

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Egr4
Phenotype
cellular phenotype; endocrine/exocrine gland phenotype; reproductive system phenotype;

Gene ontology

Biological process
regulation of transcription by RNA polymerase II;positive regulation of cell population proliferation;positive regulation of transcription by RNA polymerase II;cellular response to growth factor stimulus
Cellular component
nucleus
Molecular function
RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA-binding transcription factor activity;sequence-specific DNA binding;metal ion binding